Module 1.GENETICS

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MODULE 1

The Pre-Mendelian Era and Mendelism

M an ’s curiosity to
know
transmission
about

hereditary characters is as
of

old as humanity itself. From the


earliest times it had been
noticed that the offspring
may resemble their parents,
grandparents, or other
relations. Around 300 BC the
great Aristotle had observed
that peculiarities of hair, nails
and even gait may reappear
in offspring, that characters
not visible in an individual
may also be inherited. It
https://descomplica.com.br/artigo/primeira-lei-de-mendel-e-
heredograma-a-base-necessaria-para-entender-genetica/4lT/
appears that the existence
of heredity was taken for
granted. Yet, the rules which govern transmission of characters were not understood. Explanations were
sought everywhere, even in the prevailing beliefs of the time such as magic, witchcraft, gods and folklore.
Many considered heredity to be some sort of a blending process, because of which the
offspring showed different ‘‘dilutions’’ of the parental characteristics. The concept of blending
inheritance fitted well with ancient thinking as it could explain why some children were more like their
parents whereas others were less. As far back as 400 BC an ancient Greek writer suggested the role of
environment in producing variations in inheritance. The idea appears similar to the ‘‘Theory of acquired
characteristics’’ proposed by Lamarck twenty-two centuries later.
The earliest indications about the material basis of heredity came from plant breeding
procedures practiced by farmers who were aware of various techniques of hybridization and selection
for developing new varieties. In the middle of the eighteenth-century Carolus Linnaeus (1707–1778) a
Swedish taxonomist, and two German plant breeders Josef Gottlieb Kölreuter (1733–1806) and Karl
Friedrich Von Gaertner (1722–1850) performed artificial cross pollinations in plants and obtained
hybrid offspring. In 1760 Kölreuter published a book in which he described 500 plant hybridization
experiments. Although his observations were similar to those of Mendel, he was not able to interpret
them correctly. For example, in the cross between Nicotiana rustica and N. paniculata he could not
understand the vigorous and sterile nature of the hybrid offspring. Gaertner carried out similar
experiments on garden peas, the very material which Mendel studied successfully a few decades later.
In crosses of maize plants Gaertner found that if one parent has red kernels the other yellow, the hybrids
were all of the yellow type. When these hybrids were self-fertilized the second generation showed
roughly three yellow to one red plant—identical to the 3:1 ratio found later by Mendel.
It was about the same time, in the first quarter of the nineteenth century that three British
botanists, Knight, Seton and Goss were also experimenting with inheritance of seed color in garden
peas. They observed that a cross between plants with yellow seeds and green seeds produced all
yellow seeded plants in the first generation. On self-fertilization they obtained second generation
offspring with both yellow and green seeds. Plants with green seeds on self-fertilization produced only
green seeded offspring showing that green seed color always breeds true.
The works of all the plant hybridizers were studied and analyzed in detail by Mendel. It is
noteworthy that most of the important concepts of Genetics emerged on the basis of classical
experiments done on plants. Among animals, efforts of scientists were focused on the study of mode of
sexual reproduction. Spallanzani in 1785 obtained offspring from artificial insemination of dogs. In 1875

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.

Lesson 1 – Mendel and the Birth of Mendelism


One of the peasant families settled in the Czech
village of Heinzendorf, then part of Austria, maintained a
farm where developing new varieties of apples was their
main occupation. In this family was born Gregor Johann
Mendel in 1822. Mendel grew up in this farm environment
and finished high school at the age of eighteen. Thereafter
he tried to become a tutor at the college in Ölmutz but
did not succeed. Perhaps due to this failure, or due to lack
of money, he returned to his family farm where he spent one
year. After that he did fi nd work as a tutor, but it seems he
could not settle down comfortably due to combined
pressures of studying, teaching and some financial
problems. He therefore left Ölmutz (now Brno in
Czechoslovakia). He started off as a substitute teacher
and in 1848 was ordained as a parish priest. In 1851
Mendel entered the University of Vienna for training in
physics, mathematics and natural sciences. It was at Vienna
that Mendel was influenced by two scientists, Franz Unger
a plant physiologist, and Christian Doppler, discoverer of
https://www.moralesbiology.com/genetics.html the well-known Doppler effect in physics. Perhaps Mendel
picked up knowledge here about Kölreuter’s and Gaertner’s hybridization experiments which formed
part of Unger’s teaching courses. It also seems likely that Mendel sharpened his mathematical awareness
through Doppler’s influence on him. After completing his studies at Vienna he returned to Brunn in
Moravia, Czechoslovakia in 1854 where he continued to work as priest and as a teacher in high school.

