Principles of Inheritance

A K A Mandal

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 Introduction to Genetics
• GENETICS – branch of biology that deals
with heredity and variation of organisms.

• Chromosomes carry the hereditary

information (genes)
• Arrangement of nucleotides in DNA
• DNA  RNA  Proteins

3
• Chromosomes (and genes) occur in pairs
Homologous Chromosomes
• New combinations of genes occur in sexual
reproduction
– Fertilization from two parents

4
 Gregor Johann Mendel
• Austrian Monk, born in what is now Czech Republic in
1822
• Son of peasant farmer, studied
Theology and was ordained
priest Order St. Augustine.
• Went to the university of Vienna, where he
studied botany and learned the Scientific Method
• Worked with pure lines of peas for eight years
• Prior to Mendel, heredity was regarded as a "blending"
process and the offspring were essentially a "dilution"of
the different parental characteristics.
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 Mendel’s peas
• Mendel looked at seven traits or characteristics of
pea plants:

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• In 1866 he published
Experiments in Plant
Hybridization, (Versuche über
Pflanzen-Hybriden) in which
he established his three
Principles of Inheritance
• Work was largely ignored for
34 years, until 1900, when
3 independent botanists
rediscovered Mendel’s work.
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• Mendel was the first biologist to use
Mathematics – to explain his results
quantitatively.
• Mendel predicted
The concept of genes
That genes occur in pairs
That one gene of each pair is
present in the gametes

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 Genetics Terms
• Gene – a unit of heredity;
a section of DNA sequence
encoding a single protein
• Genome – the entire set
of genes in an organism

• 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. 9
 Dominant
allele
Gene loci

P a B

P a b
Recessive
allele

Genotype: PP aa Bb
Heterozygous
Homozygous Homozygous
for the for the
dominant allele recessive allele

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• Homozygous – having identical genes (one
from each parent) for a particular characteristic.
• Heterozygous – having two different genes for
a particular characteristic.

• Dominant – the allele of a gene that masks or

suppresses the expression of an alternate allele;
the trait appears in the heterozygous condition.
• Recessive – an allele that is masked by a
dominant allele; does not appear in the
heterozygous condition, only in homozygous.
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• Genotype – the genetic makeup of an organisms
• Phenotype – the physical appearance
of an organism (Genotype + environment)

• Monohybrid cross: a genetic cross involving a

single pair of genes (one trait); parents differ by a
single trait.
• P = Parental generation
• F1 = First filial generation; offspring from a
genetic cross.
• F2 = Second filial generation of a genetic cross 12
13
 Monohybrid cross
• Parents differ by a single trait.
• Crossing two pea plants that differ in stem size,
one tall one short
T = allele for Tall
t = allele for dwarf

TT = homozygous tall plant

t t = homozygous dwarf plant

TT  tt 14
 Monohybrid cross for stem length:
P = parentals TT  tt
true breeding, (tall) (dwarf)
homozygous plants:

F1 generation Tt
is heterozygous: (all tall plants)

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 Punnett square
• A useful tool to do genetic crosses
• For a monohybrid cross, you need a square divided by
four….
• Looks like
a window
pane…
We use the
Punnett square
to predict the
genotypes and phenotypes of
the offspring.
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 Using a Punnett Square
STEPS:
1. determine the genotypes of the parent organisms
2. write down your "cross" (mating)
3. draw a p-square

Parent genotypes:
TT and t t

Cross
TT  tt

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 Punnett square
4. "split" the letters of the genotype for each parent & put
them "outside" the p-square
5. determine the possible genotypes of the offspring by filling
in the p-square
6. summarize results (genotypes & phenotypes of offspring)

T T
TT  tt
t Genotypes:
Tt Tt
100% T t

Phenotypes:
t Tt Tt 100% Tall plants
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 Monohybrid cross: F2 generation
• If you let the F1 generation self-fertilize, the next
monohybrid cross would be:
Tt  Tt
(tall) (tall)
Genotypes:
1 TT= Tall
T t 2 Tt = Tall
1 tt = dwarf
Genotypic ratio= 1:2:1
T TT Tt
Phenotype:
3 Tall
t Tt tt 1 dwarf
Phenotypic ratio= 193:1
 Another example: Flower color
For example, flower color:
P = purple (dominant)

p = white (recessive)

If you cross a homozygous Purple (PP) with a

homozygous white (pp):
PP  pp

Pp ALL PURPLE (Pp)

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Cross the F1 generation:
Pp  Pp

Genotypes:
P p 1 PP
2 Pp
1 pp
P PP Pp
Phenotypes:
p Pp pp 3 Purple
1 White
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Mendel’s 5,474 round 1,850 wrinkled

Monohybrid 6,022 yellow 2,001 green

Cross Results 882 inflated 299 wrinkled

428 green 152 yellow

F2 plants showed 705 purple 224 white

dominant-to-
recessive ratio that 651 long 207 at tip
averaged 3:1 stem

787 tall 277 dwarf

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 Mendel’s Principles
• 1. Principle of Dominance:
One allele masked another, one allele was
dominant over the other in the F1 generation.

