Mendel’s Law of Inheritance

To explain Mendel’s work in more lucid manner, the post Mendelian geneticists have evolved a
genetical terminology of their own. The genetical terminology has simplified the method of
understanding of different genetical laws and phenomena. Therefore, before discussing different
genetical laws and phenomena, the important terms of genetics should be explained.

Important terms of genetics

Gene - A unit of heredity, a fragment of DNA molecule that specify for a particular amino acid or
protein. It is a particulate determiner of hereditary trait and is located in a fixed place on the
chromosome.

Genome - The entire set of genes in an organism.

Alleles – Alternate form of a gene. T (tall) and t (dwarf) are alleles.

Two genes that occupy the same position on homologous chromosomes and that cover the same trait
(like ‘flavors’ of a trait).

Locus - a fixed location on a strand of DNA where a gene or one of its alleles is located.

Homologous chromosomes: Chromosomes occurring in pairs, derived from each of two parents,
morphologically alike and bearing exactly the same gene loci.

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True-breeding - parents with a certain trait consistently pass that trait to every offspring (homozygous).

Meiosis - The cell division that produces sex cells.

Mutation – Sudden heritable change in organisms.

A change in the type or order of the bases in an organism DNA: deletion, insertion or substitution.

Natural Selection - The process by which organisms with favorable traits survive and reproduce at a
higher rate than organisms without favorable traits.

Evolution - The process by which population accumulate inherited changes over time.

Homozygote (adj. homozygous) - An individual whose chromosomes bear identical genes of a given
allelic pair and so produce only one kind of gamete, e.g. TT, aa, DD etc.

Heterozygote (adj. heterozygous) - An individual whose chromosomes bear unlike genes of a given
allelic pair and so produce more than one kind of gamete, e.g. Tt, Aa, Dd etc.

Dominant - Member of a pair of alleles that expresses itself in heterozygote to the complete exclusion
of the other member of the pair, e.g. T is dominant over t.

Recessive - Member of a pair of alleles that fails to express itself in the presence of its dominant allele;
expresses only in the homozygote state, e.g. t is recessive to T.

Genotype - The genetic makeup of an organisms, usually expressed by a symbol, e.g. TT, Tt, tt etc.

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Phenotype - The physical appearance of an organism, usually expressed in words, e.g. tall, dwarf, wild-
type etc. Phenotype = (Genotype + environment), P = G + E

Factor - Each phenotypic trait of an organism caused and determined at least two Mendelian factors
which are now called genes.

Offspring (Progeny) - Individuals derived from parents.

Cross - A genetic cross is the purposeful mating of two individuals resulting in the combination of
genetic material in the offspring. Crosses can be performed in many model systems—including plants,
yeast, flies and mice and can be used to dissect genetic processes or create organisms with novel traits.

Reciprocal cross - When both parents were used as male and female parents.

Hybrid- An individual resulting from cross between two genetically unlike parents, e.g. TT × tt → Tt.
A hybrid is usually a heterozygote.

Wild type - The normal allele, usually dominant in the population. It may form another allele (recessive)
by mutation of the same locus.

Monohybrid cross - A cross between two parents that differ in only one heritable character under
consideration, e.g. TT × tt→Tt.

Dihybrid cross - A cross between individuals differing in two gene pairs under consideration, e.g.
TTRR × ttrr→ TtRr.

Trihybrid cross - A cross between individuals differing in three gene pairs under consideration, e.g.
TTRRYY × ttrryy→TtRrYy.

Polyhybrid cross - A cross between individuals differing in more than three gene pairs under
consideration, e.g. AABBCCDD × aabbccdd.
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Back cross - The F1 individual crossed with one of its parents, dominant or recessive, e.g. Tt × →TT or
tt.

Test cross - The F1 individual crossed with its recessive parent, generally to determine whether the
individual of dominant phenotype is homozygous or heterozygous, e.g. Tt × tt →TT: tt

P - Parental generation in a given cross, e.g. P: TT × tt (a cross between pure tall and pure dwarf).

F1 - The first filial generation, e.g. F1: Tt (all tall plants in heterozygous state).

F2 - The second filial generation, e.g. F1 selfing (Tt × Tt): ¼ TT: ½ Tt: ¼ tt.
Multiple alleles - More than usually two alleles of a gene for a locus.
Lethal gene - A gene which causes death of the organism, bearing it, at any stage from the zygote
onwards.
Segregation - Separation of alleles during gamete formation.
Punnett square (checkerboard) - A useful tool to do genetic crosses where a grid designed to
determine all possible genotypes produced by a given cross as shown below-

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Forked-line Method - The fork line method can be used by figuring the occurrence of each gene or set
of genes to be found in the gamete and then multiplying them together. This can be multiplied by
figuring each trait or combination of traits separate for both the male and female.

Mendel’s 1st Law (Law of Segregation)

‘Allelic genes in a zygote do not blend or contaminate or mix up with each other, but segregate and pass
into different gametes during gamete formation”.

This law is called law of purity of gametes. Mendel’s work on garden pea involved testing seven
characters individually by hybridizing two varieties showing alternative traits like tall and dwarf plants
or yellow and green seeded plants. The parental plants were from pure breeding lines or varieties and
were therefore homozygous for the specific characters.

For example, the cross between round seeded plant and wrinkled seeded ones yielded a first generation
progeny (F1 or first filial generation) that produced round seeds. When the F1 plants were self-fertilized
(selfed), examples of the round seeds and wrinkled seeds appeared in the F2.

