So in the last unit we studied about chemical basis of life.

Now just Focus for a moment on

biologys subject, life. All living things on earth are characterized by cellular organization,
growth, reproduction, homeostasis and heredity. These characteristics define the term life.

Then what is inheritance? Inheritance is something you possess from your ancestor and carried
along, it may be any asset, money or anything but when we connect with the life what we will
take from our parental generation and give it to our successors is INHERITANCE IN LIFE.
Life had amazing property of transformations. It could transmit information to the next
generation. It reproduced itself faithfully. Plant the mango, get a mango. Not a Banana, Bees
give bees and birds give birds. And even more than that, not just the things giving the same
species, but within a species you can see the strong resemblances. If we take human beings -
Particular types of noses or the height of the individual will be difference, It would transmit in a
family. So people knew somehow there was something very important about the information that
was transmitted, which brings familial resemblance. So for thousands of years, people wondered
about familial resemblance. Folks being folks would make up explanations for it. Information
was combined from both parents and blended in offspring, known as Heredity. Heredity is the
transmission of characteristics from parent to offspring. We have puzzled our heredity
since before works were written down. It is important to know that for 200 or more years, people
were just completely confused about this concepts.

The road to Mendel: Early ideas of heredity

Our understanding of heredity starts with a series of European farmers, who were trying to
improve varieties of agricultural plants for economic and trade purpose. They carried out
matings called crosses between individual plants and selecting the desirable offspring of the
each cross. Little progress in solving the puzzle was made, however, until Gregor Mendel
conducted some simple but significant experiments in his monastery garden a century ago. What
emerged from this obscure garden was the key to understand the heredity.

Gregor Johann Mendel cultivating his plants in the garden, which was located in Brno,
Czechoslovakia. Mendel studied how differences between varieties of peas were inherited when
the varieties were crossed with one another.

Mendels Experiments:

The history of modern genetics dates back to the middle of the nineteenth century, when Gregor
Johann Mendel (1822-1884). An Austrian Monk, performed quantitative studies of inheritance.
He carried out his breeding or crossing experiments on the garden pea and published his results
in the journal Transactions of the Natural History society of Brunn Mendel presented
completely new theory of inheritance in this journal. Though it was a well-documented work, it
did not attract wide attention until after his death. His work was rediscovered in 1900,
simultaneously by Hugo de Vries in Holland, Carl Correns in Germany and Erich Tschermak in
Austria. All three readily gave to Mendel the credit that was due to him.
 Mendel is often referred to as Father of Genetics, because of his contribution to an understanding
of some of the basic principles of heredity. His experiments still serve as an excellent examples
for the simpler hereditary patterns. These principles collectively form Mendelian genetics

Mendel picked peas for good reasons. Peas didn't take up that much space in the monastery
garden. And peas have other features where the fertilizing organs are enclosed in a kind of closed
keel. They self-fertilize, usually. And there's no risk that pollen from some other plant is going to
get in there. You can open it up and put pollen in. But it's an ideal plant for doing genetics
because we don't randomly get much cross-pollination.

He's got pod color, pea color, the shape, whether they're inflated pea pods or constricted pea
pods. He's got whether the flowers are purple or white, whether the flowers are at the top or
along the middle there, the stem length. These are seven traits that he studies intensely in his
peas. And he shows that they all transmit completely faithfully when you just self-breed the
particular strain.
Mendel presented completely new theory of inheritance and followed certain criteria for his
breeding experiments:
1. Selection of distinctive characters (tall X dwarf, round X wrinkled, green X yellow etc.)
2. Selection of true breeding varieties ( that would show the same characters in the same way in the
offspring in succeeding generations)
3. Controlled fertilization

Monohybrid cross

In monohybrid cross Mendel selected one character for his experiment (single pair of contrasting
character), he made crosses between purple and white flower plants. The plant with which,
Mendel started his experiments known as parental generation.
All the offspring obtained by purple flower plant and white flower parental cross over resulting
in purple flower. The offspring were called hybrids and considered as F1 first filial generation.
Then F1 plants were allowed for self-fertilization. The plants produced by self-fertilization of F1
generation are taken as belongings of F2 that is second felial generation. The F2 generation
included both purple and white flower plants, there were no plants of intermediate colour or
blended in any of the generation. F2 generation is important because the reappearance of white
flower, which was disappear in F1. The ratio of the purple and white flower plant in F2
generation was 3:1

Purple X white flower

F1 generation (purple)

Self-fertilization

purple (3) white(1)

Principal of dominance is only one of the two contrasting character will appear or expressed. In
monohybrid cross F1 generation showed only one type of plants that is purple flowers and
named as dominant and other one is called as recessive. Purple was dominant in F1 generation.

