Chapter11:

Inheritance
• 11.1 Monohybrid Inheritance
✓ Genetics is the scientific study of inheritance

✓ Study of how variation arises and how the characteristics of individuals are passed from one

generation to the next.

✓ Characteristics are passed down

through a set of instructions called

genetic codes

✓ The passing down of genetic instructions from

one generation to the next generation is

called inheritance
• The basis of modern genetics is discovered by
Gregor Mendel, an Austrian monk.
The same area in
1920s.

Site of Gregor Mendel’s experimental

garden in the Czech Republic
 Monohybrid Cross •
• Mendel performed cross-pollination using
pure-breeding pea plants, plants that
produce only the same variety as the parent
plant over many generations of self-
pollination

• Monohybrid crosses involve only one pair of

contrasting traits of a characteristics such as
those found in two different varieties of the pea
plants
➢ Gregor Mendel (1822-1884), an Austrian monk is known as the “Father
of Genetics”
➢ He choose the garden pea plant (Pisum sativum)
➢ Published his experiments in 1866
➢ Between 1856 and 1863, Mendel cultivated and tested some 28,000 pea
plants
➢ He found that the plants' offspring retained traits of the parents
 Why peas, Pisum sativum?
▪ Can be grown in a small area
▪ Produce lots of offspring
▪ Produce pure plants when allowed
to self-pollinate in several
generations
▪ Can be artificially cross-pollinated
▪ Bisexual.
▪ Many traits known.
▪ Above all, easy to grow
 How Mendel Began?
1. Mendel produced
pure strains by
allowing the
plants to self-
pollinate for
several
generations
2.

*
pure-breeding
parents x

purple white

first filial (F1) all purple

generation

second filial (F2)

generation

705 purple 224 white

monohybrid ratio 3:1
• When he planted the seeds of F2 generation
plants, three quarters of the offspring were tall
while one quarter were dwarf
The ratio of tall to short was 3:1
THE SEVEN GARDEN PEA CHARACTERISTICS
All the plants in the F1 generation manifested a
trait which resembled only one of the parents

● Mendel called the trait manifested in the F1 plants the

dominant trait and the trait not expressed as the
recessive trait
According to Mendel’s dominance principle

● The dominant trait is determined by a dominant

inheritance factor
● The recessive trait is determined by a recessive
inheritance factor
● The dominant inheritance factor suppresses the effect
of the recessive inheritance factor
• A monohybrid cross can also be shown by using a
Punnett square
Terms used in the study of
• Inheritance•
 Genes and Alleles

Gene Allele

• The basic unit of inheritance • An alternative form of a gene

which consists of a DNA segment for a specific trait that is
located on a specific locus on a located on the same locus of a
chromosomes pair of homologous
• A gene controls a specific chromosomes.
characters in an organism

❖ Locus / Loci : a specific location of a gene in a chromosome

gene controlling • A gene is a short
skin colour length of DNA on a
chromosome which is
gene controlling a unit determining an
tongue rolling
inherited character
• It consists of a
gene controlling chemical substance
eye colour called
gene controlling
blood group
deoxyribonucleic acid
(DNA)
chromosome
 Characteristics and Traits

CHARACTERISTIC TRAIT
• A heritable feature • Each variation of a specific
• Eg: height, colour characteristic
• Eg: tall or short

Characteristics Trait
Seed colour Yellow seed @
green seed
Height Tall @ short
Dominant Alleles
Dominant alleles : an allele which always shows its traits when it is
present, and suppresses the effect of recessive allele
● Represented by a capital letter
● Example : T for tall

Recessive Alleles
Recessive alleles : an allele which can shows its trait when both alleles
are recessive alleles
 The effect of recessive allele is suppressed by the presence of dominant
allele
 Represented by small letter
 Example : t for short
Dominant Traits
Dominant traits : expressed when both alleles are dominant alleles,
or one dominant allele is paired with a recessive allele

Recessive Traits
Recessive traits : expressed if a recessive allele is paired with another
recessive allele
PHENOTYPE
● Phenotype : The observable characteristic of an organism
● Example : purple flower, tall stem, round seed, straight hair, free earlobe.

