Patterns of Inheritance

Ch 9 TB
 Introduction
• Heredity is the transmission of traits from one
generation to the next.

• Genetics is the scientific study of heredity

Chromosomes carry the hereditary
information (genes)
Arrangement of nucleotides in DNA
DNA  RNA  Proteins

Mendel predicted the concept of

genes - genes occur in pairs.
one gene of each pair is present
in the gametes Gregor
 Genetics terms you need to know:
Genome – the entire set of genes in an organism
Gene – a unit of heredity; a section of DNA sequence encoding a
single protein

Alleles – two genes that occupy the same position on homologous

chromosomes and that cover the same trait (like ‘flavors’ of a trait).

Alternate forms of a gene

Locus – a fixed location on a strand of DNA where a gene or one of its

alleles is located.
Homozygous – pair of chromosomes having identical genes (one
from each parent) for a particular character(istic).

Heterozygous – having two different genes for a particular

character(istic).

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.
Genotype – the genetic makeup of an organisms
Phenotype – the physical appearance of an organism (Genotype +
environment)
HYBRID - the offspring of two different purebred varieties,
cross fertilization referred as genetic cross.
Chromosomes (and genes) occur in pairs
Homologous Chromosomes

New combinations of genes occur in sexual reproduction

Fertilization from two parents
Relation between alleles and homologous chromosome
 Quick Review - Identify A to F
A – homologous chromosomes

B sister
chromatids C- sister chromatids

E-

M M or m
N n

F - CROSSING OVER
G – The organism is __heterozygous____ for the characteristic encoded by gene N
Gregor Mendel
Deduced fundamental principles of heredity by
breeding garden peas

Easy to grow and has many rapidly distinguishable

varieties
eg. white flower variety, purple flower variety

Worked with pure lines of peas for eight years in his

Abbey garden-strictly control their reproduction
Mendelian Genetics:
Fertilization in Pea Plants: Pollens fall on stigma and then fertilize the eggs

Self-fertilization

Cross-fertilization
Mendel developed four hypotheses:
1. There are alternative versions of genes that account for
variations in inherited characters - alleles
2. For each inherited character, an organism inherits two alleles,
one
from each parent.
Homozygotes: both alleles are same, Heterozygotes: two alleles are
different

3. If the two alleles of an inherited pair differ, then one determines

the organisms' appearance and is called the dominant allele;
the other has no noticeable effect on the organisms'
appearance and is called recessive allele. - Mendel’s Law of
Dominance
4. A sperm or egg carries only one allele for each inherited
character because the two alleles for a character segregate
(separate) from each other during production of gametes. -
In genetic crosses:
P = Parental generation
F1 = First filial generation; offspring from a genetic cross.
F2 = Second filial generation of a genetic cross

Monohybrid cross: A genetic cross involving a single

pair of genes (one trait); The parents differ by a single
trait.
5 steps are followed to solve problems in Genetics:

1. Assign the symbols (usually capital letter for dominant and

small letter for recessive)
2. Determine the genotype of each parent and indicate a
cross
(putting x symbol = TT x TT)
3. Determine all the possible kinds of gametes each parent can
produce.
4. Determine all the gene combinations that can result when
these gametes unite, using Punnett squares
5. Determine the phenotype of each possible gene
combination
 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 x tt
 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
 Punnett square
A useful tool to do genetic crosses
For a monohybrid cross, you need a square divided by
four….

We use the Punnett square to predict the genotypes and

phenotypes of the offspring.
Single-Factor Crosses
Problem 1: The pod colour of some pea plants is inherited so that green pods are
dominant to yellow pods. A pea plant that is heterozygous for green pods is crosses to
a pea plant that produces yellow pods. What proportion of the offsprings will have
green pods?

