Genetics

Definition
Genetics is a branch of biology concerned with the study
of genes, genetic variation, and heredity in organisms.
Heredity: The passage of traits from one generation to another.
Terminology for genetic crosses
phenotype – appearance or characteristic of an organism

genotype – genetic makeup of an organism, determines phenotype

genotypes are either homozygous or heterozygous

 homozygous – the homologous chromosomes have the same allele at
the locus or have 2 identical alleles for a trait. Ex. TT or tt True-breeding
pea plants are homozygous.
 heterozygous – the homologous chromosomes have different alleles
at the locus or have 2 different alleles for a trait. Ex. Tt Hybrid plants are
heterozygous.
6. gene – unit of heredity; controls a trait that determines a phenotype
7. locus – the location of a particular gene on a chromosome
8. alleles – alternative versions of a gene
9. dominant – allele that dominates over others in determining
phenotype. capital letter, first letter of trait is used ex. Tall= T
10. recessive – allele whose phenotypic expression is “hidden” when a
dominant allele is present. Recessive traits are expressed when the
dominant allele not present. Two alleles are needed for the recessive trait
to be expressed. (lower case letter) Ex from pea plants- short allele is
recessive (t). Only tt plants are short.
11. hybrid – offspring from a cross between two “pure” lines of
different, competing phenotypes.
12. true-breeding plant - A true-breeding organism, sometimes also
called a purebred, is an organism is referred to as true breeding for each
trait to which this applies. In Mendelian genetics, this means that an
organism must be homozygous for every trait for which it is considered
true breeding. A true-breeding plant will always produce offspring with
that trait when they self-pollinate.

Gregor Mendel (Father of Genetics)

Gregor Johann Mendel was an Austrian monk and was a scientist who is
recognized as the Father and Founder of genetics. Mendel conducted
many experiments on the pea plant (Pisum sativum) between 1856 and
1863. He studied the results of the experiments and deducted many
observations. Gregor Mendel developed the principles of inheritance by
performing experiments on pea plants

Why pea plants?

Mendel selected pea plant due to following reasons:
i. Easy to Cultivate: Pea plant (Pisum sativum) was easy to cultivate. It
grew well in his garden.
ii. Hermaphrodite: Its flowers were hermaphrodite I.e. pea plant have
both male and female sexual organs.

iii. Cross-fertilization (Cross-Pollination) Easily Controlled: It was

normally self-fertilizing (self-pollinating) that is the fertilization of by
their own pollen perm rather than that of another individual, but
could also be cross fertilized (cross-pollinated) that is the transfer of
pollen grains from an anther of a flower of one plant to a stigma of a
flower of another plant of the same species.

iv. Short Generation Time: As the time gap between generations was
short, Mendel could raise many generations of pea within a short time.
v. Many Distinct Traits: Pea had many sharply distinct. Its each trait
had two clear cut alternative forms or varieties: e.g. seed shape had a
round or wrinkled phenotype, plant height was either tall or short, seed
color could be yellow or green etc. Mendel called them pair of
contrasting traits. He focused on seven such contrasting pair of traits.
`

Mendel's First Experiment

Mendel began his studies by growing plants that were true-breeding for
a particular trait. For example, a true-breeding plant with yellow seeds
will always have offspring that have yellow seeds. In his first
experiment, Mendel cross-pollinated two true-breeding plants of
contrasting traits, such as purple and white flowered plants.
 The true-breeding parent plants are referred to as the P
generation (parental generation).
The hybrid offspring of the P generation are called
the F1 generation (filial generation).
The hybrid offspring of the F1 generation are called the F2 generation
(filial generation).

1. Principle of Dominance:
This is the first law. It states that when there are 2 different alleles in a
cell, one will mask the effect of the other. This is the dominant gene,
while the gene whose effect is masked is known as the recessive gene.
In the F1 generation of the monohybrid cross, the plants had Pp alleles,
but were still purple in color. Traits are alphabetically depicted by the
first letter of the dominant allele.

