Genetics terminology encompasses key concepts and definitions

essential for understanding heredity, genetic variation, and the

molecular basis of life.
Key Terms in Genetics
1. Allele: Different forms of a gene that can exist at a specific locus on a
chromosome. For example, the gene for blood type has multiple alleles
(A, B, O).

2. Gene: A segment of DNA that contains the instructions for building

proteins, which determine traits in an organism.
3. Genotype: The genetic makeup of an individual, represented by the
alleles they possess for a particular gene.
4. Phenotype: The observable physical or biochemical characteristics of
an organism, determined by both genetic and environmental factors.

5. Homozygous: An individual with two identical alleles for a specific gene

(e.g., AA or aa).
6. Heterozygous: An individual with two different alleles for a specific
gene (e.g., Aa).

7. Dominant Allele: An allele that expresses its trait even when only one
copy is present (heterozygous condition).
8. Recessive Allele: An allele that only expresses its trait when two copies
are present (homozygous condition).

9. Mutation: A change in the DNA sequence of a gene, which can lead to

variations in traits and may cause genetic disorders.
10. Chromosome: Structures within cells that contain DNA; humans
typically have 46 chromosomes arranged in 23 pairs.
11. Gamete: A haploid reproductive cell (sperm or egg) that carries
half the genetic information of an organism.

12. Zygote: The diploid cell formed when two gametes unite during
fertilization.
 13. Genetic Variation: Differences in DNA sequences among
individuals, which contribute to diversity in traits within a population.

14. Epigenetics: The study of changes in gene expression that do not

involve alterations to the underlying DNA sequence.

Mendel’s Postulates and Laws of

Inheritance (With Diagram) |
Botany
The Mendel’s four postulates and laws of inheritance are: (1) Principles of Paired
Factors (2) Principle of Dominance(3) Law of Segregation or Law of Purity of
Gametes (Mendel’s First Law of Inheritance) and (4) Law of Independent
Assortment (Mendel’s Second Law of Inheritance).

Mendel laid the foundation of the science of genetics through the discovery of
basic principles of hereditary. He conducted his experiments with garden pea
(Pisum sativum) for over seven years (1856-1864) and advocated four postulates,
including two important laws of inheritance.

Postulate-I. Principles of Paired Factors:

A character is represented in an organism (diploid) by at least two factors. The two
factors lie on the two homologous chromosomes at the same locus. They may
represent the same (homologous, e.g., TT in case of pure tall pea plants) or
alternate expression (heterozygous, e.g., Tt in case of hybrid tall pea plants) of the
same character. Factors representing the alternate or same form of a character are
called alleles or allelomorphs.

Postulate II. Principle of Dominance:

“When two homozygous individuals with one or more sets of contrasting
characters are crossed, the characters which appear in the hybrids of F 1 generation
are always the dominant characters and those do not appear in F1 offspring’s are
always the recessive characters”.
During the course of investigations of the principles of inheritance, Mendel crossed
plants of a variety of Pisum sativum six feet tall with plants of a variety one foot in
height on an average, (i.e., parents or P generation). When the seeds from this cross
were planted they produced plants not intermediate between the two parents, as
might be expected, but all tall, like the six-foot parent (Fig. 5.1).

Mendel made crosses to study the inheritance of six other sets of characters (given
below) and observed that in every case the hybrid resembled one of the parents
with respect to the character. It follows then that one factor or gene in a pair masks
or inhibits the expression of the other. Thus, in the cross described, the tall factor
masks, or inhibits the expression of the dwarf factor in the F 1 (first filial
generation); therefore, the tall factor is called the dominant factor, and the dwarf
factor is referred to as the recessive factor, or gene.
ADVERTISEMENTS:

Other six sets of characters that Mendel studied and classified as dominant
and recessive were as follows:
(1) Round form of seeds dominant over wrinkled.

(2) Yellow colour of cotyledons dominant over green.