Lesson 2 – Mendel’s Experiments


In 1856 Mendel began his experiments on plant hybridization with garden peas in the
monastery garden. Although similar work had already been done by contemporary botanists, the
significant features of all these experiments had been overlooked because the investigators made
overall observations of all inherited characters instead of collecting and analyzing data in a systematic,
mathematical way. This is how Mendel achieved what his predecessors could not.
1. He concentrated his attention on a single character in his experiments on inheritance.
2. He kept accurate pedigree records for each plant.
3. He counted the different kinds of plants resulting from each cross.
4. He analyzed his data mathematically.

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
2
• 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
3
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:

Terms Used in Mendel’s Crosses


Dominant versus Recessive: When two pure breeding varieties are crossed, the parental
character that expresses itself unchanged in the F1 generation hybrids is dominant: the one that does
not appear in F1 but appears in F2 is called recessive. In the above cross three- fourths of the F2
progeny show the dominant character and one-fourth the recessive character.
Alleles: Factors which control contrasting expressions of a character are said to be alleles or
allelomorphs of each other. In the above cross the character in consideration is height, and factors T
and t which control tallness and dwarfness are alleles of each other.
Homozygous and Heterozygous: These terms were coined by Bateson and Saunders in 1902.
Mendel had concluded that each character is controlled by a pair of factors. When both factors are
identical such as TT and tt, the individual is said to be homozygous or purebred for that character.
When the factors are different (for example Tt), the term heterozygous or hybrid is used. Mendel used
capital letter of the alphabet to denote dominant factors, and small letters for recessive alleles.
Genotype and Phenotype: Mendel’s factors were later replaced by the term ‘gene’ by a
Danish botanist Johannsen in 1909. The word genotype refers to the genetic constitution of an
individual, whereas phenotype refers to the external appearance or manifestation of a character.
Mendel selfed members of the F2 progeny and found that out of the dominant types, one-third
bred true for the dominant character, whereas two-thirds segregated into dominants and recessives in
the ratio of 3:1. All the recessive plants of F2 generation when selfed bred true for the recessive
character. Mendel found similar results in monohybrid crosses with all the seven pairs of contrasting
characters in Pisum sativum. After eight years of detailed investigations on thousands of pea plants,
Mendel published his results in a paper entitled ‘‘Experiments in Plant Hybridisation’’ in the Proceedings
of the Brunn Natural History Society in 1866. However, his work received no attention for 34 years until
three scientists, DeVries in Holland, Correns in Germany and Tschermak in Austria working independently
published their findings in 1900 and confirmed Mendel’s results.
The Test Cross: Not satisfied with his work, Mendel himself subjected his results to a test. In the
cross between tall and dwarf pea plants, the F1 hybrids were all phenotypically tall but their genotypes
were not only TT but also Tt. Consider a heterozygous hybrid plant Tt. When it forms gametes, the factors
T and t segregate in the gametes in a 1:1 ratio. This means that 50% of the gametes of an F1
heterozygous hybrid carry the factor T and 50% the factor t. Mendel crossed such a hybrid plant (Tt)
with a plant of the true breeding, dwarf variety (tt). All the gametes of the homozygous dwarf plant
carried the recessive factor t. Every gamete of the recessive parent has 50% chance of combining with
a gamete carrying T and 50% chance to combine with a t gamete from the heterozygous parent. This
should result in 50% of progeny
showing the tall phenotype and genetic constitution Tt, whereas 50% of the progeny should be
phenotypically dwarf with genotype tt as explained diagrammatically below:

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
4
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

Next, you put the genotype of one parent across


the top and that of the other parent down the left
side. For example, if parent pea plant genotypes
were YY and GG respectively, the setup would be
Note that only one letter goes in each box for the
parents. It does not matter which parent is on the
side or the top of the Punnett square.
Next, all you have to do is fill in the boxes by
copying the row and column-head letters across or
down into the empty squares. This gives us the
predicted frequency of all of the potential
genotypes among the offspring each time
reproduction occurs.
In this example, 100% of the offspring will likely be heterozygous with the genotype - YG. Since the
Y (yellow) allele is dominant over the G (green) allele for pea plants, 100% of the YG offspring will
have a yellow phenotype, as Mendel observed in his breeding experiments.
https://www2.palomar.edu/anthro/mendel/mendel_2.htm

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.