The following pattern was established from summarizing the Mendel’s hybridization work
a) For any character, the F1 showed only one of alternative traits. Such character that was shown
was dominant and the character that was hidden was recessive.
b) Reciprocal crosses gave the same result.
c) The trait that did not appear in the F1 reappeared in the F2 but in a frequency of ¼ of the total
number.

The F1 hybrids (Rr) of a monohybrid cross between round (RR) and wrinkled (rr) seeded plant have one
dominant (R) for round seed and one recessive (r) allele for wrinkled seed. This genotype of F1 hybrids
remains the same from the unicellular adult plant. These F1 hybrids produce round seeded and wrinkled
seeded plant in the ratio of 3:1 by self-fertilization (F2). It means that round and wrinkled seed alleles
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though remain together for long time but does not contaminate or mix with any one and both alleles
segregate to produce gametes which either having dominant allele ‘R’ or recessive allele ‘r’. These
gametes unite to produce the 3:1 phenotype ratio in F2.

If two homozygous round seeded and wrinkled seeded plants are crossed. The following offspring will
be produced at different generations:

F 2 genotypic ratio: 1RR : 2Rr : 1rr

F2 Phenotypic ratio: 3 Round : 1 wrinkled

The gene ‘r’ for wrinkled character remains unexpressed in the presence of ‘R’ but when it passes into
different gametes due to segregation become expressed when they become homozygous. i.e. rr.

Suppositions of Mendel’s 1st Law

The law of segregation can be explained more clearly by making the following suppositions –
a) A character is produced by a specific gene
b) Each gene has two alternative forms; these forms are known as allele
c) The two alleles of a gene govern the development of contrasting forms of the characters
governed by the same.
d) Each somatic cell of an organism has two copies of each gene.

Assumption of Mendel’s 1st Law:

The law of segregation is based on the following assumptions or the explanation of 3:1 ratio according
to the law of segregation is based on the following assumptions:
a) The production of two types of gametes in equal frequencies in F1.

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 b) Equal survival or function of the different gametes
c) Random union of male and female gametes.
d) Equal survival of the different zygotes thus produced.

Mendel’s 2nd Law or Law of independent assortment:

“The inheritance of a pair of genes located on a given chromosome pair is unaffected by simultaneous
inheritance of the other pair located on the other chromosome pair”.

The law of independent assortment states that the genes for different characters are inherited
independently of one another or that the members of one pair of alleles segregate independently of the
other pairs. Mendel based his second law on the results of his di-hybrid cross as follows:

A dihybrid cross of round and yellow seeds those having wrinkled and green seeds is represented below-

Parent : Yellow round × Green wrinkled

Genotype : RRYY rryy
RY ry
Gamete :

F1 : RrYy (Round yellow, heterozygous)

RY Ry rY ry
Gametes :
F2: 16 combinations obtain in a dihybrid cross involving characters for seed color and shape

Gametes RY Ry rY ry
RRYY RRYy RrYY RrYy
RY
Round yellow Round yellow Round yellow Round yellow
RRYy RRyy RrYy Rryy
Ry
Round yellow Round green Round yellow Round green
RrYY RrYy rrYY rrYy
rY
Round yellow Round yellow Wrinkle yellow wrinkle yellow
RrYy Rryy rrYy rryy
ry
Round yellow Round green Wrinkle yellow Wrinkle green

Genotypic ratio: 1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1
Phenotypic ratio: 9 round yellow : 3 wrinkled yellow : 3 round green :1 wrinkled green

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Dihybrid test cross
In the F2 progenies, only of the four phenotypes i.e. green and wrinkled seeds will be homozygous for
both characters. The other three phenotypes will be heterozygous for one or both characters. Test cross
is used to test whether an individual is heterozygous or homozygous.

For instance, if an individual heterozygous for both characters (as in F1) and is crossed with double
recessive, a phenotypic ratio of 1:1:1:1 will be obtained.

Parent : Green wrinkled × Yellow Round

Genotype : rryy RrYy
Gamete :
ry RY Ry rY ry

Gametes RY Ry rY ry
RrYy Rryy rrYy rryy
ry Round yellow Round green Wrinkled yellow Wrinkled green

Genotypic ratio: 1 : 1 : 1 : 1
Phenotypic ratio: 1 round yellow : 1 wrinkled yellow :1 round green : 1 wrinkled green

The independent assortment Mendel observed in the dihybrid crosses was also observed in the trihybrids
and other hybrids involving more than three genes.

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The formula regarding the progenies of hybrids between parents that differ in the number of genes is as
follows:
Kinds of gametes = 2n Where,
Kinds of genotypes = 3n Number of gene pairs = n
Kinds of phenotypes =2n

Example:
AaBbCc × AaBbCc
2 possible gametes for A × 2 for B × 2 for C = 8 possible gametes
2n = 8 gametes
3n = 27 genotypes
2n = 8 phenotypes

AABbCC × AaBbCC
1 possible A phenotype for the cross × 2 for B phenotype for the cross × 1 for C phenotype for the
cross = 1 × 2 × 1 = 2

2n = 4

Some Genetic Traits in Humans

Genetic traits in humans can be tracked through family pedigrees. The inheritance of many human
traits follows Mendel’s laws.

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Family Pedigrees

Can be used to determine individual genotypes.

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