MENDELIAN GENETICS

Prepared by Maria Danica C. De Villa

VOCABULARY
GENE a unit of heredity; a section of DNA sequence encoding a single protein
GENOME the entire set of genes in an organism
GENOTYPE - the genetic constitution of an individual organism.
PHENOTYPE - the set of observable characteristics of an individual resulting from the
interaction of its genotype with the environment.
ALLELE - one of two or more alternative forms of a gene that arise by mutation and are found
at the same place on a chromosome.
HOMOZYGOUS having identical genes (one from each parent) for a particular characteristic.
HETEROZYGOUS having two different genes for a particular characteristic.
DOMINANT the allele of a gene that masks or suppresses the expression of an alternate
allele; the trait appears in the heterozygous condition.
RECESSIVE an allele that is masked by a dominant allele; does not appear in the
heterozygous condition, only in homozygous.
MONOHYBRID CROSS - a genetic cross involving a single pair of genes (one trait); parents
differ by a single trait.
DIHYBRID CROSS genetic cross that involve parents that differ in two genes (two
independent traits)
INTRODUCTION
For thousands of years farmers and herders have been selectively breeding their plants and
animals to produce more useful hybrids It was somewhat of a hit or miss process since the
actual mechanisms governing inheritance were unknown. Knowledge of these genetic
mechanisms finally came as a result of careful laboratory breeding experiments carried out over
the last century and a half.
By the 1890's, the invention of better microscopes allowed biologists to discover the basic facts
of cell division and sexual reproduction. The focus of genetics research then shifted to
understanding what really happens in the transmission of hereditary traits from parents to
children. A number of hypotheses were suggested to explain heredity, but Gregor Mendel, a
Central European monk, was the only one who got it more or less right. His ideas had been
published in 1866 but largely went unrecognized until 1900, which was long after his death.

GREGOR JOHANN MENDEL (July 20, 1822 - January 6, 1884)

Austrian Monk, born in what is now Czech

Republic in 1822
Son of peasant farmer
Studied theology and was ordained priest Order
St. Augustine.
Went to the University of Vienna, where he
studied botany and learned the Scientific
Method.

Mendel was the first biologist to use Mathematics to explain his

results quantitatively.
Mendel predicted

The concept of genes

That genes occur in pairs
That one gene of each pair is present in the gametes
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MENDELS PEAS
Mendel looked at seven traits or characteristics of pea plants:

Mendel's Laws are as follows:

1. The Law of Dominance
2. The Law of Segregation
3. The Law of Independent Assortment

Law of Dominance
This law states that one from the pair of alleles coding for a particular trait would be expressed
whereas the other is unexpressed. The allele expressed for a particular trait is regarded as
the dominant whereas the other (which is unexpressed) is considered recessive.
While Mendel was crossing two pea plants (pure tall and pure short), all the new pea plants
(referred to as F1 generation) were tall. Similarly, crossing pure yellow seeded pea plants and
pure green seeded pea plants produced an F1 generation of all yellow seeded pea plants.The
same was true for other pea traits:

Parent Pea Plants

tall stem x short stem
yellow seeds x green seeds
green pea pods x yellow pea

F1 Pea Plants
all tall stems
all yellow seeds
all green pea

pods
round seeds x wrinkled seeds
axial flowers x terminal flowers

pods
all round seeds
all axial flowers

Law of Segregation
When gametes are formed, the pairs of hereditary factors (genes) become separated, so that
each sex cell (egg/sperm) receives only one kind of gene.

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When Mendel crossed two F1 generation pea plants (both tall), this resulted to F2 generation
pea plants which were 3/4 tall and 1/4 short.
He concluded that parent plants, each with one tall factor that dominated the short factor causes
them to grow tall. To get short plants from these parents, the tall and short factors must
separate; otherwise a plant with just short factors couldnt be produced. The factors must
segregate themselves somewhere between the production of sex cells and fertilization.

Parent Pea Plants

Offspring

(Two Members of F1

(F2 Generation)

Generation)
Genotypes:
Phenotypes:
Tt x Tt

Genotypes:

Phenotypes:

25% TT

75% tall

50% Tt

25% short

tall x tall

25% tt
Law of Independent Assortment
According to this law, different pairs of alleles are passed to offspring independently of each
other. The result is that new combinations of genes present in neither parent are possible.
Mendel noticed during his work that the height of the plant, the shape of the seeds, and the
color of the pods had no impact on one another. In other words, being tall did not automatically
mean the plants had to have green pods, nor did green pods have to be filled only with wrinkled
seeds. The different traits seem to be inherited independently; it involves a dihybrid cross
parents are hybrid for two different traits.
The genotypes of the parent pea plants will be:

RrGg x RrGg
where
R = dominant allele for round seeds
r = recessive allele for wrinkled seeds
G = dominant allele for green pods
g = recessive allele for yellow pods
RG
Rg
RRGG
RRGg
Round - Green
Round - Green
RRGg
RRgg
Rg
Round - Green
Round - Yellow
RrGG
RrGg
rG
Round - Green
Round - Green
RrGg
Rrgg
rg
Round - Green
Round - Yellow
The results from a dihybrid cross are as follows:
R
G

rG
RrGG
Round - Green
RrGg
Round - Green
rrGG
Wrinkled - Green
rrGg
Wrinkled - Green

rg
RrGg
Round - Green
Rrgg
Round - Yellow
rrGg
Wrinkled - Green
Rrgg
Wrinkled - Yellow

9/16 of the offspring show a dominant phenotypes for both traits ROUND and GREEN,

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3/16 show a dominant phenotype for the first trait and recessive for the second
ROUND and YELLOW,
3/16 show recessive phenotype for first trait and dominant for the second WRINKLED
and GREEN, and
1/16 show recessive for both traits WRINKLED and YELLOW.

