Вы находитесь на странице: 1из 64


What is a gene mutation and how do

mutations occur?
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene,
such that the sequence differs from what is found in most people. Mutations range in
size; they can affect anywhere from a single DNA building block (base pair) to a large
segment of a chromosome that includes multiple genes.

Gene mutations can be classified in two major ways:

Hereditary mutations are inherited from a parent and are present throughout a
persons life in virtually every cell in the body. These mutations are also called
germline mutations because they are present in the parents egg or sperm cells,
which are also called germ cells. When an egg and a sperm cell unite, the resulting
fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the
child that grows from the fertilized egg will have the mutation in each of his or her

Acquired (or somatic) mutations occur at some time during a persons life and are
present only in certain cells, not in every cell in the body. These changes can be
caused by environmental factors such as ultraviolet radiation from the sun, or can
occur if a mistake is made as DNA copies itself during cell division. Acquired
mutations in somatic cells (cells other than sperm and egg cells) cannot be passed
on to the next generation.

Genetic changes that are described as de novo (new) mutations can be either
hereditary or somatic. In some cases, the mutation occurs in a persons egg or sperm
cell but is not present in any of the persons other cells. In other cases, the mutation
occurs in the fertilized egg shortly after the egg and sperm cells unite. (It is often
impossible to tell exactly when a de novo mutation happened.) As the fertilized egg
divides, each resulting cell in the growing embryo will have the mutation. De novo
mutations may explain genetic disorders in which an affected child has a mutation in
every cell in the body but the parents do not, and there is no family history of the
Somatic mutations that happen in a single cell early in embryonic development can lead
to a situation called mosaicism. These genetic changes are not present in a parents
egg or sperm cells, or in the fertilized egg, but happen a bit later when the embryo
includes several cells. As all the cells divide during growth and development, cells that
arise from the cell with the altered gene will have the mutation, while other cells will not.
Depending on the mutation and how many cells are affected, mosaicism may or may not
cause health problems.

Most disease-causing gene mutations are uncommon in the general population.

However, other genetic changes occur more frequently. Genetic alterations that occur in
more than 1 percent of the population are called polymorphisms. They are common
enough to be considered a normal variation in the DNA. Polymorphisms are responsible
for many of the normal differences between people such as eye color, hair color, and
blood type. Although many polymorphisms have no negative effects on a persons
health, some of these variations may influence the risk of developing certain disorders.

Mutation Generates New Alleles

The whole human family is one species with the same genes. Mutation creates slightly
different versions of the same genes, called alleles. These small differences in DNA
sequence make every individual unique. They account for the variation we see in
human hair color, skin color, height, shape, behavior, and susceptibility to disease.
Individuals in other species vary too, in both physical appearance and behavior.

Genetic variation is useful because it helps populations change over time. Variations
that help an organism survive and reproduce are passed on to the next generation.
Variations that hinder survival and reproduction are eliminated from the population. This
process of natural selection can lead to significant changes in the appearance,
behavior, or physiology of individuals in a population, in just a few generations.

Once new alleles arise, meiosis and sexual reproduction combine different alleles in
new ways to increase genetic variation.

Mutation vs. variation

It's useful to think of mutation as a process that creates genetic variation. We often refer
to a mutation as a thingthe genetic variation itself. This approach can be useful when
it comes to a gene associated with a disease: the disease allele carries a mutation, a
DNA change that compromises the protein's function. However, this approach gives
mutation a bad name.

Its important to remember that losing the function of a gene doesnt always affect
health. For example, most mammals have hundreds of genes that code for olfactory
receptors, proteins that help us smell. Losing one of these genes probably doesnt make
all that much difference.

In contrast to variations that cause disease, there are many more examples of
variations that are neither good nor bad, but just differentlike blood types and eye
color. Just like with disease alleles, the process of mutation creates these more neutral
variations. But with neutral variations, it can be impossible to tell which allele is the
"normal" one that existed first and which is the "mutant"and the distinction is often

Proteins and switches

Mutation creates variations in protein-coding portions of genes that can affect the
protein itself. But even more often, it creates variations in the "switches" that control
when and where a protein is active and how much protein is made.

Lactase is an enzyme that helps infants break down lactose, a sugar in milk. Normally
the gene that codes for lactase is active in babies and then turned off at about age four.
When people who don't make lactase consume milk, they experience gas, nausea, and
discomfort. But some people have a variation in a genetic switch that keeps the lactase
gene active. This variation is called "lactase persistence," and people who have it can
keep milk in their diets even as adults.

Other drivers of mutation: Environmental

Radiation, chemicals, byproducts of cellular metabolism, free radicals, ultraviolet rays
from the sunthese agents damage thousands of nucleotides in each of our cells every
day. They affect the nucleotides themselves: converting one base to another, knocking a
base off its backbone, or even causing a break in the DNA strand.

DNA Repair
Most of the time, mutation is reversed. DNA repair machines are constantly at work in
our cells, fixing mismatched nucleotides and splicing broken DNA strands back together.
Yet some DNA changes remain. If a cell accumulates too many changesif its DNA is
so damaged that repair machinery cannot fix itit either stops dividing or it self-
destructs. If any of these processes go wrong, the cell could become cancerous.

When we put on sun screen, we are protecting ourselves against mutation in somatic
cellsthe cells that make up the body and are not involved in reproduction. Only when
DNA changes are carried in egg and sperm cells are they passed to the next
generation. Believe it or not, a certain amount of sloppiness is built into the system.
Without mutation there would be no variation, and without variation there would be no

n biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of
an organism, virus, orextrachromosomal DNA or other genetic elements. Mutations result from
errors during DNA replication or other types of damage to DNA, which then may undergo error-prone
repair (especially microhomology-mediated end joining[1]), or cause an error during other forms of
repair,[2][3] or else may cause an error during replication (translesion synthesis). Mutations may also
result from insertion or deletion of segments of DNA due to mobile genetic elements.[4][5][6] Mutations
may or may not produce discernible changes in the observable characteristics (phenotype) of an
organism. Mutations play a part in both normal and abnormal biological processes
including: evolution, cancer, and the development of theimmune system, including junctional

The genomes of RNA viruses are based on RNA rather than DNA. The RNA viral genome can be
double stranded (as in DNA) or single stranded. In some of these viruses (such as the single
stranded human immunodeficiency virus) replication occurs quickly and there are no mechanisms to
check the genome for accuracy. This error-prone process often results in mutations.

Mutation can result in many different types of change in sequences. Mutations in genes can either
have no effect, alter the product of a gene, or prevent the gene from functioning properly or
completely. Mutations can also occur innongenic regions. One study on genetic variations between
different species of Drosophila suggests that, if a mutation changes a protein produced by a gene,
the result is likely to be harmful, with an estimated 70 percent of amino acidpolymorphisms that have
damaging effects, and the remainder being either neutral or marginally beneficial. [7] Due to the
damaging effects that mutations can have on genes, organisms have mechanisms such as DNA
repair to prevent or correct mutations by reverting the mutated sequence back to its original state. [4]

Mutations can involve the duplication of large sections of DNA, usually through genetic
recombination.[8] These duplications are a major source of raw material for evolving new genes, with
tens to hundreds of genes duplicated in animal genomes every million years. [9] Most genes belong to
larger gene families of shared ancestry, known as homology.[10] Novel genes are produced by several
methods, commonly through the duplication and mutation of an ancestral gene, or by recombining
parts of different genes to form new combinations with new functions.[11][12]

Here, protein domains act as modules, each with a particular and independent function, that can be
mixed together to produce genes encoding new proteins with novel properties. [13] For example,
the human eye uses four genes to make structures that sense light: three for cone cell or color
vision and one for rod cell or night vision; all four arose from a single ancestral gene.[14] Another
advantage of duplicating a gene (or even an entire genome) is that this increases engineering
redundancy; this allows one gene in the pair to acquire a new function while the other copy performs
the original function.[15][16] Other types of mutation occasionally create new genes from
previously noncoding DNA.[17][18]

Changes in chromosome number may involve even larger mutations, where segments of the DNA
within chromosomes break and then rearrange. For example, in theHomininae, two chromosomes
fused to produce human chromosome 2; this fusion did not occur in the lineage of the other apes,
and they retain these separate chromosomes.[19] In evolution, the most important role of such
chromosomal rearrangements may be to accelerate the divergence of a population into new
speciesby making populations less likely to interbreed, thereby preserving genetic differences
between these populations.[20]

Sequences of DNA that can move about the genome, such as transposons, make up a major
fraction of the genetic material of plants and animals, and may have been important in the evolution
of genomes.[21] For example, more than a million copies of the Alu sequence are present in
the human genome, and these sequences have now been recruited to perform functions such as
regulating gene expression.[22] Another effect of these mobile DNA sequences is that when they move
within a genome, they can mutate or delete existing genes and thereby produce genetic diversity.[5]

Nonlethal mutations accumulate within the gene pool and increase the amount of genetic variation.
The abundance of some genetic changes within the gene pool can be reduced by natural
selection, while other "more favorable" mutations may accumulate and result in adaptive changes.
Prodryas persephone, a LateEocene butterfly

For example, a butterfly may produce offspring with new mutations. The majority of these mutations
will have no effect; but one might change the color of one of the butterfly's offspring, making it harder
(or easier) for predators to see. If this color change is advantageous, the chance of this butterfly's
surviving and producing its own offspring are a little better, and over time the number of butterflies
with this mutation may form a larger percentage of the population.

Neutral mutations are defined as mutations whose effects do not influence the fitness of an
individual. These can accumulate over time due to genetic drift. It is believed that the overwhelming
majority of mutations have no significant effect on an organism's fitness. [24][better source needed] Also, DNA
repair mechanisms are able to mend most changes before they become permanent mutations, and
many organisms have mechanisms for eliminating otherwise-permanently mutated somatic cells.

Beneficial mutations can improve reproductive success.

Classification of types
By effect on structure

The sequence of a gene can be altered in a number of ways. Gene mutations have varying effects
on health depending on where they occur and whether they alter the function of essential proteins.
Mutations in the structure of genes can be classified as:

Small-scale mutations, such as those affecting a small gene in one or a few nucleotides,

Substitution mutations, often caused by chemicals or malfunction of DNA

replication, exchange a single nucleotide for another.[34] These changes are classified as
transitions or transversions.[35] Most common is the transition that exchanges a purine for a
purine (A G) or a pyrimidine for a pyrimidine, (C T). A transition can be caused by
nitrous acid, base mis-pairing, or mutagenic base analogs such as BrdU. Less common is a
transversion, which exchanges a purine for a pyrimidine or a pyrimidine for a purine (C/T
A/G). An example of a transversion is the conversion of adenine (A) into a cytosine (C). A
point mutation can be reversed by another point mutation, in which the nucleotide is
changed back to its original state (true reversion) or by second-site reversion (a
complementary mutation elsewhere that results in regained gene functionality). Point
mutations that occur within the protein coding region of a gene may be classified into three
kinds, depending upon what the erroneous codon codes for:

Silent mutations, which code for the same (or a sufficiently similar) amino

Missense mutations, which code for a different amino acid.

Nonsense mutations, which code for a stop codon and can truncate the

Insertions add one or more extra nucleotides into the DNA. They are usually caused
by transposable elements, or errors during replication of repeating elements. Insertions in
the coding region of a gene may alter splicing of the mRNA (splice site mutation), or cause a
shift in the reading frame (frameshift), both of which can significantly alter the gene product.
Insertions can be reversed by excision of the transposable element.

Deletions remove one or more nucleotides from the DNA. Like insertions, these
mutations can alter the reading frame of the gene. In general, they are irreversible: Though
exactly the same sequence might in theory be restored by an insertion, transposable
elements able to revert a very short deletion (say 12 bases) in any location either are
highly unlikely to exist or do not exist at all.

Large-scale mutations in chromosomal structure, including:

Amplifications (or gene duplications) leading to multiple copies of all chromosomal

regions, increasing the dosage of the genes located within them.