• 2. Principle of Segregation:
When gametes are formed, the pairs of
hereditary factors (genes) become separated,
so that each sex cell (egg/sperm) receives only
one kind of gene.
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 Human case: CF
• Mendel’s Principles of Heredity apply
universally to all organisms.
• Cystic Fibrosis: a lethal genetic disease affecting
Caucasians.
• Caused by mutant recessive gene carried by 1 in
20 people of European descent (12M)
• One in 400 Caucasian couples will be both
carriers of CF – 1 in 4 children will have it.
• CF disease affects transport
in tissues – mucus is accumulated
in lungs, causing infections. 24
• Cystic fibrosis (CF) is a genetic disorder that
affects mostly the lungs but also
the pancreas, liver, kidneys, and intestine. Long-
term issues include difficulty breathing and
coughing up mucus as a result of frequent lung
infections. Other signs and symptoms
include sinus infections, poor growth, fatty
stool, clubbing of the fingers and toes,
and infertility in males, among others. Different
people may have different degrees of symptom
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• CF is inherited in an autosomal recessive
manner. It is caused by the presence of mutations
in both copies of the gene for the cystic fibrosis
transmembrane conductance regulator (CFTR)
protein
• Those with a single working copy are carriers and
otherwise mostly normal. CFTR is involved in
production of sweat, digestive fluids, and mucus
• When CFTR is not functional, secretions which
are usually thin instead become thick. The
condition is diagnosed by a sweat test and genetic
testing
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 Inheritance pattern of CF
IF two parents carry the recessive gene of
Cystic Fibrosis (c), that is, they are
heterozygous (C c), one in four of their
children is expected to be homozygous for
cf and have the disease:
C c

C C = normal C CC Cc
C c = carrier, no symptoms
c c = has cystic fibrosis
c Cc cc
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 Probabilities…
• Of course, the 1 in 4 probability of getting the
disease is just an expectation, and in reality,
any two carriers may have normal children.
• However, the greatest probability is for 1 in 4
children to be affected.
• Important factor when prospective parents are
concerned about their chances of having
affected children.

Try other combinations?

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 Dihybrid crosses
• Matings that involve parents that differ in two
genes (two independent traits)
For example, flower color:
P = purple (dominant)

p = white (recessive)

and stem length:

T = tall t = short
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 Dihybrid cross: flower color and
stem length
TT PP  tt pp
(tall, purple) (short, white)

Possible Gametes for parents tp tp tp tp

T P and t p TP TtPp TtPp TtPp TtPp

TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
F1 Generation: All tall, purple flowers (Tt Pp) 30
 Dihybrid cross F2
If F1 generation is allowed to self pollinate,
Mendel observed 4 phenotypes:
Tt Pp  Tt Pp
(tall, purple) (tall, purple)
TP Tp tP tp
Possible gametes:
TP Tp tP tp TP TTPP TTPp TtPP TtPp
Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
Four phenotypes observed
Tall, purple (9); Tall, white (3); Short, purple (3); Short white (1)
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 Dihybrid cross

9 Tall purple
TP Tp tP tp

TP TTPP TTPp TtPP TtPp

3 Tall white Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
3 Short purple

Phenotype Ratio = 9:3:3:1

1 Short white
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 Dihybrid cross: 9 genotypes
Genotype ratios (9): Four Phenotypes:
1 TTPP
2 TTPp Tall, purple (9)
2 TtPP
4 TtPp
1 TTpp
Tall, white (3)
2 Ttpp
1 ttPP
Short, purple (3)
2 ttPp
1 ttpp Short, white (1)
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Principle of Independent Assortment
• Based on these results, Mendel postulated the
3. Principle of Independent Assortment:
“Members of one gene pair segregate
independently from other gene pairs during
gamete formation”

Genes get shuffled – these many combinations are

one of the advantages of sexual reproduction

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 Test cross
When you have an individual with an unknown
genotype, you do a test cross.
Test cross: Cross with a homozygous recessive
individual.