But Mendel does one more thing, He counted. He didn't just observe qualitatively. He just dint
stop, he did it again. He actually did it for seven different traits. He got this 3 to 1 ratio.
 Allels do not blend in heterozygotes. When gametes are formed in heterozygous diploid
individuals, the alleles segregate from one another. Each gametes has an equal probability of
possessing either member of an allele pair.

Observation and interpretation of the monohybrid cross

The hybrid offspring always resembled one of the parents, did not have an intermediate flower
color.

The first filial generation F1 plants all had purple flowers.

Mendel referred to the trait expressed in the F1 plants as dominant and to the alternative trait,
which was not expressed in the F1 as recessive.

The plants obtained from self-pollination of F1 generation exhibited the recessive trait (second
filial F2 generation).

Mendel counted the numbers of each type among the F2 progeny, Amongst the 929 total F2
individuals 705 had purple flower and 224 had white flowers.
 3/4th of the F2 individuals exhibited the dominant trait and 1/4th displayed the recessive trait. The
ratio of dominant torecessive among the F2 plants was always 3:1

The study of F2 plants in later generation he found that the one quarter that were recessive were
always true breeding. Where 1\3rd of the dominant F2 were true breeding.

The genotype ratio 1:2:1 is the really distinguished with true-breeding dominant, not true-
breeding and one quarter true-breeding.
For each pair of traits that Mendel examined, one alternative was not expressed in the F1 hybrids
although it reappeared in the F2
In the pairs of alternative traits one trait must have been latent in the F1generation.
He concluded that the traits segregate among the progeny of a particular cross, and some plants
express one trait some exhibit other.

Law of segregation/Law of purity of gametes:

It states that whenever a pair of factors for character brought together in a hybrid, they segregate
during the formation of gametes. Hence each gamete is pure with reference to this character.

(Mendel was not having any idea of chromosomes or genes. However he used the term Pair of
factor or unit factors for the word we use gene)

In monohybrid cross F1 was having both the unit factors purple and white flower, but purple
color factor was dominant over dwarf factor. Dwarf being recessive factor could not express.

To explain this according to Mendels scheme the parental plant of pure breed with identical
factors are denoted as PP for purple flower and pp for dwarf.

The hybrid obtained in first generation was (Pp) having both the factors. The zygote produced by
parental generation can have only (Pp) hence the offspring obtained were of only Purple, because
on P (purple factor) can express itself p does not produce any effect as P is dominant over p.

Mendel proposed a simple model of terminologies containing simple assumptions and making
clear predictions.

1. Parents do not transmit their physiological traits or form directly to their offspring. Rather, they
transmit distinct information about the traits, mendel called factors.
2. In diploid organisms, with respect to each trait or parent, contains two factors, which may or
may not be the same. If the factors are different the individual is said to be heterozygous for
that characteristic. If they are the same the individual is homozygous.
3. The alternative forms of a factor, leading to alternative character traits are called alleles.
4. The two alleles, one contributed by the male and one by the female gamete. Allels do not blend
with one another or altered in any other way. When the individual matures, produces its own
 gametes, these gametes include equal proportions of the elements that the individual received
from its two parents.
5. In heterozygous individuals one allele achieves expression which is dominant the other allele is
present but unexpressed is recessive.
6. The physical appearance of an individual is its phenotype and the allels that an individual
contains as its genotype.

Test cross and Back cross:

A cross involving the F1 individuals with either of the two parents is called back cross. A back
cross between the F1 hybrid and dominant parental type will produces only dominant individuals
the cross between F1 and recessive parental type both the phenotypes appear in the progeny
50:50%. The cross between F1 and recessive parent is called test cross (PpX pp).