Deletions of large chromosomal regions, leading to loss of the genes within those

Mutations whose effect is to juxtapose previously separate pieces of DNA, potentially

bringing together separate genes to form functionally distinct fusion genes (e.g., bcr-abl).
These include:
Chromosomal translocations: interchange of genetic parts from
nonhomologous chromosomes.

Interstitial deletions: an intra-chromosomal deletion that removes a

segment of DNA from a single chromosome, thereby apposing previously distant genes.
For example, cells isolated from a humanastrocytoma, a type of brain tumor, were found
to have a chromosomal deletion removing sequences between the Fused in
Glioblastoma (FIG) gene and the receptor tyrosine kinase (ROS), producing a fusion
protein (FIG-ROS). The abnormal FIG-ROS fusion protein has constitutively active
kinase activity that causes oncogenic transformation (a transformation from normal cells
to cancer cells).

Chromosomal inversions: reversing the orientation of a chromosomal


Loss of heterozygosity: loss of one allele, either by a deletion or a genetic

recombination event, in an organism that previously had two different alleles.
By effect on function[edit]
See also: Behavior mutation

Loss-of-function mutations, also called inactivating mutations, amorph result in the gene
product having less or no function (being partially or wholly inactivated). When the allele has a
complete loss of function (null allele), it is often called an amorphic mutation in the Muller's
morphs schema. Phenotypes associated with such mutations are most often recessive.
Exceptions are when the organism is haploid, or when the reduced dosage of a normal gene
product is not enough for a normal phenotype (this is called haploinsufficiency).

Gain-of-function mutations, also called activating mutations, or hypermorph change the

gene product such that its effect gets stronger (enhanced activation) or even is superseded by a
different and abnormal function. When the new allele is created, a heterozygote containing the
newly created allele as well as the original will express the new allele; genetically this defines
the mutations as dominant phenotypes. Often called a neomorphic mutation.[36]

Dominant negative mutations (also called antimorphic mutations) have an altered gene
product that acts antagonistically to the wild-type allele. These mutations usually result in an
altered molecular function (often inactive) and are characterized by a dominant or semi-
dominant phenotype. In humans, dominant negative mutations have been implicated in cancer
(e.g., mutations in genes p53,[37] ATM,[38] CEBPA[39] and PPARgamma[40]). Marfan syndrome is
caused by mutations in the FBN1 gene, located on chromosome 15, which encodes fibrillin-1,
a glycoprotein component of the extracellular matrix.[41] Marfan syndrome is also an example of
dominant negative mutation and haploinsufficiency.[42][43]

Hypomorph, after Mullarian classification is altered gene product that acts with
decreased gene expression compared to wild type allele.

Neomorph is characterized by the control of new protein product synthesis.

Lethal mutations are mutations that lead to the death of the organisms that carry the

A back mutation or reversion is a point mutation that restores the original sequence and
hence the original phenotype.[44]
By effect on fitness[edit]
See also: Fitness (biology)

In applied genetics, it is usual to speak of mutations as either harmful or beneficial.

A harmful, or deleterious, mutation decreases the fitness of the organism.

A beneficial, or advantageous mutation increases the fitness of the organism. Mutations

that promotes traits that are desirable, are also called beneficial. In theoretical population
genetics, it is more usual to speak of mutations as deleterious or advantageous than harmful or

A neutral mutation has no harmful or beneficial effect on the organism. Such mutations
occur at a steady rate, forming the basis for the molecular clock. In theneutral theory of
molecular evolution, neutral mutations provide genetic drift as the basis for most variation at the
molecular level.

A nearly neutral mutation is a mutation that may be slightly deleterious or advantageous,

although most nearly neutral mutations are slightly deleterious.

What is a mutation?
A mutation is a change that occurs in our DNA sequence, either
due to mistakes when the DNA is copied or as the result of
environmental factors such as UV light and cigarette smoke.
Over a lifetime our DNA? can undergo changes or mutations? in
the sequence of bases?, A, C, G and T.

This results in changes in the proteins? that are made. This can be
a bad or a good thing.

Mutations can occur during DNA replication? if errors are made

and not corrected in time.

Mutations can also occur as the result of exposure to

environmental factors such as smoking, sunlight and radiation.

Often cells can recognise any potentially mutation-causing damage

and repair it before it becomes a fixed mutation.

Mutations contribute to genetic variation? within species?.

Mutations can also be inherited, particularly if they have a positive


For example, the disorder sickle cell anaemia? is caused by a

mutation in the gene? that instructs the building of a protein
called haemoglobin?. This causes the red blood cells? to become an
abnormal, rigid, sickle shape. However, in African populations, having
this mutation also protects againstmalaria?.

However, mutation can also disrupt normal gene activity and cause
diseases, like cancer?

Cancer is the most common human genetic disease; it is caused by

mutations occurring in a number of growth-controlling genes.
Sometimes faulty, cancer-causing genes can exist from birth, increasing
a persons chance of getting cancer.
An illustration to show an example of a DNA mutation.
Image credit: Genome Research Limited

A Mutation occurs when a DNA gene is damaged or changed in such a
way as to alter the genetic message carried by that

A Mutagen is an agent of substance that can bring

about a permanent alteration to the physical
composition of a DNA gene such that the genetic
message is changed.

Once the gene has been damaged or changed the

mRNA transcribed from that gene will now carry an
altered message.

The polypeptide made by translating the altered

mRNA will now contain a different sequence of
amino acids. The function of the protein made by
folding this polypeptide will probably be changed or
lost. In this example, the enzyme that is catalyzing
the production of flower color pigment has been
altered in such a way it no longer catalyzes the
production of the red pigment.

No product (red pigment) is produced by the altered protein.

In subtle or very obvious ways, the phenotype of the organism carrying

the mutation will be changed. In this case the flower, without the pigment
is no longer red.

Chemical Mutagens change the sequence of bases in a DNA gene in a
number of ways;

mimic the correct nucleotide bases in a DNA molecule, but fail to

base pair correctly during DNA replication.

remove parts of the nucleotide (such as the amino group on

adenine), again causing improper base pairing during DNA

add hydrocarbon groups to various nucleotides, also causing

incorrect base pairing during DNA replication.

Radiation High energy radiation from a radioactive material or from X-

rays is absorbed by the atoms in water molecules surrounding the DNA.
This energy is transferred to the electrons which then fly away from the
atom. Left behind is a free radical, which is a highly dangerous and
highly reactive molecule that attacks the DNA molecule and alters it in
many ways.
Radiation can also cause double strand breaks in the DNA molecule,
which the cell's repair mechanisms cannot put right.

Sunlight contains ultraviolet radiation (the component that causes a

suntan) which, when absorbed by the DNA causes a cross link to form
between certain adjacent bases. In most normal cases the cells can repair
this damage, but unrepaired dimers of this sort cause the replicating
system to skip over the mistake leaving a gap, which is supposed to be
filled in later.
Unprotected exposure to UV radiation by the human skin can cause
serious damage and may lead to skin cancer and extensive skin tumors.

Spontaneous mutations occur without exposure to any obvious

mutagenic agent. Sometimes DNA nucleotides shift without warning to a
different chemical form (know as an isomer) which in turn will form a
different series of hydrogen bonds with it's partner. This leads to mistakes
at the time of DNA replication.

The causes of mutations

Mutations happen for several reasons.

1. DNA fails to copy accurately

Most of the mutations that we think matter to evolution are "naturally-occurring." For
example, when a cell divides, it makes a copy of its DNA and sometimes the copy is
not quite perfect. That small difference from the original DNA sequence is a mutation.
To download this image, right-click (Windows) or control-click (Mac) on
the image and select "Save image."

2. External influences can create mutations

Mutations can also be caused by exposure to specific chemicals or radiation. These agents
cause the DNA to break down. This is not necessarily unnatural even in the most
isolated and pristine environments, DNA breaks down. Nevertheless, when the cell repairs
the DNA, it might not do a perfect job of the repair. So the cell
would end up with DNA slightly different than the original DNA
and hence, a mutation.

Types of mutations
There are many different ways that DNA can be changed, resulting in
different types of mutation. Here is a quick summary of a few of these:
A substitution is a mutation that exchanges one base
for another (i.e., a change in a single "chemical
letter" such as switching an A to a G). Such a
substitution could:

1. change a codon to one that encodes a

different amino acid and cause a small change
in the protein produced. For example,sickle
cell anemia is caused by a substitution in the
beta-hemoglobin gene, which alters a single
amino acid in the protein produced.

2. change a codon to one that encodes the same

amino acid and causes no change in the
protein produced. These are called silent

3. change an amino-acid-coding codon to a

single "stop" codon and cause an incomplete
protein. This can have serious effects since
the incomplete protein probably won't
Insertions are mutations in which extra base pairs are inserted into a
new place in the DNA.

Deletions are mutations in which a section of DNA is lost, or deleted.

Since protein-coding DNA is divided into codons three bases long,
insertions and deletions can alter a gene so that its message is no
longer correctly parsed. These changes are called frameshifts.

For example, consider the sentence, "The fat cat sat." Each word
represents a codon. If we delete the first letter and parse the sentence
in the same way, it doesn't make sense.

In frameshifts, a similar error occurs at the DNA level, causing the

codons to be parsed incorrectly. This usually generates truncated
proteins that are as useless as "hef atc ats at" is uninformative.

There are other types of mutations as well, but this short list should give
you an idea of the possibilities.

The causes of mutations

Mutations happen for several reasons.

1. DNA fails to copy accurately

Most of the mutations that we think matter to evolution are "naturally-occurring." For example,
when a cell divides, it makes a copy of its DNA and sometimes the copy is not quite perfect.
That small difference from the original DNA sequence is a mutation.
2. External influences can create mutations
Mutations can also be caused by exposure to specific chemicals or radiation. These agents cause
the DNA to break down. This is not necessarily unnatural even in the most isolated and
pristine environments, DNA breaks down. Nevertheless, when the cell repairs the DNA, it might
not do a perfect job of the repair. So the cell would end up with DNA slightly different than the
original DNA and hence, a mutation.

The effects of mutations

Since all cells in our body contain DNA, there are lots of places for mutations to occur; however,
some mutations cannot be passed on to offspring and do not matter for evolution. Somatic
mutations occur in non-reproductive cells and won't be passed onto offspring. For example, the
golden color on half of this Red Delicious apple was caused by a somatic mutation. Its seeds will
not carry the mutation.

The only mutations that matter to large-scale evolution are those that can
be passed on to offspring. These occur in reproductive cells like eggs and
sperm and are called germ line mutations.

Effects of germ line mutations

A single germ line mutation can have a range of effects:

1. No change occurs in phenotype.

Some mutations don't have any noticeable effect on the
phenotype of an organism. This can happen in many situations:
perhaps the mutation occurs in a stretch of DNA with no
function, or perhaps the mutation occurs in a protein-coding
region, but ends up not affecting the amino acid sequence of
the protein.

2. Small change occurs in phenotype.

A single mutation caused this cat's ears to curl backwards
3. Big change occurs in phenotype.
Some really important phenotypic changes, like DDT resistance
in insects are sometimes caused by single mutations. A single
mutation can also have strong negative effects for the organism.
Mutations that cause the death of an organism are called lethals
and it doesn't get more negative than that.

Little mutations with big effects: Mutations to control genes

Mutations are often the victims of bad press unfairly stereotyped as unimportant or as a cause
of genetic disease. While many mutations do indeed have small or negative effects, another sort
of mutation gets less airtime. Mutations to control genes can have major (and sometimes
positive) effects.

Some regions of DNA control other genes, determining when and where other genes are turned
"on". Mutations in these parts of the genome can substantially change the way the organism is
built. The difference between a mutation to a control gene and a mutation to a less powerful
gene is a bit like the difference between whispering an instruction to the trumpet player in an
orchestra versus whispering it to the orchestra's conductor. The impact of changing the
conductor's behavior is much bigger and more coordinated than changing the behavior of an
individual orchestra member. Similarly, a mutation in a gene "conductor" can cause a cascade of
effects in the behavior of genes under its control.
Many organisms have powerful control genes that determine how the body is laid out. For
example, Hox genes are found in many animals (including flies and humans) and designate
where the head goes and which regions of the body grow appendages. Such master control
genes help direct the building of body "units," such as segments, limbs, and eyes. So evolving a
major change in basic body layout may not be so unlikely; it may simply require a change in a
Hox gene and the favor of natural selection.