GENOTYPE
 Genotype : of an organism which is cannot be seen the genetic
composition
 Use small and capital letter as a symbol
 Example : T T : tall plant
 T t : tall plant
 t t : short plant
 Homozygote dominant
T T

Alleles

Homozygote recessive

Heterozygote
Pure-breeding

✓ Produces offspring with the same trait when self-pollinated

✓ The alleles for these types of plants are homozygous

Hybrid and dihybrid

✓ Hybrid : offspring results from crossing of two parents with different
genotypes
✓ Dihybrid : an individual that is heterozygous for two pairs of traits (a
plant with genotype RrYy produces round yellow seeds
Homozygote
● Has a pair of identical alleles for a gene that determine a
characteristic and is said to be homozygous for that gene
● Pure-breeding due to all of their gametes carry the same allele either
T or t in the parental generation

Heterozygote
 Organism that have two different alleles for a gene and is said to be
heterozygous for that gene
 Not pure-breeding because they produce gametes with different
alleles
 Relationship between character, phenotype, allele,
genotype, homozygote and heterozygote
Trait / Type of
Character Allele Genotype
phenotype genotype

Tall stem
T
(dominant)
Height
Short stem
t
(recessive)

Yellow
Y
(dominant)
Seed colour
Green seed
y
(recessive)
 Relationship between characteristic, phenotype,
allele, genotype, homozygote and heterozygote
Type of
Character Trait / phenotype Allele Genotype
genotype
Homozygote
TT
Tall stem dominant
T
(dominant) Heterozygote
Height Tt

Short stem Homozygote

t tt
(recessive) recessive
Homozygote
Yellow YY
Y dominant
(dominant)
Seed colour Yy Heterozygote
Green seed Homozygote
y yy
(recessive) recessive
 Monohybrid cross Dihybrid cross
A genetic cross between pure-breeding A genetic cross betweem parents
parents with different alleles for a that have two pairs of contrasting
specific gene that controls one traits controlled by alleles at
characteristics different loci
RR x rr RRYY x rryy
 T : the factor (allele) for the tall stem of the pea plant
t : the factor allele for the short stem of the pea plant

Tall stem x Short stem

Parent Phenotypes

Parent Genotypes TT tt

Meiosis

Parent Gametes T T t t

Random
fertilisation

Genotypes
First generation Tt Tt Tt Tt
(F1)

Tall Tall Tall Tall

F1 Phenotypes
 When there is self-pollination of the F1 plants (T t X T t)

F1 Genotypes Tt X Tt

Meiosis

F1 Gametes T t T t

Random
fertilisation

F2 Genotypes TT Tt Tt tt

F2 Phenotypes Tall Tall Tall Short

Ratio 3 Tall : 1 Short

MENDEL’S FIRST LAW
OF INHERITANCE

• Cross between tall and dwarf pea

plants carried out by Mendel involves
only one characteristics which is
known as monohybrid cross
• Based in the results of his experiments, Mendel
formulated what is now known as Mendel’s First
Law of inheritance known as Law of Segregation

• The characteristics of a diploid organism are determined

by alleles which occurs in pair
• The two alelles of a gene separate or segregate from
each other during formation of gametes through meiosis

• Only one allele is carried in a gamete and the gametes

unite randomly during fertilization
• The resultant offspring receives one allele from its male
parent and one allele from its female parent
Segregation of
alleles
Segregation of
alleles
• In the colour of rabbits’ fur, the allele B
represents black while white (allele b).
If two heterozygous rabbits are crossed, what
percentage of the offspring will have white fur?
• Solution

Phenotype of
Black fur Black fur
parents

Genotype of
parents Bb x Bb
(heterozygous)

Gametes B b B b The percentage of

offspring with white
Genotype fur is 25%
BB Bb Bb bb
offspring

Phenotype black black black white

offspring
Phenotypic
ratio Black: white
• Steps at working out genetic problem
Problem In human beings the trait of free lobes is dominant over attached
earlobes.
A heterozygous man with free earlobe marries a woman with attached
earlobe.
What are possibility the genotypes and phenotypes of their offspring
 • Steps at working out genetic problem
Solution Step 1 : Establish the letters to represent the dominant and recessive trait
Let A represent allele for freelobes and a for attached earlobes