All the test crosses are back cross but all the back crosses are not a test cross. Only the cross with
the recessive parental type is test cross. Test cross helps to test whether the individual is
homozygous or heterozygous. Test cross produces 2 types of offspring 50% of them would
show the dominant and other 50%would show the recessive.

Dihybrid cross

Mendel derived the law of segregation from experiments in which he followed only a single
character, such as flower colour. He did his second experiment following two characters at the
same time seed colour and seed shape dihybrid cross.

Mendel crossed a pea plant producing Round yellow seeds with one producing green and
wrinkled seeds of pure breed variety.
In F1 generation plants obtained producing only round yellow seeds
F1 were allowed for self-pollination to get F2 generation.
In F2 generation, 4 different types of plants were produced that is a) Round yellow b) Round
green c) wrinkled yellow d) wrinkled green.
Phenotype ratio of 4 types of plants were 9:3:3:1

Round, Yellow X Wrinkled, Green

Round, Yellow (F1 generation)

Self-fertilization

Round Yellow(9), Round Green(3), Wrinkled Yellow(3), Wrinkled

Green(1)
Law of independent assortment:

The factors for two or more pairs of contrasting characters are distributed independently of one
another at the time of gamete formation. Eg: The individual factors for rounded and wrinkled
nature of the seeds and their yellow and green appeared in different combinations.

Parental plants contain identical factors for each character. Round(R), wrinkled(r),Yellow(Y),
green(g), then the parents plants contain RRYY and rryy. Thus parent of homozygous for both
the factors

Assessment of dihybrid cross F2 generation by Punnet square

At the time of the formation of gametes, each parent produces gametes of only one type RY and
ry ( according to the law of segregation).
The F1 offspring will all be of one variety only with Round and Yellow genotype will be RrYy.
It is called dihybrid because it is a hybrid for two characters, it is heterozygous for both genes.

Dihybrid test cross:

A dihybrid test cross involves crossing of the F1 dihybrid with a double recessive parental type.
RrYy (F1) X rryy (P)
 RY Ry rY ry
ry RrYy Rryy rrYy rryy
Round Round Wrinkled Wrinkled
Yellow Green Yellow Green

Genotype and Phenotype ratio is 1:1:1:1

Patterns of inheritance

Mendel explained inheritance in terms of discrete factors genes that are passed along from
generation to generation according to the rules of probability. Mendels laws are valid for all
sexually reproducing organisms, including garden peas and human beings. However Mendels
law stop short of explaining some patterns of genetic inheritance. For most sexually reproducing
organisms, cases where Mendels laws can strictly account for the patterns of inheritance are
relatively rare and often the inheritance patterns are more complex.

The offspring of Mendels pea crosses always looked like one of the two parental varieties. This
is Complete dominance the dominant allele had the some phenotypic effect whether present in
one or two copies.

Mendelian inheritance and its physical basis in chromosomal behavior

Gregor Mendels hereditary factors were purely an abstract concept when he proposed their
existence in 1860. At that time, no cellular structures were known that could house these
imaginary units. Even after chromosomes were first observed, many biologists remained
skeptical about Mendels laws of segregation and independent assortment until there was
sufficient evidence that these principles of heredity had a physical basis in chromosomal
behavior.
Today, we know that genesMendels factorsare located along chromosomes. We
can see the location of a particular gene by tagging chromosomes with a fluorescent dye that
highlights that gene. Using improved techniques of microscopy, cytologists worked out the
process of mitosis in 1875 and meiosis in the 1890s.