Mutations to control genes can transform one body part into another. Scientists
have studied flies carrying Hox mutations that sprout legs on their foreheads
instead of antennae!

Genetic variation
Without genetic variation, some of the basic mechanisms of evolutionary change cannot operate.

There are three primary sources of genetic variation, which we will learn more about:

1. Mutations are changes in the DNA. A single mutation can have a large effect, but in
many cases, evolutionary change is based on the accumulation of many mutations.

2. Gene flow is any movement of genes from one population to another and is an
important source of genetic variation.

3. Sex can introduce new gene combinations into a population. This genetic shuffling is
another important source of genetic variation.

Genetic diversity
Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species.
It is distinguished from genetic variability, which describes the tendency of genetic characteristics to

Genetic diversity serves as a way for populations to adapt to changing environments. With more
variation, it is more likely that some individuals in a population will possess variations of alleles that
are suited for the environment. Those individuals are more likely to survive to produce offspring
bearing that allele. The population will continue for more generations because of the success of
these individuals.[1]

The academic field of population genetics includes several hypotheses and theories regarding
genetic diversity. Theneutral theory of evolution proposes that diversity is the result of the
accumulation of neutral substitutions. Diversifying selection is the hypothesis that two
subpopulations of a species live in different environments that select for different alleles at a
particular locus. This may occur, for instance, if a species has a large range relative to the mobility of
individuals within it. Frequency-dependent selection is the hypothesis that as alleles become more
common, they become more vulnerable. This occurs in hostpathogen interactions, where a high
frequency of a defensive allele among the host means that it is more likely that a pathogen will
spread if it is able to overcome that allele.

Importance of genetic diversity

A 2007 study conducted by the National Science Foundation found that genetic diversity
and biodiversity (in terms of species diversity) are dependent upon each otherthat diversity within
a species is necessary to maintain diversity among species, and vice versa. According to the lead
researcher in the study, Dr. Richard Lankau, "If any one type is removed from the system, the cycle
can break down, and the community becomes dominated by a single
species."[2] Genotypic andphenotypic diversity have been found in all species at the protein, DNA,
and organismal levels; in nature, this diversity is nonrandom, heavily structured, and correlated with
environmental variation and stress.[3]

The interdependence between genetic and species diversity is delicate. Changes in species diversity
lead to changes in the environment, leading to adaptation of the remaining species. Changes in
genetic diversity, such as in loss of species, leads to a loss of biological diversity.[1] Loss of genetic
diversity in domestic animal populations has also been studied and attributed to the extension of
markets and economic globalization.[4][5]

Survival and adaptation[edit]

Genetic diversity plays an important role in the survival and adaptability of a species. [6] When a
population's habitat changes, the population may have to adapt to survive; the ability of the
population to adapt to the changing environment will determine their ability to cope with an
environmental challenge.[7] Variation in the population's gene pool provides variable traits among the
individuals of that population. These variable traits can be selected for, via natural selection,
ultimately leading to an adaptive change in the population, allowing it to survive in the changed
environment. If a population of a species has a very diverse gene pool then there will be more
variety in the traits of individuals of that population and consequently more traits for natural selection
to act upon to select the fittest individuals to survive.

Genetic diversity is essential for a species to evolve. With very little gene variation within the
species, healthy reproduction becomes increasingly difficult, and offspring are more likely to have
problems resulting from inbreeding.[8] The vulnerability of a population to certain types
of diseases can also increase with reduction in genetic diversity. Concerns about genetic diversity
are especially important with large mammals due to their small population size and high levels of
human-caused population effects.[9]

Agricultural relevance[edit]

When humans initially started farming, they used selective breeding to pass on desirable traits of the
crops while omitting the undesirable ones. Selective breeding leads to monocultures: entire farms of
nearly genetically identical plants. Little to no genetic diversity makes crops extremely susceptible to
widespread disease; bacteria morph and change constantly and when a disease-causing bacterium
changes to attack a specific genetic variation, it can easily wipe out vast quantities of the species. If
the genetic variation that the bacterium is best at attacking happens to be that which humans have
selectively bred to use for harvest, the entire crop will be wiped out. [10]

A very similar occurrence is the cause of the infamous Potato Famine in Ireland. Since new potato
plants do not come as a result of reproduction, but rather from pieces of the parent plant, no genetic
diversity is developed, and the entire crop is essentially a clone of one potato, it is especially
susceptible to an epidemic. In the 1840s, much of Ireland's population depended on potatoes for
food. They planted namely the "lumper" variety of potato, which was susceptible to a rot-
causing oomycete called Phytophthora infestans.[11] This oomycete destroyed the vast majority of the
potato crop, and left one million people to starve to death.

Livestock biodiversity[edit]

The genetic diversity of livestock species allows animal production to be practiced in a range of
environments and with a range of different objectives. It provides the raw material for selective
breeding programmes and allows livestock populations to adapt as environmental conditions

Livestock biodiversity can be lost as a result of breed extinctions and other forms of genetic erosion.
As of June 2014, among the 8 774 breeds recorded in the Domestic Animal Diversity Information
System (DAD-IS), operated by the Food and Agriculture Organization of the United Nations (FAO),
17 percent were classified as being at risk of extinction and 7 percent already extinct. [13] There is now
a Global Plan of Action for Animal Genetic Resources that was developed under the auspices of
the Commission on Genetic Resources for Food and Agriculture in 2007, that provides a framework
and guidelines for the management of animal genetic resources.

Awareness of the importance of maintaining animal genetic resources has increased over time. FAO
has published two reports on the state of the world's animal genetic resources for food and
agriculture, which cover detailed analyses of our global livestock diversity and ability to manage and
conserve them.

Coping with low genetic diversity[edit]

Photomontage of planktonic organisms.

A Tanzanian cheetah.

The natural world has several ways of preserving or increasing genetic diversity. Among
oceanic plankton,viruses aid in the genetic shifting process. Ocean viruses, which infect the
plankton, carry genes of other organisms in addition to their own. When a virus containing the genes
of one cell infects another, the genetic makeup of the latter changes. This constant shift of genetic
makeup helps to maintain a healthy population of plankton despite complex and unpredictable
environmental changes.[14]

Cheetahs are a threatened species. Low genetic diversity and resulting poor sperm quality has
made breeding and survivorship difficult for cheetahs. Moreover, only about 5% of cheetahs survive
to adulthood.[15] However, it has been recently discovered that female cheetahs can mate with more
than one male per litter of cubs. They undergo induced ovulation, which means that a new egg is
produced every time a female mates. By mating with multiple males, the mother increases the
genetic diversity within a single litter of cubs.[16]

Measures of genetic diversity[edit]

Genetic Diversity of a population can be assessed by some simple measures.

Gene Diversity is the proportion of polymorphic loci across the genome.

Heterozygosity is the fraction of individuals in a population that are heterozygous for a

particular locus.

Alleles per locus is also used to demonstrate variability.

Nucleotide diversity is the extent of nucleotide polymorphisms within a population, and is
commonly measured through molecular markers such as micro- and minisatellite sequences,
mitochondrial DNA,[17] and single-nucleotide polymorphisms (SNPs).

Other measures of diversity[edit]

Alternatively, other types of diversity may be assessed for organisms:

species diversity

ecological diversity

morphological diversity


There are broad correlations between different types of diversity. For example, there is a close link
between vertebrate taxonomic and ecological diversity.[18]

Ways to measure Genetic variation;

Over the last century and a half, various population or ecologist geneticists and
evolutionists have attempted to estimate the genetic variability of species and of their
populations. Why should so many be interested in the genetic diversity of

Before we start in with techniques which researchers do use to measure this diversify,
let us review some reasons for population variability

Potential causes for differing levels of genetic variability include:

+ Ability to respond to changing environmental conditions is an obvious

response by an ecologist; species supposedly maintain this by high outcrossing
rates, high ploidy levels, and through dispersal of individuals between

- Inability of species to delete or repair mutations- see the diagram below for
types of mutations which may result in genetic changes...one can understand
how point mutations and deletions may result in new genotypes, but how can
translocations and inversions affect the population?

-/+ Non-necessity to rid species of mutations as most are neutral or at least

selection pressure is not high enough to eliminate genes, especially if heterosis
is involved.

+? Merging of 2 or more subspecies, differing populations or hybridization of

two species [ more likely in plants or lower animals]

- Small populations have undergone drift thus reducing variability - when

population size has undergone major fluctuations in size at one point in time at
the low point in size, few genotypes may have survived... and though
population size later increases, few alleles exist.

Can you add other factors which may alter genetic variability?

Now to the question, how did or do these evolutionary biologists actually measure or
estimate population variability. There are four major techniques employed listed in
chronological order of initial development:
Measurement of phenotypic traits of a population

Identification of chromosomal variation

Allozymic variation

DNA fingerprinting and Mitochondrial DNA analysis

Measurement of phenotypic traits

The concept that morphological variation has a genetic basis goes back thousands of
years. The selection by humans of crops which would produce larger seed or farm
animals that were tamer or dogs with pointy ears and longer legs is long withstanding.
Thus it is no surprise that a number of evolutionists can find morphological
differences either between or within populations that is genetically based.

Perhaps one of the best studied examples of natural phenotypic variation is that of the
yarrow plant, Achillea. studied by Clausen, Keck and Heisey in the late '40's. Since
the species can be found in the Sierra Nevadas from the lowlands to high in the tundra
it is not unexpected that it would vary in size along a transect - plants generally
decrease in size along most altitudinal gradients. The questions was, was this
phenotypic variation a plastic response or expression of a single genotype due to the
lack of resources i.e.. moisture, shorter growing season or due to true genetic
differences between subpopulations along the slope.

They resolved the question by transplanting seedlings from high, low and medium
elevation sites to gardens located at the coast, mid elevation [1300 meters] and at
timberline [ 3400 meters].

lowland pop mid elevation pop timberline pop

coastal garden 83.6 cm. 58.2 15.5

mid elevation 79.6 82.4 34.3

timberline 21.2 31.6 23.7

Some populations are obviously more plastic than others - why?

What are the pros and cons of this transplanting technique to determine heritability of
phenotypic traits?

Identification of chromosomal variation

Chromosomes may vary in size, shape ( one or two armed) , banding patterns with
staining, numbers and position ( some cases they may form rings or odd

A number of critical studies are based on the analysis of chromosomal variants or

karyotypes of fruit flies along geographical gradients. Dobzhansky was able to
identify 4 major gene arrangements in the 3d chromosome of Drosophila
pseudoobscura, He interpreted these arrangements as coadapted gene complexes
protected from recombination via inversion.

Others have used Geimsa staining band patterns to reveal patterns which correlated
with environmental gradients or with mating restrictions.

Pros: With training, differences in karotypes may be readily studied

Con? DNA: It is unlikely that there is always a molecular connection with karyotypes
differences in wildlife. However in the better studied human populations, a number of
deviations have been related to specific genetic diseases

Allozymic variation

Allozymes identify protein variants of the same gene; they are due to amino acid
substitutions in proteins. .

After grinding tissue to release the cytoplasm, wicks are used to absorb the the
resulting extract and placed in a slit cut into a starch gel, Acrylamide gels or agarose
gels are also used in which case the extract is loaded into a well. A low current is run
across the gel resulting in a positive and negative ends. Proteins are separated by
charge and size, with the smaller and more highly charged molecules moving more
quickly across the gel.

After the run is completed the gel is sliced horizontally to produce 2 or more slices.
Each slice is stained with the appropriate substrate, cofactors and energy source under
controlled conditions of temperature and pH. Given there is genetic variability
reflected by alleles that produce proteins of different charge and size, these protein
variants will show up as bands. A heterozygote may show 2 bands, homozygote one
and a polyploid many.