Differences between homozygous and heterozygous genotypes can sometimes be observed


in the gametes. In rice, sorghum and maize, effect of the gene for waxy endosperm is visible in the pollen
grains. Maize kernels which have waxy endosperm produce starch and stain blue with iodine; nonwaxy
endo sperm does not produce starch and stains red with iodine. In maize gene for waxy endosperm is
located on chromosome 9. A homozygous plant with
genetic constitution WxWx produces starch in
endosperm and stains blue with iodine. In the
heterozygous plant (Wx wx) the dominant gene causes
starch production and the kernels stain blue with iodine.
But kernels on homozygous recessive plants (wx wx)
have no starch and stain red with iodine. If anthers of
these plants are treated with iodine, the pollen grains
stain in a similar way. In homozygous plants all the pollen
https://www.southernbiological.com/ grains stain blue. In heterozygous plants 50% of pollen
corn-genetics/
grains stain blue (i.e. those containing Wx), whereas 50%
stain red (i.e. pollen grains having wx). In the homozygous recessive plant, all the pollen grains stain red.
If breeding tests are done by self-pollinating the heterozygous F1 plants, the F2 progeny consists of
blue staining kernels (WxWx and Wxwx plants) and red staining kernels (wxwx plants) in the ratio 3 : 1.

The Dihybrid Cross


Mendel made crosses between pea plants differing in two characters such as texture of seed
and color of cotyledons. Such a cross in which inheritance of two characters is considered is called a
dihybrid cross.
First of all, Mendel crossed a pea plant that was breeding true for round seeds with a plant
that bred true for wrinkled seeds. The F1 indicated that roundness was dominant over wrinkled texture of
seedcoat. Similarly, by another cross he could determine that yellow color of cotyledons was dominant
over green. He now used as male parent a plant which bred true for both round and yellow characters
and crossed it with a female parent that bred true for wrinkled green. As expected from the results of his
single crosses, the F1 was round yellow. When he selfed the F1 hybrids, the F2 progeny showed all the
parental characters in different combinations with each other. Thus plants with round yellow seeds, round
green seeds, wrinkled yellow seeds and wrinkled green seeds all appeared in the ratio 9 : 3 : 3 : 1.
Reciprocal cross in which the female parent was round yellow and male parent wrinkled green gave
the same results.
Mendel applied the principle of a monohybrid cross and argued that in the dihybrid cross the
true breeding round yellow parent must be homozygous RRYY, and the wrinkled green parent rryy. Since
each character is determined be two factors, in a dihybrid cross there must be four factors present in
each parent. Likewise, the F1 hybrid must be RrYy. But the question remained as to how did the four
different combinations of parental phenotypes appear in the progeny? Mendel argued that the pair
of factors for roundness must be behaving independently of the pair of factors for yellow color of seeds.
In other words, one factor for a character must be passing independently of a factor for another
character. Thus, in the F1 hybrids, R and r pass into different gametes. Now the probability of an R
gamete formed is one-half, and of r gamete also one-half. Similar probabilities exist for Y and y gametes.
It follows that the probability that R and Y should go to the same gamete is one-fourth, as also of R

Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
6
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.

Trihybrid and Multihybrid Crosses


Mendel extended his observations to trihybrid crosses involving three pairs of contrasting
characters. The characters he considered were: seed shape—smooth (S) vs. wrinkled (s); color of
cotyledons—yellow (Y) vs. green (y); and flower color—violet (V) vs. white (v).

Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
7
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?

2. Identifying traits and alleles. Follow the instruction per item.


a. For each genotype below, indicate whether it is heterozygous (He) or homozygous (Ho).
AA _____ Ee _____ Ii _____ Mm _____
Bb _____ ff ______ Jj _____ nn ______
Cc _____ GG _____ kk _____ OO _____
Dd _____ HH _____ Ll _____ Pp ______
b. For each of the genotypes below determine what phenotypes would be possible.
Red flowers are dominant to white Short stems are recessive to long
RR _____________ LL ___________
Rr _____________ Ll ____________
rr ______________ ll _____________
c. Round seeds are dominant to wrinkled Curly hairs are recessive to straight
RR ______________ SS ____________
Rr ______________ Ss ____________
rr _______________ ss _____________
d. For each phenotype below, list the genotypes (remember to use the letter of the
dominant trait).
Green pods are dominant to yellow pods Tail spikes are dominant to plain tails
_____ green _____spikes
_____ green _____spikes
_____ yellow _____plain

Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
8
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
9
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

c. In humans there is a disease called Phenylketonuria (PKU)which is caused by a


recessive allele. People with this allele have a defective enzyme and cannot break
down the amino acid phenylalanine. This disease can result in mental retardation or
death. Let “E” represent the normal enzyme. Also in humans in a condition called
galactose intolerance or galactosemia, which is also caused by a recessive allele.
Let “G” represent the normal allele for galactose digestion. In both diseases, normal
dominates over recessive. If two adults were heterozygous for both traits (EeGg),
what are the chances of having a child that is completely normal? Has just PKU? Has
just galactosemia? Has both diseases?

Lecture notes are adopted from the book of Ahluwalia, K. 2009. Genetics, 2nd edition and the book of Weaver, R. 2001. Molecular Biology
10

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