Cell division
The ability of organisms to produce more of their own kind is the one characteristic of all living
things. The continuity of life is based on the reproduction of cells or cell division. Cell division
plays several important roles in life. The division of one prokaryotic cell reproduces an entire
organism. The same is true of a unicellular eukaryote. Cell division also enables multicellular
eukaryotes to develop from a single cell, like the fertilized egg that gave rise to the two-celled
embryo and after it is fully grown organism, cell division continues to function in renewal and
repair, replacing cells that die from normal wear and tear or accidents.
 The cell division process is an integral part of the cell cycle, the life of a cell from the
time it is first formed from a dividing parent cell until its own division into two daughter cells.
Passing identical genetic material to cellular offspring is a crucial function of cell division. There
are two types of cell division Mitosis and meiosis. Mitosis produces 2 diploid (2n) daughter cells
which are genetically identical to the parent cells. Meiosis produses 4 each haploid (n)
containing half as many chromosomes as the parent cell; genetically different from the parent
cell and from each other.
 All though chromosomes were discovered more than a century ago, the exact number of
chromosomes that human possess was not established accurately until 1956. After the
development of appropriate techniques to determine accurate number, shape and form of
chromosomes were studied. The number of chromosomes present in the various species were
 determine Human beings normally have 46 chromosomes in their somatic cells, Pisum sativum a
pea plant contains 14, Drosophila having 8 chromosomes.
Conventionally, the 23 different kinds of human chromosomes are arranged into seven
groups, each characterized by a different size, shape and appearance (A-G). Of 23 pairs, 22 are
perfectly matched in both males and females and are called autosomes. The remaining pair is
called the sex chromosomes (X & Y). Two unlike members in males (XY); in females, it
consists of two similar members (XX).

Summary of Key concepts

Mendels quantitative approach to the monohybrid and dihybrid experiments.

Scientific approach to identify Mendels two laws of inheritance.
Mendels genetic vocabulary.
Degree of dominance.
Mendel inheritance basis for Cell division

Chromosomal inheritance

In the early years of century it was not obvious that chromosomes were the vehicles for the
information of heredity. The German scientist Carl Correns first suggested a central role for
chromosomes in 1900 in one of the papers announcing the rediscovery of Mendels work. Soon
after, observations that similar chromosomes paired with one another in the process of meiosis
led directly to the chromosomal theory of inheritance.

Cytology and genetics converged when biologists began to see parallels between the behavior of
chromosomes and the behavior of Mendels proposed hereditary factors during sexual life
cycles. Chromosomes present in pairs in diploid cells; homologous chromosomes separate
and alleles segregate during the process of meiosis and fertilization restores the paired
condition for chromosomes. These parallels noted independently by Walter S Sutton and
Theodor Boveri in 1902.

According to this theory,

1. Reproduction involves the initial union of only two cells, egg and sperm. If Mendels model is
correct, then these two gametes must make equal hereditary contributions. Sperm, however,
contain little cytoplasm. Therefore the hereditary material must reside within the nuclei of
the gametes.
2. Chromosomes segregate during meiosis in a fashion similar to that exhibited by the alleles
Mendel studied.
3. Gametes have a copy of one member of each pair of homologous chromosomes; diploid
individuals have a copy of both members of the pair. Similarly, Mendel found that gametes
have one allele of a gene and that diploid individuals have two.
4. During meiosis, each pair of homologous chromosomes orients on the metaphase plate
independently of any other pair. This independent assortment of chromosomes is a process
similar to the independent assortment of alleles that Mendel studied.
5. Mendelian genes have specific loci/positions along chromosomes and it is the chromosomes
that undergo segregation and independent assortment.

The proof that the genes were located on chromosomes was provided by single small fly.

Morgans experimental evidence

In 1910 the American geneticist Thomas Hunt Morgan, studying the fly Drosophila
melanogaster, detected a mutant fly, a male fly that differed strikingly from normal flies of the
same species. In this fly, the eyes were white instead of the normal red.
Morgan immediately set out to determine if this new trait would be inherited in a Mendelian
fashion. He first crossed the mutant male to a normal female to see if either red or white eyes
were dominant. All F1 progeny had red eyes and Morgan therefore concluded that red eye color
was dominant over white. Following the experimental procedure that Mendel had established
long ago, Then he crossed flies from the F1 generation with each other. Eye color did indeed
segregate among the F2 progeny as predicted by Mendels theory with an imperfect 3:1 ratio.
Something was strange about Morgans result, that was totally unpredicted by Mendels
experiments is all the white-eyed F2 flies were males.
Perhaps it was not possible to be a white-eyed female fly; to test this idea, Morgan test-
crossed one of the red-eyed F1 female progeny back to the original white-eyed male, he obtained
white-eyed and red eyed males and females. So a female could have white eyes. Why then were
there no white-eyed females among the progeny of the original
cross?
To solution to this puzzle proved to involve sex. In
Drosophila the sex of an individual is influenced by the number
of copies of a particular chromosome, the X chromosome that an
individual possesses. An individual with two X chromosomes is a
female. An individual with only one X chromosomes which pairs
with a large, dissimilar partner called Y chromosome is a male.
Thus female thus produces only X gametes, whereas the male
produces both X and Y gametes. When fertilization involves an
X sperm the result is an XX zygote, which develops into a
female. When fertilization involves a Y sperm, the result XY
zygote, which develops into a male.
 The solution to Morgans puzzle lies in the fact that in Drosophila white eye trait resides
on the X chromosome and it is absent from the Y chromosome. Now we know that the Y
chromosome carries almost no functional genes. The trait that is determined by a factor on the X
chromosome is said to be sex linked or X-linked. Knowing that white-eye trait is recessive to the
red-eye trait, we can now see that Morgans result was a natural consequence of the Mendelian
assortment of chromosomes.

