Module 1.GENETICS
Module 1.GENETICS
Module 1.GENETICS
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Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
1
Oscar Hertwig observed that in sea urchins, fertilization involves the union of sperm nucleus with that of
the egg. In human beings the inheritance of some diseases, so well understood today, was not known
at all until the beginning of the twentieth century. It is however thought that if Mendel’s laws had not
been formulated through studies of garden peas, they would have been discovered in the early part
of this century through studies of the inheritance of blood groups or of inborn errors of metabolism in
man.
Although Mendel published his work in 1865, it was not until 35 years later that its significance
was realized when three independent workers published similar results. Due to the vast impact which
Mendel’s work had on the discovery of later concepts, the year 1900 is considered to represent the
birth year of modern Genetics.
Mendel’s success is in part also attributed to his choice of material. The garden pea ( Pisum
sativum) used in his experiments (Fig. 1.1) offers certain advantages:
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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• it is an easily growing, naturally self-
fertilizing plant;
• it is well suited for artificial cross
pollination therefore hybridization (crossing
of two different varieties) is easily
accomplished;
• it shows pairs of contrasting characters
which do not blend to produce
intermediate types and can be traced
through successive generations without
confusion.
For example, tall and dwarf are a pair of contrasting conditions for the character height;
similarly, round and wrinkled seeds are contrasting forms for the character seed texture. On self-
pollination each character breeds true. Mendel worked with seven pairs of characters so that he had
14 pure breeding varieties.
Monohybrid Cross
Mendel crossed varieties of edible peas which
showed clearcut differences in morphological characters
(Fig. 1.2) such as color of flowers (red vs. white), shape of
pod (inflated vs. constricted), color of pod (green vs.
yellow), texture of seed (round vs. wrinkled), color of
cotyledons (yellow vs. green), flower position (axial vs.
terminal) and height of plant (tall vs. dwarf). He was dusting
the pollen of one variety on the pistil of the other. To
prevent self-pollination of the female parent , he removed
its stamens before the flowers had opened and shed the
pollen. After making the cross he would enclose the flowers
in bags to protect them from insects and foreign pollen.
Mendel’s first experiments explain how a single
gene segregates in inheritance. When Mendel crossed a
true breeding tall plant (female parent) with a true
breeding plant of the dwarf variety (male parent), he got
tall plants like one parent in the first filial generation
designated F1. He used the term ‘‘dominant’’ for the tall
character which dominated in the F1 generation, and
‘‘recessive’’ for the character of dwarfness which remained
hidden (latent) in the F1 generation. Self-fertilization of the
F1 hybrids produced the second filial generation F2
consisting of a total of 1064 plants of which 787 were tall
and 277 were dwarf. That is tall and dwarf plants
appeared in F2 in the proportion of 2.84 : 1 which is
roughly equal to 3 : 1. When he performed the reciprocal cross by reversing the sexes of the parents,
the same results were obtained showing thereby that it did not matter which plant was used as male or
as female parent. Similarly, Mendel crossed pea plants differing in other characters such as color of
flowers (red flowered versus white flowered), texture of seed (round versus wrinkled), color of cotyledons
(yellow versus green). Such a cross which involves only one character from each parent is called a
monohybrid cross. In each case Mendel found one parental character dominating in the F1 hybrid, and
after self-fertilization in F2 generation both parental characters appeared in the proportion of three-
fourths to one-fourth. He performed each experiment on several thousand plants and counted all the
plants in F2 progeny which gave an average ratio of 3:1.
Segregation of Genes: From his experiments Mendel concluded that each parent contributes
one factor for a character to the F1 hybrid. In this way the F1 hybrid has two factors for each character.
When the F1 hybrid forms gametes the two factors separate from each other. There is no mixing up of
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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factors thus emphasizing the purity of gametes. The phenomenon of separation became Mendel’s First
Principle and was later termed as the Law of Segregation. This is explained diagrammatically as follows:
Indeed, Mendel’s results of this cross agreed with the theoretical expectations thus providing
additional experimental proof of the correctness of his interpretations. Such a cross where an individual
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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is crossed to a double recessive parent to test and verify the individual’s genotype is called a testcross
or backcross.