For example, a plant with purple flowers can

either be PP or Pp… therefore, you cross the
plant with a pp (white flowers, homozygous
recessive)
P ?  pp
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 Test cross
• If you get all 100% purple flowers, then the
unknown parent was PP… P P
p Pp Pp

p Pp Pp
•If you get 50% white,
50% purple flowers, P p
then the unknown p Pp pp
parent was Pp…
p Pp pp 36
 Reciprocal Cross
• Mendel made reciprocal crosses. In most plants,
any cross can be made in two ways, depending on
which phenotype is used as male or female. For
example, the following two crosses are reciprocal
crosses:

phenotypeOA x phenotype O
B
+
phenotypeOB x phenotype O
A
+

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• Mendel made a reciprocal cross in which he pollinated a
white flower with pollen from a purple-flowered plant.
This reciprocal cross produced the same result (all purple
flowers) in the F1 as the original cross had
• He concluded that it makes no difference which way the
cross is made. If one pure breeding parent is purple-
flowered and the other is white-flowered, all plants in the
F1 have purple flowers.
• The purple flower color in the F1 generation is identical
with that in the purple-flowered parental plants.

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 Beyond Mendelian Genetics:
Incomplete Dominance
Mendel was lucky!
Traits he chose in the
pea plant showed up
very clearly…
One allele was dominant over another, so
phenotypes were easy to recognize.

But sometimes phenotypes are not very

obvious… 39
 VARIATIONS ON MENDEL’S LAWS
The relationship of genotype to phenotype is rarely
simple. Genetics is not as simple as Gregor Mendel
concluded, (one gene, one trait)
– Mendel’s principles are valid for all sexually reproducing
species
• But genotype often does not dictate phenotype in the simple way his
laws describe
• We know now that there is a range of dominance
and that genes can work together and interact.

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 Incomplete dominance:
  

When the F1 generation have an appearance in between the

phenotypes of the parents.

Ex: pink snapdragons offspring of red and white ones.

Another way to say it is
In incomplete dominance
Heterozygote phenotype is somewhere between that of
two homozygotes

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Flower Color in Snapdragons:
Incomplete Dominance

Red-flowered plant X White-flowered plant

(homozygote) (homozygote)

Pink-flowered F1 plants
(heterozygotes)

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Incomplete dominance in snapdragon color

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 Flower Color in Snapdragons:
Incomplete Dominance
• Red flowers - two alleles allow them to
make a red pigment
• White flowers - two mutant alleles; can’t
make red pigment
• Pink flowers have one normal and one
mutant allele; make a smaller amount of red
pigment
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Flower Color in Snapdragons:
Incomplete Dominance

Pink-flowered plant X Pink-flowered plant

(heterozygote) (heterozygote)
White-, pink-, and red-flowered plants
in a 1:2:1 ratio

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Incomplete dominance in carnations

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Co-Dominance or multiple alleles:
• Codominance
– Non-identical alleles specify two phenotypes
that are both expressed in heterozygotes

• Having more than 2 alleles for a given trait

and both alleles show in the phenotype. No
single one is dominant over the other.
• Example: ABO blood types

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 Genetics of ABO Blood Types:
Three Alleles
• Gene that controls ABO type codes for
enzyme that dictates structure of a
glycolipid on blood cells

• Two alleles (IA and IB) are codominant

when paired

• Third allele (i) is recessive to others

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ABO blood types

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 Pleiotropy:

 
One genes having many effects. Only one gene
affects an organism in many ways.
Ex: sickle cell anemia and cystic fibrosis

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 Pleiotropy

• Alleles at a single locus may have effects on two

or more traits
• Classic example is the effects of the mutant
allele at the beta-globin locus that gives rise to
sickle-cell anemia

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• A single gene may affect many phenotypic
characteristics
– In pleiotropy
• A single gene may affect phenotype in many ways
Individual homozygous
for sickle-cell allele

Sickle-cell (abnormal) hemoglobin

Abnormal hemoglobin crystallizes,

causing red blood cells to become sickle-shaped

Sickle cells

5,555
Clumping of cells
Breakdown of Accumulation of
and clogging of
red blood cells sickled cells in spleen
small blood vessels

Physical Heart Pain and Brain Damage to Spleen

Anemia damage
weakness failure fever other organs damage

Impaired Pneumonia
mental Paralysis and other Rheumatism Kidney
function infections failure

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 Genetics of Sickle-Cell Anemia
• Two alleles
1) HbA
Encodes normal beta
hemoglobin chain
2) HbS
Mutant allele encodes
defective chain
• HbS homozygotes produce only
the defective hemoglobin; suffer
from sickle-cell anemia
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Pleiotropic effects of the sickle-cell allele in a homozygote

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 Epistasis:
• Interaction between the products of gene
pairs
Interaction between two genes in which one
of the genes modifies the expression of
the other.
Ex: fur /hair color in mammals and albinism