(3) Axillary position of flower dominant over terminal position.

(4) Green colour of unripe pod dominant over yellow.

(5) Inflated condition of ripe pod dominant over constricted.

(6) Purple colour of flower dominant over white.

Postulate III. Law of Segregation or Law of Purity of Gametes (Mendel’s First

Law of Inheritance):
The two factors (alleles) of a trait which remain together in an individual do not get
mixed up but keep their identity distinct, separate at the time of gametogenesis
(i.e., gametes formation) or sporogenesis (i.e., spores formation), get randomly
distributed to different gametes and then get paired again in different offspring’s as
per the principle of probability. Since two alleles remain together in pure form
without mixing, affecting or blending each other, the law of segregation is also
known as “law of purity of gametes”.

Main features of this law are as follows:

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1. When a dominant and a recessive allele of a gene come together in a hybrid after
crossing between two plants having contrasting characters, they do not mix or
blend together.

2. They separate into different gametes in equal number. Each gamete has only one
type of allele (say either A or a).

3. Separation of two alleles of a gene during gamete formation takes place usually
due to the separation of homologous chromosomes during meiosis (anaphase I),
because alleles are located on the chromosomes.

4. With complete dominance, segregation leads to phenotypic ratio of 3: 1 in

F2 generation for characters governed by a single gene, and 9: 3: 3: 1 ratio for
characters controlled by two genes.
ADVERTISEMENTS:

5. If crossing over does not take place, segregation of genes takes place during
anaphase I. If crossing over occurs, segregation of genes will take place during
anaphase II.

Example:
The principle of the law of segregation can be explained by means of a
monohybrid cross.

Analysis of Monohybrid Cross:

A cross in which only a single pair of alleles is considered is called a monohybrid
cross. Figure 5.2 is a graphic analysis of the cross between tall and dwarf peas in
terms of Mendel’s interpretation.
In this, T is the symbol which stands for the factor or gene controlling tallness, and
t is the symbol used to denote the factor or gene controlling dwarfness. The factors
or genes as also postulated by Mendel, always occur in pairs. Both tall and the
dwarf plants which are crossed are homozygous (i.e., both the genes in a pair are
identical). These plants are “pure” for tallness and dwarfness respectively, and if
self pollinated will always breed true, producing only tall and dwarf plants
respectively.

In the present monohybrid cross the tall parent, which is homozygous, is shown as
TT, and the dwarf parent is shown as tt. During the course of sexual reproduction
both kinds of plants produce gametes; these gametes contain but one factor of each
pair (i.e., either T or t). The gametes produced by the tall plant contain T gene
while the gametes of dwarf plant possess t gene.
The fusion of a gamete from the tall plant with a gamete from the dwarf plant
produces a tall plant in the F1 generation, because the gene for tallness (T) is
dominant over that of dwarfness (t). The new plant in the F, generation is shown in
the diagram as Tt. It is a heterozygous plant because it possess a pair of
homologous chromosomes carrying one allele for tallness and one for dwarfness.
The heterozygous plants produce two kinds of gamete or sex cell, male gametes
and female gametes. Half of the male gametes contain T gene and half possess t
gene. Similarly half of the female gametes possess T gene and half contain t gene.
During the process of fertilization which follows these two kinds of gametes (i.e
male and female) unite at random and produce F2 (second filial) generation.
ADVERTISEMENTS:

As a result of these chance combinations, an approximate phenotypic ratio of 3 tall

plants to 1 dwarf plant (i.e., 3: 1 ratio) is normally obtained. All plants with TT and
Tt genes will be tall, and the plants possessing tt (both recessive) genes will be
dwarf.