This techniques does underestimate true genetic variability as there may be an amino
acid substitution but if the aa is not charged differently than the original no differential
migration will appear.- approximately 1/3 of the true genetic variation is thus not
expressed by this technique. A an example follows:

Genetic variability in African catfish

Genetic variability in both domestic and wild populations has been assessed using
allozymes and microsatellite DNA as markers. Microsatellite markers, which are
comprised of non- coding chromatin material, have a greater degree of
polymorphism than allozymes and have been found to be more useful in assessing
variability in populations. They also have the added advantage of being easy to use
in population studies carried out in the field, since preservation in ethanol is a
simple process.

Analysis (using 7 microsattelite and 25 allozyme markers) of natural populations

from 11 localities within the native range indicated a generally high genetic
variability (mean expected heterozygosity He up to 78%), particularly when
comparing populations from difference catchments. Variability in African catfish is
generally higher than in other riverine catfish species such as Eutropius niloticus,
Schilbe mystus, Chrysichthys nigrodigitatus and C. anguillaris. There are however
some significant departures from this finding, particularly in South Africa where
the population from the van der Kloof Dam (Orange River) has a much lower
degree of variability. Domesticated populations have generally been found to have a
low genetic variability in comparison with wild populations.

Galbusera et al 1996; Galbusera 1997; Teugels et al 1992; Volckaert & Agnese 1996

Additional problems:

....there is the possibility that a particular isozyme may not be expressed in the
organism at that time, thus underestimating heterozygosity. There may be
developmental or environmental interactions.

....Also there must be some real attempt to determine the genetic basis of these
banding patterns which is not typically done- this requires crossing individuals of
known genotypes which is pretty difficult to do with wild animals populations. Other
wise bands expressed due to protein-molecular bondings may be interpreted as

Rather than just measuring one gene, you can estimate variability of an individual
using as many 20-30 genes products [ or more if you can afford it]. Majority of these
proteins are common to all organisms so you can compare across species.

Since proteins are direct products of genes, we are closer to the true gene level

Since you know the enzyme and its role in the organism you can more directly
understand the relationship between frequency differences and the given environment.
This is not always true but can be if you are willing to further investigate
physiological associations between enzyme activity and a given environmental

Although not cheap, it can be accomplished at a reasonable cost.

Results from thousands of analyses: How would you interpret the following results?

biotic grouping % of polymorphic loci heterozygosity

plants .26 .07

invertebrates .40 .10

insects .33 .07

fruit flies .43 .14

amphibia .27 .08

reptiles .22 .05

birds .15 .05

mammals .15 .04

Data obtained may be used to also estimate divergence between populations, species.

DNA fingerprinting:

Minisatellites or hypervariable regions that are made up of short segments continuing

multiple copies of a short sequence that can be analyzed readily. The variability of
individual minisatellite loci is the result of mutations that cause the gain or loss of
repeat units- these units are thought to be noncoding regions.

A DNA fingerprint is constructed by first extracting a DNA sample from body tissue
or fluid. The sample is then segmented using restriction enzymes. The segments are
marked with probes and exposed on X-ray film, where they form a pattern of black
bars&emdash;the DNA fingerprint. If the DNA fingerprints produced from two
different samples match, the samples probably came from the same organism.

The proposal copied below is an actual example of how DNA analysis is being used to
genetically analyze wild populations: Please read through!

Title: Genetic Diversity Monitoring in Plants and Wildlife

Agency: U.S. Environmental Protection Agency // Laboratory: Environmental

Monitoring Systems Laboratory //Proposal ID: #246

Problem Statement:

Goal: The goal of this project is to monitor the genetic diversity of feral populations in
ecologically sensitive areas using DNA fingerprinting technologies. Loss of diversity
resulting from habitat destruction and pollution is a major concern in wildlife
populations. The genetic diversity or total gene ensemble of a population reflects its
intrinsic robustness. Loss of genetic diversity leaves a species less able to adapt to
new environmental stressors; therefore, loss of population genetic diversity can
foreshadow species loss, with resultant loss of biological diversity within an
Background: Undisturbed natural populations tend to maintain a high degree of
biological diversity or polymorphism, but any environmental stress that eliminates a
large fraction of individuals from the breeding population can eliminate (by pure
chance) important genetic variants. This phenomenon, known as a genetic
"bottleneck", leads to a reduction of heterozygosity in succeeding generations. The
overall effect is populations with greater vulnerability to future stresses. Therefore,
quantitative measures of genetic diversity can be useful as indicators of past
environmental insult as well as criteria for targeting potentially sensitive, i.e.,
genetically homogeneous populations.

Measurement of population genetic diversity directly supports the SERDP

Conservation thrust area as an assessment tool to identify vulnerable populations and
subpopulations of many species of animals and plants, and to monitor their responses
to ongoing conservation and protection efforts. This project will have both basic
research and applied research components. Enhancement of fingerprinting
technologies and statistical evaluations will continue, especially as new species are
examined. Once the analytical strategy for a species or genus is established it will be
applied to a myriad of situations confronting member populations. This proposal is for
continuation and enhancement of the efforts to develop fingerprinting technologies as
genetic diversity measures currently underway in this laboratory with SERDP support.

Project Description:

Technical Objectives: The technique of DNA fingerprinting is being widely used to

determine the identity and relatedness of individuals (particularly humans), and is also
attracting attention as a tool for assessment of genetic variations within and between
populations. Genetic distinctions between individuals will be demonstrated by
analyzing unique differences in DNA, even in species that are otherwise genetically
uncharacterized. The summation of DNA fingerprint differences of many individuals
will provide a measure of genetic diversity in the population from which those
individuals are derived.

Technical Approach: In this laboratory, we are currently adapting two different, but
complementary, fingerprinting techniques for use in several species of fish and
terrestrial animals. The first method relies on the presence of short repetitive DNA
sequences interspersed throughout the genomes of most organisms. These DNA
sequences, called VNTRs (variable number of tandem repeats), exhibit high
variability within a population. Bands visualized on a Southern blot of target genomic
DNA, using radiolabeled probes specific to the repeat sequence, are the genetic
identity of an individual. Comparison of the banding patterns among individuals from
a population yields a measure of genetic variation within that population.
Comparisons across populations yield measures of relative genetic variation and also
of the degree genetic relatedness of the populations. This method is being applied to a
test sample of DNAs purified from more than seventy individual brown bullhead
catfish representing three populations from both environmentally impacted and clean

The second fingerprint method is based on thermal cycle polymerase chain reaction
(PCR). In this procedure, DNA marker bands are biochemically multiplied by a
cyclical enzymatic reaction with target DNA. This amplification process occurs when
synthetic 10-base DNA molecules, used in the reaction, match exactly with regions in
the DNA of interest. This is termed DAF, or DNA Amplification Fingerprinting. DAF
reactions, for each of 400 commercially available synthetic 10-base molecules, yield
several distinct bands or amplification products - depending on the species surveyed.
These products ( 5,000 base pairs) from PCR reactions are visually analyzed by gel
electrophoresis in agarose or polyacrylamide. Genomic DNA from two individuals
within a species often produce disparate amplification banding patterns. A particular
DNA band which is generated from the genome of one individual, but absent in a
second individual, represents a polymorphism which can serve as a genetic marker.
These markers, presumed to be allelic, are inherited in a Mendelian fashion. By
statistically analyzing the segregation of these marker among the progeny of a sexual
cross, or individual members of a population, genetic maps and indices of
heterozygosity of virtually any species can be assembled.

Also, we have developed an ecologically based method of tissue/DNA acquisition for

direct use in DNA Amplification Fingerprint reactions. This simple and rapid
technique, which is non-intrusive to terrestrial and aquatic animals, obviates need for
radionuclides and isolation, purification, and quantitation of genomic DNA for
thermal cycle amplification reactions. This method combines the powerful tools of
genetic analysis with an ecologically favorable means of sample acquisition. The
strategy is particularly useful when collecting field specimens for population or
forensic analysis, or species verification on field specimens and endangered species.

Using the raw fingerprint data from both of these methods, several mathematical
treatments for assessing DNA fingerprint diversity are being examined and compared
in order to determine the best statistically valid approach. This part of the effort is
being done in conjunction with Dr. Vicki Hertzberg with a Cooperative Agreement
funded by SERDP.

Since methods of DNA fingerprinting are under continuous and rapid advancement
within the scientific community, we are requesting continuing SERDP support for
development of the most efficacious system for each new species to which population
genetic diversity measures are applied. Most particularly we will be expanding our
efforts to examine plant population genetics. We intend to use an expanding battery of
VNTR probes, such as PCR generated synthetic tandem repeat (STR) probes. We
intend to adapt the new non-isotopic probe labeling techniques for use with our
fingerprinting methods, which would avoid the use of radioisotopes, providing the
advantages of standardization due to a long probe shelf-life and portability of methods
to laboratories not equipped for radioisotopes usage.

We also will require continuous statistical support in order to tabulate and analyze
data generated as each new population and species is examined but to continue to
develop and refine the statistical methods required. Each new species will present not
only a unique set of banding patterns to be analyzed, but these analyses will need to
take into account characteristic higher-order population dynamics, most notably
differences in breeding strategies.

We expect ever-increasing liaison with field ecologists who are experienced with and
possess detailed knowledge of each relevant population. When appropriate, these
interactions will be formalized as cooperative agreements. This will provide detailed
expertise and assistance in field sample collection.

These fingerprint measures of population genetic diversity will directly support the
conservation efforts of DoD/DOE by providing assessment tools for monitoring,
protecting and rehabilitating natural ecosystems.

Expected Payoff:

This method will provide a rapid, non-invasive, and cost effective monitoring method
in the form of an assessment of population genetic robustness for virtually any
species, animal or plant, aquatic or terrestrial. It is anticipated that it can be modified
into a commercially available, field usable tool and marketed via a CRADA.

Measuring Genetic Diversity

Before selecting the parents you wish to use for your MAB work, you may
need to assess the genetic diversity that is available in your germplasm set (or
that which you have acquired from genebanks or other sources), unless this
work has been done previously. The goal is to select parents that are
genetically diverse enough that you can identify differences polymorphisms
in the progeny. This may include the need for a particular trait that appears
in an accession, or just a general need for more diversity. There is no set
level of genetic diversity required, and each crop is different.
There are many methods of measuring genetic diversity in potential parents.
We will not go over the various methods of genetic diversity assessment here,
but we refer you to the resources at the end of this section. In general the
methods can include in-depth calculations of allele frequencies, genetic
distance calculations, etc. or can be just a simple measure of what percentage
of molecular markers assessed show polymorphism between two parents.
This could give you enough information to be able to select parents for a new
breeding population.

In brief, here are just a few of the measures of genetic diversity:

Based on the number of variants among the alleles

Polymorphism or rate of polymorphism (Pj)

Proportion of polymorphic loci

Number of alleles (A) and allelic richness (As)

Average number of alleles per locus

Based on the frequency of variant alleles

Average expected heterozygosity

(He; Neis genetic diversity

The genetic distance between two samples is described as the proportion of

genetic elements (alleles, genes, gametes, genotypes) that the two samples
do not share. See de Vicente, Lopez and Fulton 2004 for more details, in
particular Chapter 3.

Clearly the use of markers is needed for these measures of genetic diversity.
Many different types of markers can be used. The Resources at the end of
this module include examples and comparisons, as well as software programs
available for the calculations. As with most statistics in MAB, there are no
specific cut-offs for what levels of diversity are good this is something you
must decide, with your goals and germplasm specifics in mind. The results of
genetic diversity analyses can be a simple measure of genetic distance, or the
commonly seen phenograms/dendrograms (trees) or cluster diagrams
(Figure 12).

12: Using
markers to
of 22
using 28


In general, one crossing parent in a MAB project is a cultivated variety that

needs improvement in one or more traits, and the other parent is selected
either because it exhibits some particular desired trait or is only distantly
related to the first parent (and therefore has the potential to have new alleles
for a number of traits).