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 Epistasis: Genetics of Coat Color in Labrador Retrievers
• Labrador retrievers one gene locus affects coat color by
controlling how densely the pigment melanin is deposited in the
fur.
• A dominant allele (B) produces a black coat while the recessive
allele (b) produces a brown coat
• However, a second gene locus controls whether any melanin at
all is deposited in the fur. Dogs that are homozygous recessive at
this locus (ee) will have yellow fur no matter which alleles are at
the first locus:
• Two genes involved
- One gene influences melanin production
• Two alleles - B (black) is dominant over b (brown)
- Other gene influences melanin deposition
• Two alleles - E promotes pigment deposition and is 56
dominant over e
Epistasis
E_
ee Dark pigment in fur
No dark pigment in fur

eebb eeB_ E_bb E_B_

Yellow fur Yellow fur Brown fur Black fur

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Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
 Allele Combinations
and Coat Color
• Black coat - Must have at least one
dominant allele at both loci
– BBEE, BbEe, BBEe, or BbEE

• Brown coat - bbEE, bbEe

• Yellow coat - Bbee, BBee, bbee

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 Polygenic Inheritance
In this case many genes have an additive effect.
The characteristic or trait is the result of the
combined effect of several genes. Ex: human
skin color, height. Controlled by more than one
pair of genes
• Most traits are not controlled by a single gene
locus, but by the combined interaction of many
gene loci. These are called polygenic traits.
• Polygenic traits often show continuous
variation, rather then a few discrete forms
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• Polygenic inheritance results in a
continuous range of small differences in a
given trait among individuals
• The greater the number of genes that affect
a trait, the more continuous the variation in
versions of that trait

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 Environmental effects:

The degree to which an allele is expressed

depends on the environment
Ex: Siamese cat fur color ( enzyme for
melanin production inhibited by heat),
hydrangea flowers ( depends on acidity of
soil), height (nutrition)

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 Temperature Effects on Phenotype
• Himalayan rabbits are
Homozygous for an allele that
specifies a heat-sensitive
version of an enzyme in
melanin-producing pathway
• Melanin is produced in cooler
areas of body

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 Environmental Effects on Plant
Phenotype
• Hydrangea macrophylla

• Action of gene responsible for floral color

is influenced by soil acidity

• Flower color ranges from pink to blue

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The effect of environment of phenotype

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 Extra chromosomal inheritance

• Inheritance of extrachromosomal DNA differs from the

inheritance of nuclear DNA found in chromosomes. In
humans, virtually all of the cytoplasm is inherited from the
egg of the mother. For this reason, organelle DNA,
including mtDNA, is inherited from the mother.Mutations in
mtDNA or other cytoplasmic DNA will also be inherited
from the mother. This uniparental inheritance is an example
of non-Mendelian inheritance. Plants also show uniparental
mtDNA inheritance. Most plants inherit mtDNA maternally
with one noted exception being the redwood Sequoia
sempervirens that inherits mtDNA paternally.
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• There are two theories why the paternal mtDNA is not
transmitted to the offspring. One is simply the fact that
paternal mtDNA is at such a lower concentration than the
maternal mtDNA and thus it is not detectable in the
offspring. A second, more complex theory, involves the
digestion of the paternal mtDNA to prevent its inheritance.
It is theorized that the uniparental inheritance of mtDNA,
which has a high mutation rate, might be a mechanism to
maintain the homoplasmy of cytoplasmic DNA.

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 Continuous Variation: Quantitative Traits

• The rules of inheritance

discovered by Mendel depended
on his wisely choosing traits
that varied in a clear-cut, easily
distinguishable, qualitative way.
But humans are not either tall or
short nor are they either heavy
or light. Many traits differ in a
continuous, quantitative way
throughout a population 67
 Summary of Genetics
• Chromosomes carry hereditary info (genes)
• Chromosomes (and genes) occur in pairs
• New combinations of genes occur in sexual
reproduction
• Monohybrid vs. Dihybrid crosses
• Mendel’s Principles:
– Dominance: one allele masks another
– Segregation: genes become separated in gamete formation
– Independent Assortment: Members of one gene pair
segregate independently from other gene pairs during gamete
formation
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 Numerical Problem
• Gene R (red flower) is dominant over gene a
(white flower). What will be the phenotypic
and genotypic ratio in the offsprings
obtained from the following matting?
• i. Rr x rr
• ii. RR x rr
• iii. Rr x Rr
• iv. Rr x RR
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• Step 1. Determination of type of inheritance
• Step 2. Determination of genotype
• Step 3. Types of gametes
• Step 4. Arrangement of gametes in Punnet
square/checker board
• Step 5. Determination of genotypic/phenotypic
ratio
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• Gene R (red flower) and T (tall plant) are
dominant over gene r (white flower) and t
(dwarf plant). What will be the phenotypic
and genotypic ratio in the offsprings
obtained from the following matting?
• i. RRTT x rrtt
• ii. RRtt x rrTT
• iii. RrTt x RrTt
• iv. RrTT x RRtt