Further self breeding of these plants shows that the dwarf plants breed true (tt), i.e.,
produce only dwarf plants. Amongst tall plants, 1/3 breed true, that is, yield only
tall plants. The remaining 2/3 of the F2 tall plants or 50% of the total F2 plants
behave as hybrid plants and produce both tall and dwarf plants in the ratio 3: 1.
Therefore, the F2 phenotypic ratio of 3: 1 is genotypically 1 pure tall: 2 hybrid tall:
1 dwarf (1: 2: 1 ratio is also called Mendel’s Monohybrid Genotypic Ratio).
Postulate IV. Law of Independent Assortment (Mendel’s Second Law of
Inheritance):
After being satisfied with monohybrid crosses, Mendel took into consideration two
pairs of contrasting characters and studied their inheritance (i.e., di-hybrid cross).

According to this law “the two factors (genes) of each contrasting character (trait)
assort or separate independently of the factors of other characters at the time of
gamete formation and get randomly rearranged in the offspring”.

Following are the main features of this law:

1. This law explains simultaneous inheritance of two plant characters.

ADVERTISEMENTS:

2. In F1 when two genes controlling two different characters, come together, each
gene exhibits independent dominant behaviour without affecting or modifying the
effect of other gene.
3. These gene pairs segregate during gamete formation independently.
4. The alleles of one gene can combine freely with the alleles of another gene.
Thus, each allele of a gene has an equal chance to combine with each allele of
another gene.

5. Each of the two gene pairs when considered separately, exhibits typical 3: 1
segregation ratio in F2 generation. This is a typical di-hybrid segregation ratio.
6. Random or free assortment of alleles of two genes leads to formation of new
gene combinations.

Example:
ADVERTISEMENTS:

The principle or law of independent assortment can be studied by means of di-

hybrid cross.

Analysis of Di-hybrid Cross:

In the di-hybrid cross Mendel crossed pure (i.e., homozygous) plants of round seed
and yellow cotyledons variety of pea with those having wrinkled seed and green
cotyledons. He had already studied these characters and had observed that
roundness was dominant over wrinkleless, and yellow colour of the cotyledons was
dominant over green colour. As shown in the figure 5.3 one homozygous parent is
expressed as RRYY (Round seed and yellow cotyledons) and the other is
expressed as rryy (wrinkled seed and green cotyledons).

The former, as expected, will produce gametes with YR genes, and the latter will
produce gametes with ry genes. The two kinds of gametes fuse to produce
F1 individual with genetic constitution RrYy. Phenotypically these individuals
possess round seeds with yellow cotyledons because roundness is dominant over
wrinkleless, and yellow colour is dominant over green. F1 individuals are thus
heterozygous round and heterozygous yellow.
When Mendel self-fertilized the F1 individuals, in F2 generation he observed
plants of four kinds in the following phenotypic frequencies:
image
Thus the four categories of plants appeared in approximate phenotypic ratio of 9:
3: 3: 1. (Called Mendel’s Di-hybrid phenotypic Ratio) (Fig. 5.3). The most
noteworthy feature of this di-hybrid cross that struck Mendel was the appearance
of two new categories of plants besides the parental-ones i.e., Round Green, and
wrinkled yellow. These two new categories were in fact the re-combinations of the
parental characters. This led Mendel to postulate the law of independent
assortment.

It can also be proved by studying the individual character of seed colour and
seed shape separately:
Seed colour:
Yellow (9 + 3 = 12): Green (3 + 1 = 4) or 3: 1

Seed Shape:
Round (9 + 3 = 12): Wrinkled (3 + 1 = 4) or 3: 1

The result of each character is similar to the monohybrid ratio.

Shortcomings of the Law of Independent Assortment:
The principle or law of independent assortment is applicable to only those factors
or genes which occur on different chromosomes. Actually, a chromosome bears
hundreds of genes. All the genes or factors present on a chromosome are inherited
together except when ‘crossing over’ takes place.

The phenomenon of inheritance of a number of genes or factors together due to

their occurrence on the same chromosome is called linkage. Mended himself found
that white-flowered pea plants always produced white seeds, while red-flowered
plants always yielded grey seeds.
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