Here are just a few of the free software programs available (see de Vicente,
Lopez, and Fulton 2004 for a more exhaustive list). Note: you should always
get statistical assistance when analyzing your

How Genes Cause Cancer

In order to understand the genetic mechanisms of how genes cause cancer, it

is important to review some basic genetic concepts. Genes come in pairs, and
work together to make a protein product. One member of the gene pair comes
from the mother, while the other member is inherited from the father. Eggs and
sperm are called "germ cells." When an alteration or mutation in a gene is
present in the germ cells, it is referred to as a "germline mutation." When a
germline mutation is inherited, it is present in all body cells. On the other hand,
mutations that we are not born with, but that occur by chance over time in cells
of the body are said to be "acquired." Acquired mutations are not present in all
cells of the body, are not inherited, and are not passed down to our children.
Acquired mutations are always involved in causing cancer. Germline mutations
are involved in a small percentage of cases.
The formation of tumors basically results from cell growth that gets out of
control. In the human genome, there are many different types of genes that
control cell growth in a very systematic, precise way. When these genes have
an error in their DNA code, they may not work properly, and are said to be
"altered" or mutated. An accumulation of many mutations in different genes
occurring in a specific group of cells over time is required to cause
malignancy. The different types of genes, that when mutated, can lead to the
development of cancer are described below. Remember, it takes mutations in
several of these genes for a person to develop cancer. What specifically
causes mutations to occur in these genes is largely unknown. However,
mutations can be caused by carcinogens (environmental factors known to
increase the risk of cancer). The development of mutations is also a natural
part of the aging process.


Oncogenes are altered forms of genes known as proto-oncogenes. Proto-

oncogenes are responsible for promoting cell growth. When altered or
mutated, they become oncogenes and then can promote tumor formation or

Properties of oncogenes include the following:

Mutations in proto-oncogenes are usually acquired. The exception is

that mutations in the RET proto-oncogene can be inherited and cause a
condition called multiple endocrine neoplasia type II.
Having a mutation in just one of the two copies of a particular proto-
oncogene is enough to cause a change in cell growth and the formation of a
tumor. For this reason, oncogenes are said to be "dominant" at the cellular

Tumor suppressor genes

Tumor suppressor genes are genes normally present in our cells. When
working properly, they control the processes of cell growth and cell death
(called apoptosis). Through these processes, they can also suppress tumor
development. When a tumor suppressor gene is mutated, this can lead to
tumor formation or growth.

Properties of tumor suppressor genes include the following:

Both copies of a specific tumor suppressor need to be mutated (both

members of the gene pair) in order to cause a change in cell growth and
tumor formation to occur. For this reason, tumor suppressor genes are said to
be "recessive" at the cellular level.
Mutations in tumor suppressor genes are usually acquired. The two
mutations in a tumor suppressor gene pair may occur as the result of aging
and/or environmental exposures.
A mutation in a tumor suppressor gene can also be inherited. In these
cases, a mutation in one copy of the tumor suppressor gene pair is inherited
from a parent, and therefore present in all cells of a person (germline
mutation). The mutation in the second copy of the gene (which is necessary
for tumor formation and cell growth change) is acquired and usually occurs
only in a single cell or a handful of cells. If the second "hit" or mutation occurs
in a type of cell that needs this particular tumor suppressor gene to control cell
growth, the process of tumor formation will begin. This mechanism is also
known as the "two-hit theory."
Most of the genes associated with hereditary cancer are tumor
suppressor genes. Nonetheless, most mutations in tumor suppressor genes
are not inherited.

DNA repair genes

During cell division, the DNA in a cell makes a copy or replica of itself. During
this complex process, mistakes may occur. Mismatch-repair genes are DNA
repair genes that correct these naturally occurring spelling errors in the DNA.
When these genes are altered or mutated, however, mismatches (mistakes) in
the DNA remain. If these mistakes occur in tumor suppressor genes or proto-
oncogenes, eventually this will lead to uncontrolled cell growth and tumor
formation. There are other types of DNA repair genes that repair errors in DNA
that occur from mutagenic agents such as large doses of radiation.

Properties of DNA repair genes include the following:

Mutations in DNA repair genes can be inherited from a parent or

acquired over time as the result of aging and environmental exposures.
DNA repair genes require two mutations (both members of the gene
pair) in order for the process of tumor formation to occur. For this reason,
mismatch-repair genes are said to be "recessive" at the cellular level.

Remember that it takes mutations in several of these genes for cancer to

develop. In most cases of cancer, all the mutations are acquired. In inherited
cancer, one mutation is passed down from the parent, but the remainder are
acquired. Because it takes more than a single mutation to cause cancer, not
all people who inherit a mutation in a tumor suppressor gene, proto-oncogene,
or DNA repair gene will develop cancer.
A Collection of Related Diseases
Cancer is the name given to a collection of related diseases. In all types of
cancer, some of the bodys cells begin to divide without stopping and spread
into surrounding tissues.

Cancer can start almost anywhere in the human body, which is made up of
trillions of cells. Normally, human cells grow and divide to form new cells as
the body needs them. When cells grow old or become damaged, they die,
and new cells take their place.

When cancer develops, however, this orderly process breaks down. As cells
become more and more abnormal, old or damaged cells survive when they
should die, and new cells form when they are not needed. These extra cells
can divide without stopping and may form growths called tumors.

Many cancers form solid tumors, which are masses of tissue. Cancers of the
blood, such as leukemias, generally do not form solid tumors.

Cancerous tumors are malignant, which means they can spread into, or
invade, nearby tissues. In addition, as these tumors grow, some cancer cells
can break off and travel to distant places in the body through the blood or
the lymph system and form new tumors far from the original tumor.

Unlike malignant tumors, benign tumors do not spread into, or invade,

nearby tissues. Benign tumors can sometimes be quite large, however. When
removed, they usually dont grow back, whereas malignant tumors
sometimes do. Unlike most benign tumors elsewhere in the body, benign
brain tumors can be life threatening.

Differences between Cancer Cells and Normal Cells

Cancer cells differ from normal cells in many ways that allow them to grow
out of control and become invasive. One important difference is that cancer
cells are less specialized than normal cells. That is, whereas normal cells
mature into very distinct cell types with specific functions, cancer cells do
not. This is one reason that, unlike normal cells, cancer cells continue to
divide without stopping.

In addition, cancer cells are able to ignore signals that normally tell cells to
stop dividing or that begin a process known as programmed cell death, or
apoptosis, which the body uses to get rid of unneeded cells.

Cancer cells may be able to influence the normal cells, molecules, and blood
vessels that surround and feed a tumoran area known as the
microenvironment. For instance, cancer cells can induce nearby normal cells
to form blood vessels that supply tumors with oxygen and nutrients, which
they need to grow. These blood vessels also remove waste products from

Cancer cells are also often able to evade the immune system, a network of
organs, tissues, and specialized cells that protects the body from infections
and other conditions. Although the immune system normally removes
damaged or abnormal cells from the body, some cancer cells are able to
hide from the immune system.

Tumors can also use the immune system to stay alive and grow. For example,
with the help of certain immune system cells that normally prevent a
runaway immune response, cancer cells can actually keep the immune
system from killing cancer cells.

How Cancer Arises

Cancer is a genetic diseasethat is, it is caused by changes to genes that
control the way our cells function, especially how they grow and divide.

Genetic changes that cause cancer can be inherited from our parents. They
can also arise during a persons lifetime as a result of errors that occur as
cells divide or because of damage to DNA caused by certain environmental
exposures. Cancer-causing environmental exposures include substances,
such as the chemicals in tobacco smoke, and radiation, such as ultraviolet
rays from the sun. (Our Cancer Causes and Risk Factorspage has more
Each persons cancer has a unique combination of genetic changes. As the
cancer continues to grow, additional changes will occur. Even within the
same tumor, different cells may have different genetic changes.

In general, cancer cells have more genetic changes, such as mutations in

DNA, than normal cells. Some of these changes may have nothing to do with
the cancer; they may be the result of the cancer, rather than its cause.

"Drivers" of Cancer
The genetic changes that contribute to cancer tend to affect three main
types of genesproto-oncogenes, tumor suppressor genes, and DNA repair
genes. These changes are sometimes called drivers of cancer.

Proto-oncogenes are involved in normal cell growth and division. However,

when these genes are altered in certain ways or are more active than
normal, they may become cancer-causing genes (or oncogenes), allowing
cells to grow and survive when they should not.

Tumor suppressor genes are also involved in controlling cell growth and
division. Cells with certain alterations in tumor suppressor genes may divide
in an uncontrolled manner.

DNA repair genes are involved in fixing damaged DNA. Cells with mutations
in these genes tend to develop additional mutations in other genes.
Together, these mutations may cause the cells to become cancerous.

As scientists have learned more about the molecular changes that lead to
cancer, they have found that certain mutations commonly occur in many
types of cancer. Because of this, cancers are sometimes characterized by the
types of genetic alterations that are believed to be driving them, not just by
where they develop in the body and how the cancer cells look under the
When Cancer Spreads


In metastasis, cancer cells break away from where they first formed (primary
cancer), travel through the blood or lymph system, and form new tumors
(metastatic tumors) in other parts of the body. The metastatic tumor is the
same type of cancer as the primary tumor.

A cancer that has spread from the place where it first started to another
place in the body is called metastatic cancer. The process by which cancer
cells spread to other parts of the body is called metastasis.

Metastatic cancer has the same name and the same type of cancer cells as
the original, or primary, cancer. For example, breast cancer that spreads to
and forms a metastatic tumor in the lung is metastatic breast cancer, not
lung cancer.

Under a microscope, metastatic cancer cells generally look the same as cells
of the original cancer. Moreover, metastatic cancer cells and cells of the
original cancer usually have some molecular features in common, such as
the presence of specific chromosome changes.

Treatment may help prolong the lives of some people with metastatic cancer.
In general, though, the primary goal of treatments for metastatic cancer is to
control the growth of the cancer or to relieve symptoms caused by it.
Metastatic tumors can cause severe damage to how the body functions, and
most people who die of cancer die of metastatic disease.

Tissue Changes that Are Not Cancer

Not every change in the bodys tissues is cancer. Some tissue changes may
develop into cancer if they are not treated, however. Here are some
examples of tissue changes that are not cancer but, in some cases, are

Hyperplasia occurs when cells within a tissue divide faster than normal and
extra cells build up, or proliferate. However, the cells and the way the tissue
is organized look normal under a microscope. Hyperplasia can be caused by
several factors or conditions, including chronic irritation.

Dysplasia is a more serious condition than hyperplasia. In dysplasia, there is

also a buildup of extra cells. But the cells look abnormal and there are
changes in how the tissue is organized. In general, the more abnormal the
cells and tissue look, the greater the chance that cancer will form.

Some types of dysplasia may need to be monitored or treated. An example

of dysplasia is an abnormal mole (called a dysplastic nevus) that forms on
the skin. A dysplastic nevus can turn into melanoma, although most do not.

An even more serious condition is carcinoma in situ. Although it is sometimes

called cancer, carcinoma in situ is not cancer because the abnormal cells do
not spread beyond the original tissue. That is, they do not invade nearby
tissue the way that cancer cells do. But, because some carcinomas in situ
may become cancer, they are usually treated.
Normal cells may become cancer cells. Before cancer cells form in tissues of
the body, the cells go through abnormal changes called hyperplasia and
dysplasia. In hyperplasia, there is an increase in the number of cells in an
organ or tissue that appear normal under a microscope. In dysplasia, the
cells look abnormal under a microscope but are not cancer. Hyperplasia and
dysplasia may or may not become cancer.

Credit: Terese Winslow

Types of Cancer
There are more than 100 types of cancer. Types of cancer are usually named
for the organs or tissues where the cancers form. For example, lung cancer
starts in cells of the lung, and brain cancer starts in cells of the brain.
Cancers also may be described by the type of cell that formed them, such as
an epithelial cell or a squamous cell.

You can search NCIs website for information on specific types of cancer
based on the cancers location in the body or by using our A to Z List of
Cancers. We also have collections of information on childhood
cancers and cancers in adolescents and young adults.

Here are some categories of cancers that begin in specific types of cells:


Carcinomas are the most common type of cancer. They are formed by
epithelial cells, which are the cells that cover the inside and outside
surfaces of the body. There are many types of epithelial cells, which often
have a column-like shape when viewed under a microscope.