Solution:
Step1: Allotting the symbols
G = green g= yellow
Step2: Determining genotype of the parent and crossing them
Green pods x yellow pods
Gg x gg
Step3: possible gametes produced by the parents
Parent 1: G g
Parent 2: g
Step4 : Gene combination using Punnett square
Step 5: Determining the phenotype of each Gametes g g
possible gene combination G Gg Gg
50% of the offsprings will have green
pods. g gg gg
Single-Factor Crosses
Problem2 : The normal condition is to convert phenylalanine to tyrosine. It is dominant over
the condition of PKU. If both parents are heterozygous for PKU,
i. what is the probability that they will have a child who is normal?
ii. A child with PKU?
Solution:
Step1: Allotting the symbols
P = normal p= phenylketonuria
Step2: Determining genotype of the parent and crossing them
Heterozygous Normal x Heterozygous normal
Pp x Pp
Step3: possible gametes produced by the parents
Parent 1: P p
Parent 2: P
p
Step4 : Gene combination using Punnett square
Step 5: Determining the phenotype of each Gametes P p
possible gene combination
i. 75% (3/4) of the offsprings will be normal. P PP Pp
ii. 25% (1/4) of the offsprings will have PKU
p Pp pp
 Dihybrid Cross

Mendel’s Law of Independent Assortment

Alleles of one characteristic separate independently of the alleles of another.
This law is applicable only if the two genes for the different characters are on different chromosomes.
 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
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)

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

Possible Gametes for parents

T P
TP tp
t p Tt Pp

F1 Generation: All tall, purple flowers (Tt Pp)

 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)
 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
3 Short purple tp TtPp Ttpp ttPp ttpp

1 Short white
Phenotype Ratio = 9:3:3:1
 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
2 ttPp Short, purple (3)

1 ttpp Short, white (1)

Dihybrid Crosses
Problem1 : In peas, purple flower characteristic is dominant over white flower and tall stem length is
dominant over short stem length. If a true-bred parent dominant for both characteristics is crossed with a
parent recessive for both characteristics,
1. What will be the genotypic and phenotypic ratio of the F1 generation?
2. What will be the phenotypic ratio of the F2 generation

Step 1: Purple – P, white – p; T – tall, t - short

PT Pt pT pt
PT PPTT PPTt PpTT PpTt
Step 2: Genotypes: PPTT X pptt
Pt PPTt PPtt PpTt Pptt

pT PpTT PpTt ppTT ppTt

Step 3: Gametes: PPTT – PT ; pptt -pt
pt PpTt Pptt ppTt pptt

Step 4: F1: PT X pt = PpTt : Purple flower and tall stem

Step 2: PpTt X PpTt

Gametes:
Punnett square
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 combinations which lead to huge amount of
variation and diversity are one of the advantages of sexual reproduction
Human Traits (controlled by single gene)
Solving Problems in Genetics
Double-Factor Crosses

Problem 3: In humans, the allele for free earlobes is dominant over the allele
for attached earlobes. The allele for dark hair dominates the allele for light
hair. If both parents are heterozygous for earlobe shape and hair colour,
i. what type of offspring can they produce?
ii. What is the probability for each type?

Solution:
Step 1: Allotting the symbols
Step 2: Determining genotype of the parent and crossing them
Step 3: possible gametes produced by the parents
Step 4 : Gene combination using Punnett square
Step 5: Determining the phenotype of each possible gene combination
Solving Problems in Genetics
Double-Factor Crosses
Problem 3: In humans, the allele for free earlobes is dominant over the allele for attached earlobes. The allele
for dark hair dominates the allele for light hair. If both parents are heterozygous for earlobe shape and hair
colour,
i. what type of offspring can they produce?
ii. What is the probability for each type?
Solution:
Step1: Allotting the symbols
E = free earlobes e= attached earlobes
H = Dark hair h = light hair
Step2: Determining genotype of the parent and crossing them
Heterozygous for earlobe and hair colour x Heterozygous for earlobe and hair colour
EeHh x EeHh
Step3: possible gametes produced by the parents
Parent 1: EH Eh eH eh
Parent 2: EH Eh eH eh
Step4 : Gene combination using Punnett square
Step 5: Determining the phenotype of each Gametes EH Eh eH eh
possible gene combination
A. Free earlobes and Dark hair (9/16)
B. Free earlobes and light hair (3/16) EH EEHH EEHh EeHH EeHh
C. Attached earlobes and dark hair (3/16) Eh EEHh EEhh EeHh Eehh
D. Attached earlobes and light hair (1/16)
eH EeHH EeHh eeHH eeHh
eh EeHh Eehh eeHh eehh
Coat color:
Black coat: Dominant (B), Chocolate coat: Recessive (b)
Vision:
Normal vision: Dominant (N), Blindness (progressive retinal atrophy): Recessive (n)
Coat color:
Black coat: Dominant (B), Chocolate coat: Recessive (b)

Genotype???