Mendels Principles of Heredity apply universally to all organisms.

Cystic Fibrosis - a lethal genetic disease affecting Caucasians. CF disease affects transport in
tissues mucus is accumulated in lungs, causing infections.
If two parents carry the recessive gene of Cystic Fibrosis (c), that is, they are heterozygous (C
c), one in four of their children is expected to be homozygous for CF and have the disease:
where
CC = normal
Cc = carrier
cc = has CF

CC

Cc

Cc

cc

Gaucher Disease - is a rare, genetic disease. It causes lipid-storage disorder (lipids

accumulate in spleen, liver, bone marrow).
It is the most common genetic disease affecting Jewish people of Eastern European ancestry (1
in 500 incidence; rest of pop. 1 in 100,000)

Beyond Mendelian Genetics: Incomplete Dominance

Incomplete dominance is a form of intermediate inheritance in which one allele for a specific trait
is not completely expressed over its paired allele. This results in a third phenotype in which the
expressed physical trait is a combination of the dominant and recessive phenotypes.

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Incomplete dominance is seen in crosspollination experiments between red and

white snapdragon plants. The allele that
produces

the

red

color (R) is

not

completely expressed over the recessive

allele that produces the white color (r).
The

resulting

offspring

are

pink.

The genotypes are: (RR) Red, (rr) White,

and (Rr) Pink.
Another example is, a child with wavy hair
as a result of one parent's curly hair and the other's straight hair.
Pleiotropic Traits
During his study of inheritance in pea plants, Gregor Mendel made several interesting
observations regarding the color of various plant components. Specifically, Mendel noticed that
plants with colored seed coats always had colored flowers and colored leaf axils. (Axils are the
parts of the plant that attach leaves to stems.) Mendel also observed that pea plants with
colorless seed coats always had white flowers and no pigmentation on their axils. In other
words, in Mendel's pea plants, seed coat color was always associated with specific flower and
axil colors.
Today, we know that Mendel's observations were the result of pleiotropy, or the phenomenon in
which a single gene contributes to multiple phenotypic traits. In this case, the seed coat color
gene was not only responsible for seed coat color, but also for flower and axil pigmentation
(Fairbanks & Rytting, 2001).
One of the most widely cited examples of pleiotropy in humans is phenylketonuria (PKU). This
disorder is caused by a deficiency of the enzyme phenylalanine hydroxylase, which is
necessary to convert the essential amino acid phenylalanine to tyrosine. A defect in the single
gene that codes for this enzyme therefore results in the multiple phenotypes associated with
PKU, including mental retardation, eczema, and pigment defects that make affected individuals
lighter skinned (Paul, 2000).
Polygenic Traits
A polygenic trait is one whose phenotype is influenced by more than one gene. Traits that
display a continuous distribution, such as height or skin color, are polygenic. The inheritance of
polygenic traits does not show the phenotypic ratios characteristic of Mendelian inheritance,
though each of the genes contributing to the trait is inherited as described by Gregor Mendel.
Many polygenic traits are also influenced by the environment and are called multifactorial or
quantitative traits.
Polygenic trait characteristics:

Are recognized by the expressions they possess that occur from continuous
variation gradation
Rather than counting, are quantified through measuring the variation
Do not follow the phenomenon known as Mendel's patterns of inheritance
Are additive effects of at least two separate pairs of genes that control the
continuous variation
A result of contributing pairs of genes is a varying wider range of phenotypic
expression

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CONCLUSION
Gregor Mendels work was an enormous contribution to the world of science. His work has
stood the test of time, even as the discovery and understanding of chromosomes and genes
has developed in the 140 years after he published his findings.
SUMMARY
When two parent organisms look different for a trait, and all their offspring resemble only one of
the parents, this reflects Mendels law of dominance. All the offspring are heterozygous for the
trait, one parent is homozygous dominant, and the other is homozygous recessive.
When two parents have the same phenotype for a trait but some of their offspring look different
with respect to that trait, the parents must be hybrid for that trait Mendels law of segregation.
Different traits do not influence the inheritance of each other. They are inherited independently
Mendels law of Independent Assortment.

References:

Fairbanks, D. J., & Rytting, B. (2001). Mendelian controversies: A botanical and historical
review. American Journal of Botany 88, 737752
Paul, D. (2000). A double-edged sword. Nature 405, 515.doi:10.1038/35014676
O'Neil, D (2013). Mendels Genetics. Retrieved from website:
http://anthro.palomar.edu/mendel/mendel_1.htm
Starr, C., & Taggart, R. (2004).Biology: The unity and diversity of life 10th ed. Singapore.
Thompson Learning Asia.
Stern, K. (1997). Introductory plant biology 8th ed. Botany Visual Resource Library. New
York. The McGraw Hill Companies Inc.

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