Carcinomas that begin in different epithelial cell types have specific


Adenocarcinoma is a cancer that forms in epithelial cells that produce

fluids or mucus. Tissues with this type of epithelial cell are sometimes
called glandular tissues. Most cancers of the breast, colon, and prostate
are adenocarcinomas.

Basal cell carcinoma is a cancer that begins in the lower or basal (base)
layer of the epidermis, which is a persons outer layer of skin.

Squamous cell carcinoma is a cancer that forms in squamous cells, which

are epithelial cells that lie just beneath the outer surface of the skin.
Squamous cells also line many other organs, including the stomach,
intestines, lungs, bladder, and kidneys. Squamous cells look flat, like fish
scales, when viewed under a microscope. Squamous cell carcinomas are
sometimes called epidermoid carcinomas.

Transitional cell carcinoma is a cancer that forms in a type of epithelial

tissue called transitional epithelium, or urothelium. This tissue, which is
made up of many layers of epithelial cells that can get bigger and smaller,
is found in the linings of the bladder, ureters, and part of the kidneys
(renal pelvis), and a few other organs. Some cancers of the bladder,
ureters, and kidneys are transitional cell carcinomas.



Soft tissue sarcoma forms in soft tissues of the body, including muscle,
tendons, fat, blood vessels, lymph vessels, nerves, and tissue around joints.

Sarcomas are cancers that form in bone and soft tissues, including muscle,
fat, blood vessels, lymph vessels, and fibrous tissue (such as tendons and
Osteosarcoma is the most common cancer of bone. The most common
types of soft tissue sarcoma are leiomyosarcoma, Kaposi
sarcoma, malignant fibrous histiocytoma,liposarcoma,
and dermatofibrosarcoma protuberans.

Our page on soft tissue sarcoma has more information.


Cancers that begin in the blood-forming tissue of the bone marrow are
called leukemias. These cancers do not form solid tumors. Instead, large
numbers of abnormal white blood cells (leukemia cells and leukemic blast
cells) build up in the blood and bone marrow, crowding out normal blood
cells. The low level of normal blood cells can make it harder for the body
to get oxygen to its tissues, control bleeding, or fight infections.

There are four common types of leukemia, which are grouped based on
how quickly the disease gets worse (acute or chronic) and on the type of
blood cell the cancer starts in (lymphoblastic or myeloid).

Our page on leukemia has more information.


Lymphoma is cancer that begins in lymphocytes (T cells or B cells). These

are disease-fighting white blood cells that are part of the immune system.
In lymphoma, abnormal lymphocytes build up in lymph nodes and lymph
vessels, as well as in other organs of the body.

There are two main types of lymphoma:

Hodgkin lymphoma People with this disease have abnormal lymphocytes

that are called Reed-Sternberg cells. These cells usually form from B cells.

Non-Hodgkin lymphoma This is a large group of cancers that start in

lymphocytes. The cancers can grow quickly or slowly and can form from B
cells or T cells.
Our page on lymphoma has more information.

Multiple Myeloma

Multiple myeloma is cancer that begins in plasma cells, another type of

immune cell. The abnormal plasma cells, called myeloma cells, build up in
the bone marrow and form tumors in bones all through the body. Multiple
myeloma is also called plasma cell myeloma and Kahler disease.

Our page on multiple myeloma and other plasma cell neoplasms has more


Melanoma is cancer that begins in cells that become melanocytes, which

are specialized cells that make melanin (the pigment that gives skin its
color). Most melanomas form on the skin, but melanomas can also form in
other pigmented tissues, such as the eye.

Our pages on skin cancer and intraocular melanoma have more


Brain and Spinal Cord Tumors

There are different types of brain and spinal cord tumors. These tumors
are named based on the type of cell in which they formed and where the
tumor first formed in the central nervous system. For example,
an astrocytic tumor begins in star-shaped brain cells called astrocytes,
which help keep nerve cells healthy. Brain tumors can be benign (not
cancer) or malignant (cancer).

Our page on brain and spinal cord tumors in adults has more information,
as does our overview of brain and spinal cord tumors in children.
Other Types of Tumors
Germ Cell Tumors

Germ cell tumors are a type of tumor that begins in the cells that give
rise to sperm or eggs. These tumors can occur almost anywhere in the
body and can be either benign or malignant.

Our page of cancers by body location/system includes a list of germ cell

tumors with links to more information.

Neuroendocrine Tumors

Neuroendocrine tumors form from cells that release hormones into the
blood in response to a signal from the nervous system. These tumors,
which may make higher-than-normal amounts of hormones, can cause
many different symptoms. Neuroendocrine tumors may be benign or

Our definition of neuroendocrine tumors has more information.

Carcinoid Tumors

Carcinoid tumors are a type of neuroendocrine tumor. They are slow-

growing tumors that are usually found in the gastrointestinal system
(most often in the rectum and small intestine). Carcinoid tumors may
spread to the liver or other sites in the body, and they may secrete
substances such as serotonin or prostaglandins, causing carcinoid


Cancer is a disease of cells. The body is made up of a community of individual cells, each of which has a specific
job to ensure that the community functions correctly. Liver cells must detoxify the fluids of the body, lung cells must
exchange oxygen and carbon dioxide from the blood, and skin cells must separate the outside world from the inside
of our body.
In addition to performing their assigned jobs, cells are also good citizens. Cells respect the space of the other cells
around them and support the healthiness of those cells. Occasionally, cells begin to grow in an uncontrolled fashion,
causing many problems for the body. Cancer is a disease of uncontrolled cell growth (or proliferation). Cancer cells
are no longer good citizens. For instance, a liver cell that becomes cancerous no longer does its job of detoxifying the
body. In addition, cancer cells do not respect their neighboring cells and will crowd them out of existence. Cancer
cells push normal cells out of the way and use up all of the nutrients in the body to fuel their own uncontrolled growth.
A group of cancer cells in the body is often called a tumor (a swelling), but not all tumors are cancerous. This concept
is illustrated in Figure 1. Tumors are classified as benign or malignant. Benign tumors typically do not threaten the life
of the patient, although this is not always the case. Benign tumors that develop in the brain can cause serious health
effects or even death because the brain is contained within the skull. As the benign tumor expands, the normal brain
has no place to go to get out of the way and can be damaged by the expanding benign tumor. Malignant tumors (or
cancer) are always serious and will often lead to death if not treated promptly. Malignant tumors often spread (or
metastasize) to other organs.

Fig. 1. The steps involved in the formation of colon cancer or rectal cancer are shown. Cancer is a disease of cells. In
the first drawing (labeled "normal"), note that each of the normal cells are about the same size, are organized in a
orderly fashion, and are all on top of a basement membrane.A basement membrane separates these cells from other
types of cells and from cells of different organs of the body. At some time, a normal cell develops enough mutations
that it begins to grow slightly faster than the cells around it (the reddish cell in the center of the second drawing,
labeled "single hyperproliferative cell"). Hyperproliferative means the cell grows faster than normal cells. When
enough hyperproliferative cells accumulate, a small benign tumor called an adenoma develops (third drawing).
During a colonoscopy, the doctor is looking for such adenomas. If an adenoma is removed at this stage, the patient
will be fine and a cancer will not develop from this particular group of cells. Note two things about the adenoma in the
third drawing: (1) the cells are starting to pile up on one another and they are not organized like normal cells, and (2)
the cells are still on one side the basement membrane. If the adenoma is allowed to remain in the patient for many
years, a cancerous tumor (called a carcinoma) will form inside of the adenoma. The cells in this carcinoma break
through the basement membrane and will spread inside the colon, eventually leaving the colon to spread to other
organs like the liver. In the fourth drawing, a tumor cell can be seen in the lower right hand corner breaking into a
small blood vessel (pink segmented circle). Cancer cells often use body fluids like the bloodstream to spread or

Ultimately, it is this lack of respect for the body by cancer cells that dooms a person to death. To return to our
example of liver cancer, the cancerous liver cells do not perform the job of the liver and destroy the normal liver cells
around them by their lack of respect for those cells. In the end, the person is left without a functional liver and dies of
liver failure.

Cancer is many different diseases. Cancer is not one disease,but literally hundreds of different diseases. This is of
great practical importance to both physicians and patients, because different cancers are treated differently and have
different outcomes for the patient. For instance, breast cancer is different from brain cancer: If caught early, breast
cancer is a very treatable disease, and patients can look forward to a cure and a normal life expectancy. On the other
hand, brain cancer is an extremely aggressive disease, and the outcome is usually poor, regardless of how early the
cancer is detected. Furthermore, brain cancer itself is not one disease but many diseases, each with different
potential outcomes and treatments. In fact, if not caught early, breast cancer very often spreads (metastasizes) to the
brain, and the breast tumor grows in the brain. Ultimately, for a typically non-aggressive disease like breast cancer, it
is the spread of the tumor to a vital organ like the brain that causes illness and death.


Cancer is a genetic disease. Cancer is a genetic disease, and this should not be confused with the statement that
cancer is a hereditary disease. The two statements are profoundly different. A hereditary disease is one that is
passed from the parents to a child through the inheritance of a defective gene. Although in some rare instances, such
as retinoblastoma (a rare childhood tumor of the eye), cancer is hereditary, this is the exception rather than the rule.
Most cancers are not obviously hereditary, although for certain cancers, like breast cancer, there may be a hereditary
component to the disease (a "susceptibility"). However, all cancers are genetic, meaning that they result from the
unnatural function of one or more genes.

Cancer forms when genes within a normal cell are damaged and mutated. Mutations in DNA can occur for many
reasons. Cigarette smoke contains chemicals that will damage DNA. Solar radiation from the sun contains ultraviolet
(or UV) rays that will damage DNA. In most instances, the DNA damage will not lead to cancer or other diseases, but
in some cases the damaged DNA does lead to cancer. There are about 25,000 genes in each human cell, but, in
most cases, a mutation within a gene will not lead to the development of cancer. It is only when mutations occur in
certain key genes that cancer develops. These key genes can be grouped into three classes:

growth promoting genes (called proto-oncogenes) that normally tell the cell when to grow and divide

growth inhibiting genes (calledtumor suppressor genes) whose normal function is to maintain the cell in a
non-dividing state

genes whose function is to repair damage to DNA (called DNA repair genes)

Multiple genes are defective in cancers. Cancer does not occur from a single gene mutation in a single gene.
Instead, the development of cancer involves multiple mutations within several key genes, including mutations in
proto-oncogenes, tumor suppressor genes, and DNA repair genes (Figure 2). The process of accumulating mutations
in several genes like this normally takes many years, and this is why cancer is more frequently seen in older

Fig. 2. Several mutations must occur in the DNA of an individual cell for cancer to develop. Normal cells (light gray)
from one of the body's organs may develop mutations that allow them to grow slightly faster than the cells around
them. These mutated cells (light blue) are not tumor cells yet, because they must undergo further mutations before
cancer can form. Cells developed from these light blue mutated cells form a "larger" target for future mutations
because they grow slightly faster than the cells around them and because they already have at least one mutation on
the way to forming cancer. Finally, when enough mutations are accumulated, cells (dark blue) form a tumor. The
tumor cells are not yet malignant but will soon be if left untreated. Tumor cells develop further mutations and then
change into malignant cancer cells (red). Malignant cells form a cancer at the original organ. These malignant cancer
cells will develop still more mutations and then will spread (metastasize) to other organs through the bloodstream.

How key genes become defective. The answer to the question "How did I get cancer?" is very often difficult to
address. For those who smoke cigarettes and develop lung cancer, the answer is clear: The chemicals in the
cigarette smoke caused mutations in key genes in the cells of your lungs and led to the formation of lung cancer. If
you had never smoked, or if you had quit smoking at an early age, you probably would not have developed lung
cancer. However, for a young woman who exercises and eats correctly but who develops breast cancer at age 41,
the question is much more difficult to answer in an acceptable fashion. We know that mutations occurred in key
genes in the cells of her breast, but identifying the source of those mutations is often impossible. The newly
diagnosed woman is likely to ask, "What did I do to cause this? What could I have done differently to avoid my
cancer?" The answers to these questions remain largely unknown. In some instances, we know that having a mother
or sister who developed breast cancer at a young age puts a woman at an elevated risk for also developing breast
cancer at an early age. In this case, breast cancer is not only genetic, but there is also a hereditary component to the
disease. For breast cancer, the best we can say at this time is this: If you are at elevated risk for breast cancer, talk to
your doctor about setting up a screening program with routine examinations.