Step 2 : Deduce from information given in the question the genotype and phenotype of both parents.
- The father is heterozygous = Aa
- The mother has attached earlobes which is homozygous recessive = aa

Step 3 : Draw genetic diagram to show the inheritance of the two traits in the offspring
 11.2
• Dihybrid Inheritance •
• Dihybrid Cross
❑ Mendel worked out on second law of inheritance by crossing pea
plants to study the inheritance of two characteristics consisting of
two pairs of contrasting traits at the same time
❑ A cross which involves two pairs of alleles which determine two
characteristics is called dihybrid cross
 DIHYBRID INHERITANCE
● The inheritance involve two characteristics in a cross – each
characteristic is controlled by different gene located at different locus.
● Example : X

Tall stem, Short stem,

Round seed Wrinkled seed
X

Tall stem, Short stem,

Red flower White flower

● Mendel found that the F2 plants produced a phenotypes ratio = [Link]

● [Link] is dihybrid ratio
 Law of Independent
Assortment

❑ Two or more genes assort independently that is

each pair of alleles segregate independently of any
other pair of alleles – during gamete formation
❑ Traits of different characteristics are inherited by the
offspring independent on one another
 recombination

Segregate Dihybrid
independently inheritance

Main
concept
 recombination

Segregate Dihybrid
independently inheritance

Main
concept
 DIHYBRID
INHERITANCE
 F1 SELF
POLLINATION
 11.3
Genes and Alleles
Unit of Inheritance and Location of Genes
1. Chromosomes are present in homologous pairs, where both members of each
homologous pair have the same structural features.
2. They are equal in length and have same patterns of genes
3. Gene is the basic unit of inheritance that is passed down from parents to
offspring
Unit of Inheritance and Location of Genes
1. Gene are arranged In a row along the chromosome , in a linear sequence
resembling a string of beads
2. Genes control the various trait or characteristics of an organism
3. The number of genes in each chromosomes is not fixed but dependent on the
size or length of the chromosome
Unit of Inheritance and Location of Genes
1. Each gene is a sequence of nucleotides at specific location or locus along a
particular chromosome
2. The nucleotide sequence may vary slightly giving rise to different versions of the
gene
3. Alleles are alternate form of the same gene that occur at the same relative loci
on a pair of homologous chromosomes
 11.4
Inheritance in
Humans
CHROMOSOME

● A human somatic cell contain 23 pairs (46) of chromosomes

● Each chromosome is made up of a long DNA (deoxyribonucleic acid) molecule
coiled around histones (protein molecules)
● A DNA molecule contains thousands of genes which code for synthesis of specific
proteins
AUTOSOMES AND SEX CHROMOSOMES
● Human somatic cell : 46 chromosomes
● Arranged into 23 homologous pairs
(same size, centromere location,
banding pattern and shape)
● 22 homologous pairs : autosomes
● 1 pairs homologous : sex
chromosomes
1) male : X + Y chromosome
2) female : X + X chromosome
CHROMOSOME
HUMAN KARYOTYPE
Human karyotype :
The complete set of chromosomes in the cells of an organism

Female Male
• The X chromosome is larger than Y
chromosome
Most of genes on the X
chromosome do not have a
homologous counterpart on the Y
chromosome
As a result, X and Y chromosomes pair up during prophase of meiosis I and