In order to determine genotypes of the F2 progeny, Mendel allowed the F2 plants to self-fertilize
and produce a third filial or F3 generation. He found that the homozygous F2 tall plants could produce
only tall plants on self-fertilization. This indicated their genotype to be TT. Similarly, the F2 dwarf
homozygotes yielded only dwarf plants on selfing; their genotype was tt. The F 2 heterozygotes on self
fertilizing behaved identical to the F1 hybrids and gave rise to tall and dwarf phenotypes in the ratio
3:1. This proved that their genotype was identical to that of F1 hybrids i.e. Tt.
It is noteworthy that the genotypes of the parents are written as TT and tt instead of single T
and t. This is in accordance with Mendel’s hypothesis that each parent has two factors for a character.
There is also a cytological explanation. The somatic chromosomes of all plants and animals exist in
homologous pairs, one member of each pair coming from the paternal parent, other from maternal
parent. A gene is a section of the chromosomal DNA which has information necessary for determination
of a specific genetic trait. Suppose a hypothetical gene A occupies a particular site or locus on a
given chromosome. The homologous chromosome contains at the identical locus an alternative gene
a which controls the same trait as gene A, but in such a way as to produce a different phenotype for
the same trait. The alternative genes at the same locus A and a are also called alleles. It is an
astonishing fact that though Mendel knew nothing about genes, he could predict the existence of
factors, which later turned out to be genes. During the reduction division of meiosis (Metaphase I),
chromosomes of a pair separate and go to the opposite poles. Consequently, genes or alleles
segregate from each other and pass into different gametes.
Punnett Square
The value of studying genetics is in understanding how we can predict the likelihood of
inheriting particular traits. This can help plant and animal breeders in developing varieties that have
more desirable qualities. It can also help people explain and predict patterns of inheritance in family
lines. One of the easiest ways to calculate the mathematical probability of inheriting a specific trait was
invented by an early 20th century English geneticist named Reginald Punnett. His technique employs
what we now call a Punnett square. This is a simple graphical way of discovering all of the potential
combinations of genotypes that can occur in children, given the genotypes of their parents. It also
shows us the odds of each of the offspring genotypes occurring.
Setting up and using a Punnett square is quite simple once you understand how it works.
You begin by drawing a grid of perpendicular lines
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
5
Demonstration of Genetic Segregation
Mendel’s F1 hybrids (Tt) were all tall plants indistinguishable phenotypically. Sometimes
homozygous and heterozygous plants show phenotypic differences. There is a seedling character for
green pigment in soybeans. The homozygous (GG) soybean plant is dark green, the heterozygous (Gg)
plant light green. The homozygous recessive (gg) produces a golden lethal seedling which dies in early
stages due to lack of green pigment. If the heterozygous plants are grown to maturity and self-
pollinated, their progeny will again segregate as dark green, light green and lethal golden in the ratio
of 1 : 2 : 1.
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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and y, r and Y, and r and y. Therefore, gametes containing factors RY, Ry, rY and ry should form in equal
proportions.
The F1 hybrid producing the four types of gametes mentioned above was selfed. The results
expected in the F2 progeny can be predicted by making a checkerboard or a Punnett Square.
Gametes produced by one parent are plotted on top of the Punnett Square, and gametes of the
other parent on the side. The sixteen squares of the Punnett Square are filled up by making various
possible combinations of male and female gametes during fertilization. The phenotypes read out from
the Punnett Square indicate a 9 : 3 : 3 : 1 ratio exactly as observed by Mendel.
As in the case of the monohybrid cross, Mendel verified his results by performing the test cross.
He crossed the F1 hybrid heterozygous for both characters with a double recessive parent (rryy) which
should produce only one type of gamete ry. The uniformity in the gametes of the recessive parent
determines the differences in the types of gametes produced by the heterozygous parent. Now the
hybrid RrYy produces gametes carrying RY, Ry, rY and ry with equal frequency. It follows that during
fertilization if all these four types of gametes unite with ry gamete of the recessive parent, the resulting
progeny should show all the four combinations of characters also in equal proportions. Indeed, Mendel
observed the testcross progeny to consist of Round Yellow, Round Green, Wrinkled Yellow and Wrinkled
Green plants in the ratio 1 : 1 : 1 : 1.
From the results of his dihybrid crosses, Mendel realized the following facts. At the time of
gamete formation, the segregation of alleles R and r into separate gametes occurs independently of
the segregation of alleles Y and y. That is why the resulting gametes contain all possible combinations
of these alleles, i.e. RY, Ry, rY, ry. In this way Mendel proved that when two characters are considered
in a cross, there is independent assortment of genes for each character, and this became the Law of
Independent Assortment.