Fig. 3. The chemicals in cigarette smoke cause mutations in key genes. In the top portion of the figure is the DNA
molecule. DNA is composed of four bases represented by A, C, G, and T. In this figure, A's are color coded by white,
C's by green, G's by red, and T's by blue. DNA is read by the cell and used as a recipe to produce protein shown by
the blue cubes. When someone smokes, mutations can occur in the DNA molecule and some of the bases change. In
this example, a G is mutated to a T. This causes the protein in the lower panel to be made incorrectly, and such a
defective protein may not perform its intended job properly.


Many of Louisiana's residents have a love-hate relationship with the petrochemical industry. On one hand, the many
chemical plants in the river parishes provide much valued employment and contribute to the development of the
society. On the other hand, many of the chemicals produced by the plants are known or suspected carcinogens, and
many residents fear that the plant that puts food on the table by employing their family members may also be making
their family members sick.

Environmental risks for developing cancer. We predict that as many as 80% of cancers may be attributable to
environmental risk factors. The major environmental risk factors are listed below:

occupational exposure to certain chemicals that cause cancer (see Table I)

environmental pollution

cigarette smoking

excessive alcohol consumption

certain infectious diseases, such as vaginal warts (caused by a virus) or tuberculosis (caused by a

solar radiation (sun exposure)

exposure to ionizing radiation (X-rays, radon gas in the home)

diet (high fat diets; obesity; cured, smoked, or pickled foods)

Among these risk factors, the use of tobacco (cigarette, cigar, pipe, or smokeless tobacco), unhealthy diet (rich in
fatty foods), and physical inactivity (leading to obesity) are more likely to increase a person's cancer risk than the very
low levels of pollutants in food, drinking water, and air. However, the risk from these pollutants increases with larger
concentrations and longer duration of exposure. For instance, significant increases in cancer risk are associated with
workers that have been exposed to high concentrations of ionizing radiation, certain chemicals, metals, and other
substances (see Table I, below). Fortunately, industrial pollution has not had a major effect on cancer incidence.
These pollutants are present in the environment at very low levels, and it does not seem likely that they are a major
contributor to total cancer incidence.

The major risks are easily controllable. Luckily, the environmental risk factors that most significantly contribute to
cancer risk are those that we as individuals can do something about. The use oftobacco causes about 30% of all
cancer deaths. It is by far the major identified cause of human cancer. When a person stops smoking, it substantially
reduces the risk of cancer. After about 20 years of not smoking, the risk of lung cancer for an ex-smoker is about the
same to that for a non-smoker and about ten times less than if smoking had continued. Diet is also a major risk factor
for cancer that can be controlled. Obesity increases the risk of breast cancer (in post-menopausal women), colon
cancer, endometrial cancer (uterine corpus cancer), prostate cancer, uterine cervical cancer, ovarian cancer, and
cancer of the gallbladder. The relative risk of breast cancer in post-menopausal women is 50% higher for the obese.
The relative risk for colon cancer in men is 40% higher for the obese. The relative risks of gallbladder and
endometrial cancer are five times higher for obese individuals compared with individuals with a healthy weight. Other
studies have also shown a possible association between obesity and cancers of the kidney, pancreas, rectum,
esophagus, and liver.

Use of cellular phones is NOT an environmental risk for cancer. Finally, types of questions that are often asked
today are: "Do cell phones cause cancer?" and "Can I get cancer from living underneath power lines?" Cell phones
use radio waves, a very low-energy form of radiation, to transmit signals between caller and receiver. In addition, they
generate very low-energy "power frequency" radiation, just as household appliances and electrical wires. Low-energy
radiation like radio waves, power frequency radiation, radar, and microwaves, have not been proven to cause cancer.
Some early studies suggested that these forms of radiation were associated with cancer, but most of the new, more
extensive research in this area does not suggest an association. The answer to the question is "No": Cellular phones
do not cause brain cancer and living under power lines does not cause leukemia or any other kind of cancer.

Although these low-energy forms of radiation do not cause cancer, exposure to high-energy radiation, like X-rays and
ultraviolet radiation, is a cancer risk. For this reason, a person's exposure to ultraviolet rays from the sun or from
tanning booths (despite how safe tanning booths claim to be) should be limited to short exposures. The X-rays a
person receives in the hospital or clinic when X-rays are taken is not only a short exposure but is also a safe level of
energy. For this reason, there is virtually no risk of developing cancer from medical X-rays.

Table1. Occupational Carcinogens

Carcinogen Occupational Exposure Cancer Risk
4-aminobiphenyl Chemical and dye workers Bladder
Lung, skin, and
Arsenic Mining, pesticide workers
Asbestos Construction workers Lung
Auramine Dye workers Bladder
Leather, petroleum, rubber, and chemical
Benzene Leukemia
Benzidene Chemical, dye, and rubber workers Bladder
Bis (chloromethyl) ether Chemical workers Lung
Chromium Metal workers, electroplaters Lung
Isopropyl alcohol Manufacturing by strong acid process Lung
Leather dust Boot and shoe manufacturing and repair Nasal and bladder
Lung, larynx, and
Mustard gas Mustard gas workers
Naphthylamine Chemical, dye, and rubber workers Bladder
Nickel dust Nickel refining Nasal and lung
Radon Underground mining Lung
Lung, skin, and
Soots, tars, and oils Coal, gas, and petroleum workers
Rubber workers, polyvinyl chloride
Vinyl chloride Liver
Wood dusts Furniture manufacturing Nasal


It is important to understand that cancer is a genetic disease. For most types of cancer,
the mutations that occur in the genes of the cancer cell are caused by exposures to
environmental factors that are controllable. Typically, these controls are easy to
understand as well: quit smoking, use sunscreen, eat a lot of fresh fruits and
vegetables, and lose weight through proper diet and exercise. We have made great
strides in our understanding of the genetics of cancer in the last 30 years. Early
pioneers in the cancer field discovered that certain viruses could cause cancers in
experimental animals. Later, geneticists discovered that the genes that cause cancer
are mutated versions of normal genes found in healthy cells. Finally, we have started
to experiment with the repair of defective genes through a process known as gene
therapy. For the patient, all of this new genetic information about cancer promises to
lead to both better advice for avoiding cancer and better treatments for those who
develop cancer.

American Cancer Society (http://www.cancer.org/) General information about cancer and about treatment
and surviving cancer.
National Cancer Institute (http://www.nci.nih.gov/) The institute within the National Institutes of Health that
specifically targets cancer and operates the Cancer Information Service (http://cis.nci.nih.gov/ ) and
CancerNET (http://www.cancernet.nci.nih.gov/ ).

CaP CURE (http://www.capcure.org/) Information about prostate cancer.

Susan G. Komen Breast Cancer Foundation (http://www.komen.org/) Information about breast cancer.

The Stanley S. Scott Cancer Center at LSU Health Sciences Center in New Orleans
(http://www.ssscc.lsuhsc.edu/) has information on local treatment and other useful information.

The University of Pennsylvania Cancer Center operates OncoLink (http://www.oncolink.upenn.edu/), which

has a lot of information about cancer.

Jay D. Hunt, III, Ph.D., is Associate Professor of Biochemistry and Molecular Biology, Stanley S. Scott Cancer
Center, LSU Health Sciences Center at New Orleans and Adjunct Associate Professor of Biochemistry, Tulane
University Health Sciences Center in New Orleans. His research involves finding the specific gene defects that lead
to cancers.


Jay D. Hunt, III, Ph.D.
LSU Health Sciences Center
Department of Biochemistry and Molecular Biology
533 Bolivar Street, CSB-4-18
New Orleans, LA 70112
(504) 568-4734


Best Answer: Because it is linked directly to the owner and proves you at some time were at a certain
place. If evidence is placed somewhere in order to frame a person of a crime it can be very difficult to
prove that person wasn't there if no other DNA evidence was found linking another person to the area.

Expanding upon what another user said, DNA sequences are unique to each individual (except in cases
of identical twins). As a result, DNA is viewed as irrefutable proof linking it to a specific person, however,
it's not entirely irrefutable. For example, in the Amanda Knox case, no one was denying that the DNA
found belonged to her.. however, there was a high possibility of contamination of the evidence due to poor
gathering on the part of the police. DNA doesn't prove a case--prosecutors still must do that, however, it
does prove a link between the crime (or at least the crime scene) to a specific individual.

Why is DNA evidence difficult to refute in court?

A. No two individuals, other than identical twins, have the same DNA.

B. DNA evidence is not easily tampered with or contaminated.

C. The presence of DNA at a crime scene proves the guilt of an individual.

D. Even with few or common genetic markers, the odds are remote that two individuals will have the same
DNA fingerprint pattern.

How DNA Evidence Works

he advent of DNA (deoxyribonucleic acid) evidence is one of the best examples

of how much technology has altered the criminal justice landscape, particularly
its use exhonerating the falsely convicted. DNA evidence technically doesn't
pinpoint a single suspect, but rather narrows it down to just a few possibilities
within the human population. However, it's extremely accurate and useful as long
as it is handled and analyzed properly.
What is DNA?
DNA is the basic building block of life. The information encoded in an organism's
DNA acts as a blueprint for the organism's biological development and
functioning. DNA exists in the cells of all living organisms, and by testing the DNA
found in a person's cell, scientists can come up with a DNA profile for that
individual. Only one-tenth of 1 percent of human DNA differs from one individual
to the next and, although estimates vary, studies suggest that forensic DNA
analysis is roughly 95 percent accurate.
The Development of Forensic DNA Evidence
DNA profiling of individuals didn't even exist, however, until the mid-1980s, when
an English scientist, Dr. Alec Jeffreys, discovered that certain areas of the DNA
strand contain patterns that repeat many times. The number of these repetitions
varies between individuals (except for identical twins, who have the exact same
DNA), and Dr. Jeffreys developed a test to measure the variation in length of
these repetitions. Using this test, Dr. Jeffreys found that he was able to identify
individuals by comparing samples of their DNA. This test that Dr. Jeffreys
developed became known as restriction fragment length polymorphism (RFLP).
RFLP is an accurate and reliable test, but it requires a relatively large amount of
DNA to work. Laboratories now use tests based on the polymerase chain
reaction(PCR) method, which allows for testing on very small amounts of DNA
from biological samples.
How DNA is Sourced and Analyzed
Investigators can collect DNA evidence from a number of different sources.
Almost any biological evidence can contain DNA, although not every sample
contains sufficient amounts of DNA to enable DNA profiling.
Forensic investigators will analyze the biological samples to get a DNA profile of
the individual(s) that the samples came from. If investigators already have
suspect(s) in mind, they can collect samples to compare to the evidence
collected at the scene. There are also databases of DNA profiles that
investigators can use to identify suspects by comparing the database information
to the DNA profile obtained from the biological evidence.
Accuracy of DNA Evidence
Assuming that investigators properly collect and handle biological evidence and
that the forensic scientists employ accepted methods and conduct the analysis
correctly, DNA evidence is extremely accurate. The chances of one individuals
DNA profile matching another persons are extremely small -- about one in a
billion by some estimates (but there is quite a bit of debate about this).
Compared to fingerprinting or eyewitness testimony, which both have inherent
flaws and inaccuracies, DNA evidence is a highly effective way to match a
suspect to biological samples collected during a criminal investigation.
Because of its accuracy, criminal lawyers increasingly rely on DNA evidence to
prove a defendants guilt or innocence. DNA evidence has also exonerated
people through postconviction analysis of biological samples. Since DNA
analysis didn't exist until recently, a reexamination of evidence collected during
older investigations can reveal that the DNA profile of the person convicted of the
crime does not match the DNA profile from biological samples collected at crime
Human Error and Admissibility
DNA evidence is not unassailable, however. Errors in the collection and/or
handling of the biological samples used for the DNA analysis can result in
the exclusion of DNA evidence at trial. Similarly, if a lab contaminates the
biological sample or is found to use unreliable methods, a judge may reject the
DNA evidence at trial.
When challenging DNA evidence, defense attorneys will usually focus on the
behavior of the investigators and forensic analysts in an attempt to cast doubt on
the results of DNA profiles, rather than attack the reliability of DNA profiling as a
whole. A well-known example of this is the defense strategy used in the O.J.
Simpson trial.
Additionally, each state has difference rules regarding evidence, and any failure
to comply with the particulars of each states requirements can result in a refusal
of the court to examine DNA evidence.
Interpreting Results of DNA Analysis
hree types of results can occur in DNA testing: inclusion, exclusion, and inconclusive results. It is
important that victim service providers, investigators, and prosecutors understand the meaning of these
terms and be able to explain their implications. While conclusive results are very reliable, DNA findings
can sometimes yield results that are difficult to interpret.