2. Monohybrid Crosses or Mendel's First Law

Monohybrid cross - A monohybrid cross is the study of the inheritance

of one characteristic (eg. AA x aa).
The Law of Segregation states that a pair of alleles is separated, or
segregated, during the formation of gametes (during meiosis) and
randomly unit at fertilization.
Law of Segregation: When gametes form, alleles are separated so that
each gamete carries only one allele for each gene

Mendel's Conclusions

The law of segregation is based on four main concepts:

 Genes exist in more than one form or allele.

 Organisms inherit two alleles (one from each parent)
during sexual reproduction.
 These alleles separate during meiosis, leaving each gamete with
one allele for a single trait.
  Heterozygous alleles exhibit complete dominance as one allele
is dominant and the other recessive.

Gregor Mendel was an Austrian monk who developed the principles of

inheritance by performing experiments on pea plants
 First, he crossed different varieties of purebred pea plants, then collected
and grew the seeds to determine their characteristics
 Next, he crossed the offspring with each other (self-fertilization) and
grew their seeds to similarly determine their characteristics
 These crosses were performed many times to establish reliable data
trends (over 5,000 crosses were performed)
As a result of these experiments, Mendel discovered the following
things:
1. When he crossed two different purebred varieties together the results
were not a blend – only one feature would be expressed
 E.g. When purebred tall and short pea plants were crossed, all offspring
developed into tall growing plants
2. When Mendel self-fertilised the offspring, the resulting progeny
expressed the two different traits in a ratio of ~ 3:1
 E.g. When the tall growing progeny were crossed, tall and short pea
plants were produced in a ratio of ~ 3:1
Conclusions
From these findings, Mendel drew the following conclusions:
 Organisms have discrete factors that determine its features
(these ‘factors’ are now recognised as genes)
 Furthermore, organisms possess two versions of each factor
(these ‘versions’ are now recognised as alleles)
 Each gamete contains only one version of each factor (sex cells are
now recognised to be haploid)
 Parents contribute equally to the inheritance of offspring as a result
of the fusion between randomly selected egg and sperm
 For each factor, one version is dominant over another and will be
completely expressed if present

On basis of Mendel’s conclusions, certain rules can be established:

3. Law of Independent Assortment:
This law states that during the formation of the gamete or reproductive
cell, the genes will segregate, without any mixing or blending of their
effects. This was based on Mendel’s second observation. In all the
generations, there was no mixing of the flower colors; they were either
white or purple.
Mendel's Independent Assortment Experiment
Mendel performed dihybrid crosses in plants that were true-breeding for
two traits. For example, a plant that had round seeds and yellow seed
color was cross-pollinated with a plant that had wrinkled seeds and
green seed color.
In this cross, the traits for round seed shape (RR) and yellow seed
color (YY) are dominant. Wrinkled seed shape (rr) and green seed
color (yy) are recessive.
The resulting offspring (or F1 generation) were all heterozygous for
round seed shape and yellow seeds (RrYy). This means that
the dominant traits of round seed shape and yellow color completely
masked the recessive traits in the F1 generation.
Mendel performed dihybrid crosses in plants that were true-breeding for
two traits. A Punnett square (seen in Figure 1) can be used to understand
these dihybrid crosses. For example, a pure breeding plant that had
round seeds and yellow seed color was cross-pollinated with a
pure breeding plant that had wrinkled seeds and green seed color.
In this cross, the traits for round seed shape (RR) and yellow seed
color (YY) are dominant. Wrinkled seed shape (rr) and green seed
color (yy) are recessive.
The resulting offspring (or F1 generation) were all heterozygous for
round seed shape and yellow seeds (RrYy). This means that
the dominant traits of round seed shape and yellow color completely
masked the recessive traits in the F1 generation.
The F2 Generation: After observing the results of the dihybrid cross,
Mendel allowed all of the F1 plants to self-pollinate. He referred to these
offspring as the F2 generation. Arranging these gametes along the top
and left of a 4 × 4 Punnett square gives us 16 equally likely genotypic
combinations.
Mendel noticed a 9:3:3:1 ratio in the phenotypes. About 9/16 of the F2
plants had round, yellow seeds; 3/16 had round, green seeds; 3/16 had
wrinkled, yellow seeds; and 1/16 had wrinkled, green seeds.
From these experiments, Mendel formulated what is now known as
Mendel's law of independent assortment. This law states that allele pairs
separate independently during the formation of gametes. Therefore,
traits are transmitted to offspring independently of one another.
Mendel's law of independent assortment