Testcross
Mating an individual with dominant phenotype but unknown genotype with a
homozygous recessive individual to find out the former’s genotype
Single-Factor Crosses
Problem2 : The normal condition is to convert phenylalanine to tyrosine. It is dominant over
the condition of PKU. If both parents are heterozygous for PKU,
i. what is the probability that they will have a child who is normal?
ii. A child with PKU?
Single-Factor Crosses
Problem2 : The normal condition is to convert phenylalanine to tyrosine. It is dominant over
the condition of PKU. If both parents are heterozygous for PKU,
i. what is the probability that they will have a child who is normal?
ii. A child with PKU?
Solution:
Step1: Allotting the symbols
P = normal p= phenylketonuria
Step2: Determining genotype of the parent and crossing them
Heterozygous Normal x Heterozygous normal
Pp x Pp
Step3: possible gametes produced by the parents
Parent 1: P p
Parent 2: P
p
Step4 : Gene combination using Punnett square
Step 5: Determining the phenotype of each Gametes P p
possible gene combination
i. 75% (3/4) of the offsprings will be normal. P PP Pp
ii. 25% (1/4) of the offsprings will have PKU
p Pp pp
Variations on Mendel’s Laws
 Variations on Mendel’s Laws
1. Partial or incomplete dominance:

RR rr Rr
 Variations on Mendel’s Laws
1. Partial or incomplete dominance:

In humans, curly hair dominates over straight hair but in an incomplete manner – leading
to a mixed phenotype of wavy hair in the heterozygotes.

(Note that although incomplete dominance is observed in human hair texture, it is not a Mendelian
character – i.e. it is not controlled by multiple genes, but rather many different genes in different
populations are responsible for hair being straight, curly or anything in between – a continuous trait.
But two alleles of these genes are not fully dominant over the other)
rr
Problem: If a pink snapdragon is crossed with a white
snapdragon, what phenotypes can result and what is
the probability of each phenotype?

Do we need to conduct Testcross for incomplete dominance?

 VARIATIONS TO MENDEL’S LAW OF DOMINANCE
1.Codominance can be observed in rhododendrons that produce
flowers with two different color phenotypes. Flowers with both red and
white petals are produced by the simultaneous expression of red and
white genes for flower color.

2. The coat color of the Shorthorn breed of cattle is a prime example of codominance.
When a cattle with a red coat (CRCR) and a cattle with a white coat (CWCW) are crossed, the F1
heterozygote or hybrid possesses a roan coat (CRCW).
The red and white hairs of a roan coat are present in distinct regions, but no hair has an
immediate between the two colors.
Co dominance (Multiple alleles):
Co dominance (Multiple alleles):
Problem: One aspect of blood type is determined by 3 alleles, A,
B, O. Allele A and Allele B are both dominant to allele O. A male
heterozygous with blood type A and female heterozygous with
blood type B have a child. What are the possible phenotypes of
their offsprings?
Single-Factor Crosses
Observe the image below depicting the inheritance pattern for sickle cell disease and the shape of the blood
cells in each case and answer the following questions:
1. Draw the genotypes of the P and F1 generations
2. Comment on Mendel’s law of dominance in the context of the given cross.
Polygenic inheritance
 Epigenetics and the role of environment

The field of epigenetics tells us that our genes interact with our
environment, and that the environment is capable of turning
specific genes on or off, by chemical modification of DNA and/or
histones in the chromatin

(Read the Book portion for this topic)