When Biologists studying pea plants and Drosophila established that patterns of heredity
reflect the segregation of chromosomes in meiosis, their discovery opened the door to the study
of human heredity.

X Linked inheritance
Conventionally, the 23 different kinds of human chromosomes are arranged into
seven groups, each characterized by a different size, shape and appearance (A-G). Of 23 pairs,
22 are perfectly matched in both males and females and are called autosomes. The remaining
pair is called the sex chromosomes (X & Y). Two unlike members in males (XY); in females, it
consists of two similar members (XX).
Morgans discovery of a white eyed trait that correlated with the sex of flies was a key
episode in the development of the chromosome theory of inheritance. Because, two members of
the pair of sex chromosomes could be correlate with the behavior of the two alleles of the gene.
The gene located on either sex chromosome is called a sex linked gene those located on Y-
chromosomes are called Y-linked gene, there are very few Y linked genes. Whereas X
chromosome contain approximately >1000 genes, which are called X-linked genes.
Morgans experiment is one of the most important in the history of genetics, because it
presented the first clear evidence that Sutton was right and that the factors (gene) determining
mendelian traits do indeed reside on the chromosomes. The segregation of the white-eye trait,
evident in the eye color of the flies, has a one-to-one correspondence with the segregation of the
X chromosome, evident from the sexes of the flies. The white-eye trait behaves exactly as if it
were located on an X-chromosomes. The gene that specifies eye color in Drosophila is carried
through meiosis as part of an X chromosome. In other works, Mendelian traits such as eye colour
in Drosophila assort independently because chromosomes do. Thus Morgans results led to the
general acceptance of Suttons chromosomal theory of inheritance.

Thus, a typically Mendelian trait, white-eye, is associated with an unambiguously

chromosomal trait, sex. This result provided the first firm experimental confirmation of the
chromosomal theory of inheritance. This association of a visible trait that exhibited Mendelian
segregation with the sex chromosome (sex linkage) was the first case in which a specific
Mendelian gene could be said to reside on a specific chromosome. It firmly established the
fusion of the Mendelian and chromosomal theories, marking the beginning of modern genetics.

X linked genes in humans follow the same pattern of inheritance that Morgan observed for the
eye-color locus he studied in Drosophila. Fathers pass X-linked alleles to all of their daughters
but to none of their sons. In contrast mothers can pass X-linked alleles to both sons and
daughters.

If an X-linked trait is due to a recessive allele, a female will express the phenotype only if she is
homozygous for that allele. Because males have only on locus the term hemizygous is used. Any
male receiving the recessive allele from his mother will express the trait, for this reason more
males than females have X-linked recessive disorder.

Recombination of linked genes: crossing over

From the independent assortment of chromosomes revealed that the traits that do not match those
of either parent for e.g.: the cross between a pea plant with yellow-round seeds that is
heterozygous for both seed color and seed shape (a dihybrid YyRr) and a plant with green-
wrinkled seeds homozygous for both recessive alleles (test cross) 1:1:1:1 half of the offspring are
called parental types and another with new combinations of seed shape and color are called
recombinant type with 50% frequency of recombination.

If we consider Morgans Drosophila testcross result offspring from the testcross for body
color and wing size most of the offspring (>50%) had parental phenotypes and about 17% of
offspring were recombinants. This suggested that the two genes were on the same chromosome.