Mendel's law of independent assortment states at the time of

gamete formation, the two (or more) different genes segregate
independently of one another as well as of other traits. That the alleles of
two genes get sorted into gametes independently of one another.

In other words, the allele a gamete receives for one gene does not
influence the allele received for another gene.

Law of independent assortment emphasizes that there are separate genes

for separate traits and characters and they influence and sort themselves
independently of the other genes.

This law states that when two traits come together in one hybrid pair, the
two characters do not mix with each other and are independent of each
other. Each gamete receives one of the two alleles during meiosis of the
chromosome.
Law of Independent Assortment

Question 1,

One summer, you decide to become an UROP student for a professor

who studies the genetics of corn, Zea mays. When you cross the
following a true-breeding strain of corn with purpled, smooth kernels to
a true-breeding strain of corn with yellow, wrinkled kernels you find that
the F1 progeny all have purple, smooth kernels. You then cross two F1
progeny and see the following in the F2 generation.

Kernel color is encoded by gene A, where A is associated with the

dominant phenotype and a is associated with the recessive phenotype.
Similarly, kernel texture is encoded by gene B, where B is associated
with the dominant phenotype and b is associated with the recessive
phenotype

P0 Phenotype AABB aabb

P0 Genotypes** Purple, Smooth Kernels Yellow, Wrinkled Kernels F1

Phenotype AaBb F2 Genotype** Purple, Smooth Kernels F2
Phenotypes* # of F2 Progeny Yellow, Wrinkled Kernels 56,251 Yellow,
Smooth Kernels 167,879 Purple, Smooth Kernels 508,746 Purple,
Wrinkled Kernels 170,435 F2 Genotypes** aabb (1) aaBb, aaBB (3)
AaBb, AABB, AaBB, AABb (9) Aabb, AAbb (3)

i) Does the pattern above indicate a Mendelian method of inheritance

for the traits of kernel color and kernel texture? Explain.

The pattern above corroborates with a Mendelian mode of inheritance:

(1) The breeding of two true breeding strains results in a single F1

progeny indicating that the purple kernel and the smooth kernel traits
each correspond to dominant phenotypes, whereas the yellow kernel and
the wrinkled kernel traits correspond to recessive traits.

(2) In the F2 generation, we find that the kernel color gene and the
kernel texture gene are unlinked, or likely to be on different
chromosomes. These F2 progeny are the result of segregation of alleles
and independent assortment during meiosis.
ii) Describe the four different possible scenarios from your cross above.
Indicate phenotypes and genotypes.

(1) AaBb aabb

(2) AABb aabb
(3) AaBB aabb
(4) AABb aabb

(1) AaBb aabb (3) AaBB aabb _ AaBb (purple, smooth) _ AaBb (purple,
smooth) _ Aabb (purple, wrinkled) _ aaBb (yellow, smooth) _ aaBb
(yellow, smooth) _ aabb (yellow, wrinkled) (2) AABb aabb (4)AABb
aabb _ AaBb (purple, smooth) _ AaBb (purple, smooth) _ Aabb (purple,
wrinkled) _ Aabb (yellow, wrinkled) Question 2