When the DNA profile of a known individual (a victim or suspect) matches the DNA profile from the crime
scene evidence, the individual is "included" as a potential source of that evidence. However, the strength
of this inclusion depends, in part, on the number of DNA locations examined (up to 13 locations can be
examined) and the statistic reflecting how often the particular profile would be found in the general
population. A DNA profile shown to occur rarely in the population (for example, 1 time in 5 million people)
would more strongly suggest that the individual is the source of the biological evidence than would a more
common DNA profile (for example, 1 time in 5,000 people). Increasing the number of DNA locations
tested typically results in more powerful statistics. For this reason, several DNA locations are tested
whenever possible.

n some cases, a DNA inclusion may provide information that is of limited value to the investigative
process. For example, results from samples taken from the victim may be consistent with the DNA of the
victim, such as vaginal evidence in sexual assault cases. In addition, if the suspect wore a condom during
the assault, was aspermatic due to a vasectomy, or did not ejaculate after the assault, additional DNA
profiles may not be obtained from the evidence. The results do not mean the suspect was not present and
did not commit the crime-only that the substance tested did not come from the suspect. Additionally,
inclusion does not necessarily mean a suspect is guilty.

When the DNA profile from an individual (a victim or suspect) does not match the DNA profile generated
from the crime scene evidence, the referenced individual is "excluded" as the donor of the evidence. In
some cases, it may be necessary to perform additional testing to establish the source of the DNA profile
in the evidence. For example, a blood sample may be requested from the husband of a sexual assault
victim to determine whether the DNA profile obtained from the vaginal swab is the result of a prior
consensual act and not the assault. Exclusion does not necessarily mean a suspect is innocent.

Inconclusive Results
Inconclusive results indicate that DNA testing did not produce information that would allow an individual to
be either included or excluded as the source of the biological evidence. Inconclusive results can occur for
many reasons. For example, even with sensitive PCR testing, the quality or quantity of DNA obtained
from the biological evidence may be insufficient to produce definitive DNA typing results. Inconclusive
results also can occur if the evidentiary sample contains a mixture of DNA from several individuals (for
example, a sample taken from a victim of a gang rape). Even if the suspect's DNA profile is found in the
biological evidence, the presence of DNA from other sources may prohibit the establishment of an
inclusive or exclusive result. If there is more than one perpetrator or if in a sexual assault case the victim
recently had consensual intercourse in which semen also may have been deposited in the victim's vaginal
region, the results could contain profiles from more than one person. When this happens, it is often not
possible to determine which specific types came from which donor. The suspect cannot be excluded as a
possible donor of the DNA found in the evidence sample, but a more conclusive result may not be
possible. These cases must be reported as inconclusive. As with all DNA results, inconclusive findings
should be interpreted in the context of the other evidence in a case.

What is the difference between

prokaryotic and eukaryotic DNA

There are many significant differences between prokaryotic and eukaryotic DNA
replication. One such difference is the complexity of the replication process of
eukaryotic cells in comparison to the relative simplicity of the replication process in
prokaryotic cells. Another huge difference is the speed at which replication takes place.

Because prokaryotic cells have a simpler structure than eukaryotic cells, the DNA
replication process for prokaryotic cells is much simpler. For one, prokaryotic cells have
no nucleus where the genetic material is found. Replication occurs in the cytoplasm of
prokaryotic cells as opposed to replication occurring in the nucleus of eukaryotic cells.

The origin of replication in prokaryotic cells is limited to one place, while there are over
1,000 origins in eukaryotic cells. In prokaryotic cells, replication occurs one point at a
time, while eukaryotic replication occurs at all these origin points simultaneously. Going
along with this, prokaryotic cells have only one replication fork while eukaryotic cells
have many replication forks. The chromosomes of prokaryotic cells have no chromatin,
which makes up the bulk of the chromosomes in eukaryotic cells.

Finally, prokaryotic replication is fast while eukaryotic replication is slow. This speed at
which prokaryotic cells replicate is seen with the rapid growth of bacteria.

Replication of DNA -- deoxyribonucleic acid occurs within a cell in preparation for cell
division to ensure that new cells receive an exact copy of the genetic material. Both
prokaryotic and eukaryotic cells utilize a similar process that includes unwinding the
DNA to expose the base sequence, assembly of complementary base nucleotides,
bonding of the new assemblage to the parent strands, and rewinding each new DNA
molecule. While there are many similarities, the replication of prokaryotes and
eukaryotes involve differences. These differences in DNA replication reflect the contrast
between prokaryotic and eukaryotic cells.

Differences between Eukaryotic and Prokaryotic

Prokaryotic cells are quite simple in structure. They have no nucleus, no organelles and
a small amount of DNA in the form of a single, circular chromosome. Eukaryotic cells on
the other hand, have a nucleus, multiple organelles and more DNA arranged in multiple,
linear chromosomes.

Steps in DNA Replication

DNA replication begins at a specific spot on the DNA molecule called the origin of
replication. At the origin, enzymes unwind the double helix making it accessible for
replication. Each strand of the helix then separates from the other, exposing the now
unpaired bases to serve as templates for new strands. A small segment of RNA --
ribonucleic acid -- is added as a primer, then new nucleotide bases that complement the
unpaired bases can be assembled to form two daughter strands next to each parent
strand. This assembly is accomplished with enzymes called DNA polymerases. When
the process is complete, two DNA molecules have been formed identical to each other
and to the parent molecule.

Sponsored link

Start Download - View PDF

Convert From Doc to PDF, PDF to Doc Simply With The Free On-line App!


Similarities between Prokaryotic and Eukaryotic

DNA Replication
The steps for DNA replication are generally the same for all prokaryotic and eukaryotic
organisms. Unwinding the DNA is accomplished by an enzyme named DNA helicase
and manufacturing new DNA strands is orchestrated by enzymes called polymerases.
Both types of organisms also follow a pattern called semi-conservative replication. In
this pattern, the individual strands of DNA are manufactured in different directions,
producing a leading and a lagging strand. Lagging strands are created by the
production of small DNA fragments called Okazaki fragments that are eventually joined
together. Both types of organisms also begin new DNA strands with a small primer of

Differences between Prokaryotic and Eukaryotic

DNA Replication
Differences between prokaryotic and eukaryotic DNA replication are largely related to
contrasts in size and complexity of the DNA and cells of these organisms. The average
eukaryotic cell has 25 times more DNA than a prokaryotic cell. In prokaryotic cells, there
is only one point of origin, replication occurs in two opposing directions at the same
time, and takes place in the cell cytoplasm. Eukaryotic cells on the other hand, have
multiple points of origin, and use unidirectional replication within the nucleus of the cell.
Prokaryotic cells possess one or two types of polymerases, whereas eukaryotes have
four or more. Replication also happens at a much faster rate in prokaryotic cells, than in
eukaryotes. Some bacteria take only 40 minutes, while animal cells such as humans
may take up to 400 hours. In addition, eukaryotes also have a distinct process for
replicating the telomeres at the ends of their chromosomes. With their circular
chromosomes, prokaryotes have no ends to synthesize. Lastly, the short replication in
prokaryotes occurs almost continuously, but eukaryotic cells only undergo DNA
replication during the S-phase of the cell cycle.

What are the differences in DNA replication

between prokaryotes and eukaryotes?
-The RNA primers in prokaryotes are actually much longer than those in eukaryotes.
-There are some additional proteins with little understood function that are present during
eukaryotic replication.
-Prokaryotes initiate replication through the binding of the DnaA protein to specific sequences at the
origin. This then triggers the melting of a downstream AT rich region through ATPase activity. This
replication bubble begins at the melted sequence. Eukaryotes have much more complex mechanisms
to initiate replication which involve many proteins and protein subunits.
-Eukaryotes have multiple origins of replication.

-There are many other differences as well. There are some interesting differences involving the
presence of telomeres in eukaryotes that I don't remember specifically, but that I would advise
looking into.
Here is an image showing a generalized simplified model of DNA replication. The mechanisms
shown here are shared between prokaryotes and eukaryotes.

DNA replication in eukaryotes (~2kb/min) is much slower than in prokaryotes (~100kb/min)

Eukaryotes tend to have shorter Okazaki fragments (about 100-200bp) than prokaryotes do (1-2kb).
The DNA polymerase in prokaryotes (specifically, bacteria) is DNA polymerase III holoenzyme,
while in eukaryotes, it is polymerase that initiates and Pols and that elongate the replication.
The primase is attached to Pol in eukaryotes, while it is separate (DnaG) in bacteria.
The DNA clamp in eukaryotes is PCNA (proliferating cell nuclear antigen), while its counterpart in
bacteria is the subunit of Pol III.
Also bacteria have single-strand binding proteins (SSB), while eukaryotes have replication factor A
(RF-A) to bind to single strand DNA.
The repair of the lagging strand in bacteria is done by DNA polymerase I and DNA ligase, while in
eukaryotes it is done by Pol , Pol and DNA ligase I.

Question no 10.

The flow of genetic information follows the "Central Dogma" of molecular biology: DNA is
copied as messenger RNA (mRNA) which in turn is the template for protein synthesis (uses
rRNA and tRNA).

DNA carries the genetic information of a cell and consists of thousands of genes. Each gene serves as a
recipe on how to build a protein molecule. Proteins perform important tasks for the cell functions or serve
as building blocks. The flow of information from the genes determines the protein composition and
thereby the functions of the cell.

The DNA is situated in the nucleus, organized into chromosomes. Every cell must contain the genetic
information and the DNA is therefore duplicated before a cell divides (replication). When proteins are
needed, the corresponding genes are transcribed into RNA (transcription). The RNA is first processed
so that non-coding parts are removed (processing) and is then transported out of the nucleus
(transport). Outside the nucleus, the proteins are built based upon the code in the RNA (translation).

The document has two levels, basic and advanced. This page is an introduction to both levels. You start
at the basic level, then you can advance if you want more and deeper information.
Genetic information is stored in DNA and can be carried from one generation to the next via
both DNA and RNA. Both DNA and RNA are long protein-based polymers that are comprised of
nucleic acids. They carry genetic information from parental cells to daughter cells within the
human body.

DNA and RNA are macromolecules that consist of many interconnected nucleic acids. Each
nucleic acid is composed of a sugar, a base and a phosphate. Sugars link together by
phosphates to create the backbone of the DNA or RNA molecule. Genetic information is carried
and stored in the sequence of nucleic acid bases along a chain of DNA or RNA. When cells
duplicate inside of the human body, DNA is replicated through RNA in order to give the new cell
a new set of DNA. When a woman conceives, the egg and sperm cells that create the fetus
carry genetic information from the parents. A baby has half of its genetic material from its mother
and half from its father. As the fetus grows, DNA is duplicated inside of the baby to allow the
baby to grow bigger and to develop. RNA is also duplicated in order to promote protein
expression and gene expression in the child. When the child grows up and has her own child,
the flow of genetic material continues.

-synthesis of RNA under the direction of DNA
-produced messenger RNA for encoding proteins
-tRNA and rRNA are involved in protein synthesis
-synthesis of a polypeptide, which occurs under the direction of mRNA
- ribosomes are the sites of translation