With these results, Morgan proposed that some process must occasionally break the
physical connection between specific alleles of genes on the same chromosome. And this process
is called crossing over which accounts for the recombination of linked genes.
When replicating the homologous chromosomes are paired during prophase of meiosis I,
an exchange of end portions of two nonsister chromatids takes places leading to crossover.
Figure shows how crossing over in a dihybrid female fly resulted in recombinant eggs and
ultimately recombinant offspring in Morgans testcross. Most of the eggs had a chromosome
with either the b_ vg_ or b vg parental genotype for body color and wing size, but some eggs had
a recombinant chromosome (b_ vg or b vg_). Fertilization of these various classes of eggs by
homozygous recessive sperm (b vg) produced an offspring population in which 17% exhibited a
non-parental, recombinant phenotype, reflecting combinations of alleles not seen before in either
P generation parent.

Summary of Key concepts

Mendelian inheritance in the behavior of chromosomes

Morgans experimental evidence for the scientific inquiry of chromosomal inheritance
Chromosomal basis of sex and Unique pattern of sex-linked inheritance
Recombination of unlinked and linked genes.

Genetic disorders

Genetic disorder

The large-scale chromosomal changes can affect an organisms phenotype. Physical and
chemical disturbances, as well as errors during meiosis, can damage chromosomes in major ways
or alter their number in a cell. The phenotype of an organism can also be affected by small- scale
changes involving individual genes. Random mutations are the source of all new alleles, which
can lead to new phenotypic traits.
These chromosomal or genetic alterations in humans and other mammals often lead to
spontaneous abortion of a fetus and individuals born with these types of genetic defects
commonly exhibit various developmental disorders. Plant may tolerate such genetic defects
better than animals do.
Among all living people, some individuals possess one allele of a particular gene, others
another. However most individuals possess the same allele as other people at each of most of
their genes; most variant alleles are rare and only a few occur frequently in human population.
Alternative alleles may lead to the production of proteins that do not junction properly. When a
detrimental allele occurs at a significant frequency in human populations the harmful effect that
it produces is called a genetic disorder.

Abnormal chromosomal numbers

The meiotic spindle distributes chromosomes to daughter cells without error, but there is
an occasional mishap called a nondisjunction, in which the members of a pair of homologous
chromosomes do not move apart properly during meiosis I or sister chromatids fail to separate
during meiosis II. In these cases, one gamete receives two of the same type of chromosome and
another gamete receives no copy. The other chromosomes are usually distributed normally. If
either of the aberrant gametes unites with a normal one at fertilization, the zygote will also have
an abnormal number of a particular chromosome known as aneuploidy. Fertilization involving a
gamete that has no copy of a particular chromosome will lead to a missing chromosome in the
zygote (2n-1) is said to be monosomic, if chromosome is present in triplicate then it is trisomic.
Some organisms have more than two complete chromosome sets in all somatic cells this is called
as polyploidy(triploidy 3n, tetraploidy 4n) This is fairly common in the plant kingdom.
Abnormal chromosome number and structure are associated with a number of serious
human disorders. Although the frequency of aneuploid zygotes may be quite high in humans,
most of these chromosomal alterations are so disastrous to development that the affected
embryos are spontaneously aborted long before birth. However, some types of aneuploidy appear
to upset the genetic balance less than others, with the result that individuals with certain
aneuploidy conditions can survive to birth and beyond. These individuals have a set of traits a
syndrome. This can be diagnosed before birth by fetal testing.

Down syndrome
Down syndrome is one such aneuploidy condition result of an extra chromosome 21, is often
called trisomy 21, so that body cells has a total of 47 chromosomes. This developmental defect
produced by trisomy 21 was first described in 1866 by J. Langdon Down, thus it is called down
syndrome. It affects approximately one out of every 750 children born.
Syndrome includes characteristic facial features, short stature, heart defects and developmental
delays with increased chance of developing leukemia and alzheimers disease, athrosclerosis,
stroke and many types of solid tumors.
They are sexually under developed and sterile. The frequency of down syndrome increases with
the age of the mother.
Aneuploidy of sex chromosomes
A non dis junction of sex chromosomes produces a variety of aneuploidy conditions. This may
be because extra copies of the X chromosome. An extra X chromosome in a male producing
XXY, occurs approximately once in every 500 to 100 live male births. People with this disorder
called Kleinfelter syndrome. About 1 0f every 1000 males is born with an extra Y chromosome
(XYY) they undergo with normal sexual development and they do not exhibit any well-defined
syndrome, but they tend to be taller than average. Female with trisomy XXX which occurs
approximately 1000 live female births are healthy without any unusual features being slightly
taller than average. Monosomy X called Turner syndrome, occurs about once in every 2,500
births. XO individuals are sterile because their sex organs will not mature.