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 Testing Goodness of fit and Chi-square
Test
• When a statistical test is used to compare an ‘observed’
ratio with an ‘expected’ or ‘theoretical’ ratio, and to
determine how closely the former fits the later, it is known
as ‘testing the goodness of fit’
• In genetics and breeding, tests for goodness of fit are very
widely used for comparison of an observed Mendelian
ratio with a theoretical ratio
• There are several methods for testing goodness of fit
• The most important and popular method is the Chi-square
Test (X2)

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• Chi-square test: is defined as a statistical
comparison of observed ratios with theoretical
ratios
• The measure of dviation of the ratio is denoted by
X2 (chi-square) and calculated from the equation:

Where O=the observed number or frequency

E=the number or frequency expected on the basis of
theoretical consideration

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• When a breeding experiment is conducted and observations are
recorded, then progenies segregate in certain ratios. The theoretical ratio
is likely to be obtained according to Mendelian principles is known to
us. But since the chance factor is here and wetest only a small sample of
thepopulation, it is highly unlikely that the observed and expected ratios
will be in total agreement
• In order to test the “goodness of fit” of the observed results it is
necessary to find, (i) the deviation between the observed and the
expected results and (ii) the probability value corresponding to the
deviation
• Considering the variability in biological materials, a probability of 0.05
is taken as significant, which means that the event (in this case the
deviation) is not likely to occur more than 5 times out of 100 tests

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Testing the “goodness of fit” of momohybrid ratio
by X2 method

• Some plants of tall variety of garden pea were

crossed with a dwarf variety. F1 plants were all
tall. These were selfed. F2 generation thus
obtained was found to consist of 787 tall plants
and 277 dwarf plants, out of tota of 1064 plants.
According to Mendel’s principles the phenotypic
segregation of a monohybrid cross in F2 should be
in the ratio of 3:1 (tall:dwarf). Now test how the
observed data fits with the expected data
75
 • The data are arranged in a tabular form:

Classes Tall Dwarf Total

Observed 787 277 1064
Number (O)
Expected 798 266 1064
Number (E)
Deviation (O- -11 +11 0
E)
(O-E)2 121 121
(O-E)2/E 121/798 121/266
=0.1516 =0.4541
=0.1516+0.4541 =0.6057
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• X2 value is compared with the table for distribution of X2
in statistical table
• Degree of freedom – if there is n classes in table set up for
calculating X2 , there should be (n-1) degree of freedom
(d.f.). In the present case, n=2, so d.f.=(2-1) = 1.
• Table value for 0.05 probability at 1 d.f.=3.841. Our
calculated X2 value (0.6057) is much lower than the table
value (3.841). In this example the Mendel’s principle is
supported by the data
• In general, to be good fit the calculated value of X2 should
be lower than the table value of X2 at 0.05 probability

77
 Probabiity level (alpha)
Df 0.5 0.10 0.02 0.01 0.001
0.05
1 0.455 2.706 3.841 5.412 6.635 10.827

2 1.386 4.605 5.991 7.824 9.210 13.815

3 2.366 6.251 7.815 9.837 11.345 16.268

4 3.357 7.779 9.488 11.668 13.277 18.465

5 4.351 9.236 11.070 13.388 15.086 20.517

78
 Testing the goodness of fit of dihybrid
ratio by X2 method
• Cross between round yellow seed (YYRR)
characters and wrinkle green (yyrr). F1 are
all yellow round. F2 progeny after selfing
have 4 types of seeds as follows: 315 round
yellow, 101 wrinkled yellow, 108 round
green, 32 wrinkled green. Check whether
these data support the Mendelian principles.
• Table value for d.f. 3 at 0.05 probability is
7.815 79
 References
• Singh, B.D. 2013. Genetics. 2nd edition. Kalyani
Publishers, India.
• Anthony J.F. Griffiths, Susan R. Wessler, Sean B.
Carroll and John Doebley. 2010. Introduction to
Genetic Analysis. 10th edition. W.H. Freeman.
USA.
• Gardner, E.J., Simmons, M.J., and Snustad. D.P.
2006. Principles of genetics. 8th edition. Wiley
India, India.
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