Genetic Introduction and Definition

Genetics is the study of how genes bring about characteristics, or traits, in living things and how
those characteristics are inherited. Genes are specific sequences of nucleotides that code for
particular proteins. Through the processes of meiosis and sexual reproduction, genes are
transmitted from one generation to the next.
Augustinian monk Gregor Mendel developed the science of genetics. Mendel performed his
experiments in the 1860s and 1870s, but the scientific community did not accept his work until
early in the twentieth century. Because the principles established by Mendel form the basis for
genetics, the science is often referred to as Mendelian genetics. It is also called classical genetics
to distinguish it from another branch of biology known as molecular genetics.

Mendel believed that factors pass from parents to their offspring, but he did not know of the
existence of DNA. Modern scientists accept that genes are composed of segments of DNA
molecules that control discrete hereditary characteristics.

Most complex organisms have cells that are diploid. Diploid cells have a double set of
chromosomes, one from each parent. For example, human cells have a double set of
chromosomes consisting of 23 pairs, or a total of 46 chromosomes. In a diploid cell, there are
two genes for each characteristic. In preparation for sexual reproduction, the diploid number of
chromosomes is reduced to a haploid number. That is, diploid cells are reduced to cells that have
a single set of chromosomes. These haploid cells are gametes, or sex cells, and they are formed
through meiosis (see Chapter 8). When gametes come together in sexual reproduction, the
diploid condition is reestablished.

The offspring of sexual reproduction obtain one gene of each type from each parent. The
different forms of a gene are called alleles. In humans, for instance, there are two alleles for
earlobe construction. One allele is for earlobes that are attached, while the other allele is for
earlobes that hang free. The type of earlobe a person has is determined by the alleles inherited
from the parents.

The set of all genes that specify an organism’s traits is known as the organism’s genome. The
genome for a human cell consists of about 20,000 genes. The gene composition of a living
organism is its genotype. For a person’s earlobe shape, the genotype may consist of two alleles
for attached earlobes, or two alleles for free earlobes, or one allele for attached earlobes and one
allele for free earlobes.

The expression of the genes is referred to as the phenotype of a living thing. If a person has
attached earlobes, the phenotype is “attached earlobes.” If the person has free earlobes, the
phenotype is “free earlobes.” Even though three genotypes for earlobe shape are possible, only
two phenotypes (attached earlobes and free earlobes) are possible.

The two paired alleles in an organism’s genotype may be identical, or they may be different. An
organism’s condition is said to be homozygous when two identical alleles are present for a
particular characteristic. In contrast, the condition is said to be heterozygous when two different
alleles are present for a particular characteristic. In a homozygous individual, the alleles express
themselves. In a heterozygous individual, the alleles may interact with one another, and in many
cases, only one allele is expressed.

When one allele expresses itself and the other does not, the one expressing itself is
the dominant allele. The “overshadowed” allele is the recessive allele. In humans, the allele for
free earlobes is the dominant allele. If this allele is present with the allele for attached earlobes,
the allele for free earlobes expresses itself, and the phenotype of the individual is “free earlobes.”
Dominant alleles always express themselves, while recessive alleles express themselves only
when two recessive alleles exist together in an individual. Thus, a person having free earlobes
can have one dominant allele or two dominant alleles, while a person having attached earlobes
must have two recessive alleles.

Common Genetics Terminologies

What is Character: A heritable feature (skin color, height etc.).
What is Trait: variant for a character (i.e. brown, black, white etc.).
What is True-breed: all offspring of same variety
Different generations of a cross can be
P generation (parents)
F1 generation (1st filial generation)
F2 generation (2nd filial generation)
Pure Cross: A cross between a true breed plant/animal with another true breeds plant/animal is
called pure cross
True breeding X True breeding
WW X ww
Hybrid Cross:
F1 generation X F1 generation
Ww X Ww
Genotype and Phenotype: Genetic make-up of an organism is called Genotype while physical
appearance of an organism is called Phenotype.
Dominant and Recessive: when one characteristic expresses itself over the other i.e. round over
wrinkled was dominant in Gregor Mendel experiments while the trait that does not show through
in the first generation is called as recessive trait i.e. wrinkled.
 Mendel’s Experiment

Mendel was the first scientist to develop a method for predicting the outcome of inheritance
patterns. He performed his work with pea plants, studying seven traits: plant height, pod shape,
pod color, seed shape, seed color, flower color, and flower location. Pea plants pollinate
themselves. Therefore, over many generations, pea plants develop individuals that are
homozygous for particular characteristics. These populations are known as pure lines.
In his work, Mendel took pure-line pea plants and cross-pollinated them with other pure-line pea
plants. He called these plants the parent generation. When Mendel crossed pure-line tall plants
with pure-line short plants, he discovered that all the plants resulting from this cross were tall. He
called this generation the F1 generation (first filial generation). Next, Mendel crossed the
offspring of the F1 generation tall plants among themselves to produce a new generation called
the F2 generation (second filial generation). Among the plants in this generation, Mendel
observed that three-fourths of the plants were tall and one-fourth of the plants were short.

Mendel’s laws of genetics

Mendel conducted similar experiments with the other pea plant traits. Over many years, he
formulated several principles that are known today as Mendel’s laws of genetics. His laws
include the following:

1. Mendel’s law of dominance: When an organism has two different alleles for a trait, one
allele dominates.
2. Mendel’s law of segregation: During gamete formation by a diploid organism, the pair of
alleles for a particular trait separate, or segregate, during the formation of gametes (as in
meiosis).
What is segregation?
Segregation is the separation of allele pairs (different traits of the same gene) during
meiosis so that they can transfer specifically to separate gametes.
A classic example is pea shape. Peas can be either round or wrinkly, but not anything in between.
Whether they are round or wrinkly is controlled by a single gene with two alleles, and the round
allele is dominant to the wrinkly allele. The inheritance pattern if you cross homozygous round
and homozygous wrinkly pea plants is illustrated here:

3. Mendel’s law of independent assortment: The members of a gene pair separate from
one another independent of the members of other gene pairs. (These separations occur in the
formation of gametes during meiosis.)
Let's look at a concrete example of the law of independent assortment. Imagine that we cross two
pure-breeding pea plants: one with yellow, round seeds (YYRR) and one with green, wrinkled
seeds (yyrr). Because each parent is homozygous, the law of segregation tells us that the gametes
made by the wrinkled, green plant all are ry, and the gametes made by the round, yellow plant
are all RY. That gives us F1 offspring that are all RrYy.
The allele specifying yellow seed color is dominant to the allele specifying green seed color, and
the allele specifying round shape is dominant to the allele specifying wrinkled shape, as shown
by the capital and lower-case letters. This means that the F1 plants are all yellow and round.
Because they are heterozygous for two genes, F1 plants are called dihybrids (di- = two, -hybrid =
heterozygous).
A cross between two dihybrids (or, equivalently, self-fertilization of a dihybrid) is known as a
dihybrid cross. When Mendel did this cross and looked at the offspring, he found that there were
four different categories of pea seeds: yellow and round, yellow and wrinkled, green and round,
and green and wrinkled. These phenotypic categories (categories defined by observable traits)
appeared in a ratio of approximately 9:3:3:1.