Alterations in chromosome structure

Many deletions and translocations in human chromosomes cause severe problems. Eg:
Cri du chat (Cry of the cat), results from a specific deletion in chromosome 5. Child born with
this deletion is severely intellectually disabled, has a small head with unusual featuresand has a
cry that sounds like the mewing of a distressed cat, such individuals usually die in infancy or
early childhood. Chromosomal translocations have been implicated in certain cancers, including
chronic myelogenous leukemia (CML). This disease occurs when a reciprocal translocation
happens during mitosis of cells. In these cells the exchange of a large portion of chromosome 22
with a small fragment from a tip of chromosome 9 produces a much shortened, easily recognized
chromosome 22, called the Philadelphia chromosome.
Patterns of inheritance
To study heredity in humans, biologists look at the results of crosses that have already been
made- they study family histories called pedigrees. By studying relatives exhibit which traits, is
often possible to determine whether the gene producing the trait is sex linked or autosomal and if
the traits phenotype is dominant or recessive. In many cases it is also possible to infer the
individuals are homozygous for the specific allele.
Many traits in human beings exhibit dominant or recessive inheritance in a manner
similar to the traits Mendel studied in peas. Albinism for example is rare recessive condition that
is characterized by the complete absence of the pigment melanin. Lists of a few of the many
human traits that are known to be inherited as recessive or dominant alleles have been given
below.
Pedigree analysis

Peas are convenient subjects for genetic research, but humans are not. The human generation
span is longabout 20 yearsand human parents produce many fewer offspring than peas and
most other species In spite of ethical constraints, the study of human genetics continues, spurred
on by our desire to understand our own inheritance. New molecular biological techniques have
led to many breakthrough discoveries, but basic Mendelism endures as the foundation of human
genetics.
Geneticists collecting information about a familys history for a particular trait and
assembling this information into a family tree describing the traits of parents and children across
the generationsthe family pedigree.

Pedigrees are a more serious matter when the alleles in question cause disabling or deadly
diseases instead of innocuous human variations such as hairline or earlobe configuration.
However, for disorders inherited as simple Mendelian traits, the same techniques of pedigree
analysis apply.
 Some important genetic disorder

Disorder Symptom Defect Pattern of Frequency

inheritance among
human
births

Cystic fibrosis Mucus Failure of Recessive 1/1800

clogging chloride ion
lungs,liver transport
and pancreas mechanism
Albinism Lack of Lack of melanin Recessive 1/30000
melanin pigmentation
pigmentation
Sickle cell anemia Poor blood Abnormal Recessive 1/1600
circulation hemoglobin
molecules
Tay-sachs disease Deterioration Defective form Recessive 1/1600
of central of
nervous hexosaminidase
system while A
person is
young
Phenylketonuria Failure of Defective form Recessive 1/18000
barin to of enzyme
develop in phenylalninehy
infants droxylase
Huntingtons disease Deterioration Production of Dominant 1/10000
of brain cell an inhibitor of
in middle age brain cell
metabolism
Hypercholesterolemia Excessive Abnormal form Dominant 1/500
cholesterol in of cholesterol
blood leading cell-surface
to heart receptor
disease
Hemophilia Failure of Defective form Sex linked 1/7000
blood to clot of blood recessive
clotting factor
IX
Muscular dystrophy Wasting away Degradation of Sex-linked 1/10000
(duchenne) of muscles myelin coating recessive
of nerves
stimulating
muscles
Summary of Key concepts

Alterations of chromosome structure and number cause genetic disorder

Aneuploidy of sex chromosomes

Human disorder due to chromosomal alterations

Pattern of inheritance