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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The F1 hybrid produces 8 types of gametes. These on selfing have equal chances to combine
with any of the 8 types of gametes produced by the other parent resulting in 64 different combinations.
All the dominant phenotypes are expressed. In this way it is possible to predict genotypes and
phenotypes in F2 of crosses involving more than 3 genes (multihybrid crosses). In each case number of
gametes formed by F1 heterozygote is determined by the formula 2n, where n represents the number of
characters. Thus, in a trihybrid cross 23 = 8 gametes result. In a cross involving 4 characters, 24 = 2 ×
2 × 2 × 2 = 16 gametes must result. The number of F2 phenotypes resulting from selfing F1 hybrid is a
square of the number of gametes. Thus, in a trihybrid cross there are 8 × 8 = 64 phenotypes, in a
tetrahybrid cross 16 × 16 = 144 phenotypes, and so on.
The experiments of Mendel laid the foundations of our knowledge of heredity. After seven years
of detailed investigations he formulated his Principles and presented them at two meetings of the
Natural History Society of Brunn in 1865. His results were published in the Annual Proceedings of the
Society in 1866, which was distributed in the libraries of Europe and America the same year. But,
unfortunately, nobody paid attention to this work and it remained unrecognized for 34 years. It was only
in 1900 that three scientists—Correns in Germany, DeVries in Holland and Tschermak in Austria
independently rediscovered the same principles of heredity, and the significance of Mendel’s work was
realized.
MODULE ASSESSMENT
Instruction: Provide what is required in the items below. Write your answers on your drawing book. For the
items that require problem solving, present all your solutions/calculations and put your final answer inside
a box.
1. Create your own timeline on the history of genetics. Include the year (up to the most recent),
the important discovery/findings, and the scientists/researchers who made such discovery.
Answer the following questions:
a. Name two plant breeders of the 18th century who knew those hybridization techniques
which Mendel had used in his experiments. Why did they not succeed as Mendel did?
b. Why was it difficult for Mendel to convince the scientific community on his findings
about the Pisum sativum?
c. The person who coined the term “Genetics” is not Gregor Mendel, why is Mendel
considered as the Father of Genetics?
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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3. Use Punnett square to predict offspring of the following problems.
a. Perform the crosses below involving one homozygous dominant parent. Identify the
genotypic and phenotypic ratio of the offspring in each cross.
AA x AA AA x Aa AA x aa
b. Perform the crosses below involving one heterozygous parent. Identify the genotypic
and phenotypic ratio of the offspring in each cross.
AA x Aa Aa x Aa Aa x aa
A A A
c. Perform the crosses below involving one recessive parent. Identify the genotypic
and phenotypic ratio of the offspring in each cross.
AA x aa Aa x aa aa x aa
4. Answer the following Mendelian Genetics problems below involving monohybrid crosses. Set
up the Punnett squares for each of the crosses. Then write a conclusion that will answer the
question.
a. A heterozygous round seeded plant is crossed with a homozygous round seeded
plant. What percentage of the offspring will be homozygous round seeded?
b. In dogs, black fur is dominant over yellow fur. A homozygous black dog is mated with
a yellow dog. What percentage of their offspring will have a yellow fur?
c. When a pure breeding brown cat is mated to a pure breeding white cat, all the
kittens born are brown. What results would you expect when an F1 brown kitten is
mated with
i. a pure breeding white cat;
ii. another F1 brown kitten;
iii. a pure breeding brown cat.
d. In man brown eyes (B) are dominant over blue (b). A brown eyed man married to a
brown eyed woman has a blue eyed child. What would be the genotypes of the
parents?
5. Dihybrid cross. Answer the following Mendelian Genetics problems below involving dihybrid
crosses. Set up the Punnett squares for each of the crosses. Then write a conclusion that will
answer the question.
a. A female guinea pig is heterozygous for both fur color and coat texture is crossed
with a male that has light fur color and is heterozygous for coat texture. What possible
offspring can they produce? Write the genotypic and phenotypic ration of the
offspring. (Dark fur color is dominant (D) and light fur (d) is recessive. Rough coat
texture (R) is dominant, while smooth coat (r) is recessive)
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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b. In sweet peas yellow seed coat (Y) is dominant over green (y), and round seed shape
(R) is dominant over wrinkled (r). What phenotypic ratios would be obtained in F1
progeny of the following crosses:
i. YyRR × YYRr
ii. yyRr × YyRr
iii. Yyrr × yyrr
iv. YyRr × yyRR
Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
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