separate during anaphase I

Since the Y chromosome is much shorter than X chromosome , It carries fewer

genes
Abnormal Chromosomal
Numbers
• Occasionally, errors occur during meiosis when spindle fibres
distribute chromosomes to daughter cells
Non-disjunction is the failure of members of homologous
chromosomes to move apart properly during meiosis I or sister
chromatids to separate during meiosis II
• As a result, the gametes formed have
abnormal number of chromosomes
• One of the gametes may receive two
copies of the same type of chromosome
while another gamete receives no copy
at all
• Other chromosomes are usually
distributed normally
• Gametes produce would have 22 or 24
chromosomes instead of normal 23
chromosomes
Genetic disease related to Nondisjunction of chromosome
Disease Cause of disease Symptom
Down • An extra chromosome no. • Mentally retarded
Syndrome 21 (trisomy 21) • Flat facial features & small nose
• Total no. of chromosome: • Slanted eyes
47
Turner • Absent of one sex / X • Infertile/ non-functioning ovaries
Syndrome chromosome • Webbed neck
• No. of chromosome: • Kidney problem
44+X0
Klinefelter • An extra X chromosome • Developed breast
Syndrome • No. of chromosome: • Infertile
44+XXY • Sparse hair body
 HUMAN INHERITANCE
1. Sex Determination
➢ Male : 44 + XY
➢ Female : 44 + XX
➢ Each sperm has either
22 + X OR 22 + Y
chromosomes
(haploid)
➢ Each secondary oocyte
has 22 +X (haploid)
➢ Gender of a child
determined during
fertilisation.
 HUMAN INHERITANCE
2. ABO Blood Group
➢ Multiple alleles: IA, IB, IO
➢ Determine the type of antigen present on the surface of RBC
➢ Each person has two alleles
➢ Codominant : allele A and allele B–both show their effect–AB blood
group
 Phenotype Genotypes Types of antigen Antibody in
(blood group) on red blood cell blood plasma

Blood group IAIA A anti-B

A IA IO
Blood group I BI B B anti-A
B IAIO

Blood group IAIB A and B None

AB

Blood group IOIO None anti-A and

O anti-B
 HUMAN INHERITANCE
2. ABO Blood Group
➢ A man with A
blood group
married a woman
with B blood
group. Explain the
probability of the
couple in getting a
child with O blood
group.
➢ 1 AB : 1 A : 1 B : 1
O
3. The Rhesus factor

● The rhesus is a group of antigen in red

blood cells – antigen D
● This antigen will cause agglutination when
it reacts with antibodies from individuals
without this antigen
● Is controlled by a pair of alleles: Rh allele
and rh allele

Individual has Rhesus factor : Rh-

positive –> Rh+Rh+ @ Rh+Rh–
● Individual does not have Rhesus factor : Rh-
negative –> Rh–Rh–
● Homozygous recessive – rh-rh
HUMAN INHERITANCE
 HUMAN INHERITANCE
4. Thalassemia
➢ Inherited disease – passed down from generation to generation
➢ Due to gene mutation on an autosome – no. 11 or 16
➢ Due to the abnormality and low no. of haemoglobin – RBC smaller &
pale
➢ Thalassemia carrier – not show any symptom
➢ Thalassemia major – patient shows symptoms such as tiredness,
paleness, breathing difficulty & changes in facial bone formation from
age 3 to 18 months
 5. Sex-linked inheritance

● Humans have a pair of sex chromosomes

1) X chromosome
2) Y chromosome
● Not all gene in sex chromosomes involved in sex determination
● Sex-linked gene : the gene on the sex chromosomes which are not
involved in sex determination
● Most sex-linked gene are carried by X chromosome because X
chromosome is larger than Y chromosome
● Example of diseases related to sex-linked gene :
1) colour blindness
2) haemophilia
COLOUR BLINDNESS

● A person is colour-blind if he or she is unable to see the diference

between all or some colour
● Most common form is red-green colour blindness (inability of a
person to distinguish between red and green colours)
● Colour blindness is caused by a recessive allele on X chromosome
● Y chromosome does not carry the allele for colour vision
 Genotype & phenotype
GENDER GENOTYPE PHENOTYPE
Male Normal colour vision

Colour-blindness

Female Normal colour vision

Carrier, normal colour vision

Colour-blindness
 Genotype & phenotype
GENDER GENOTYPE PHENOTYPE
Male XCY Normal colour vision
(Homozygous dominant)
XcY Colour-blindness
(Homozygous recessive)
Female XC XC Normal colour vision
(Homozygous dominant)
XC Xc Carrier, normal colour vision
(Heterozygous)
Xc Xc Colour-blindness
(Homozygous recessive)
Schematic diagram : Inheritance of haemophilia
X
Parents
Parent phenotypes Normal eyesight X Normal eyesight
(carrier)
Parent genotypes XBY XBXb
Meiosis

Gametes XB Y XB Xb

Random fertilisation

Genotypes of child XBX XBXb XBY XbY

B

Phenotypes of child Normal Normal Normal Colour blind

(carrier
)
HAEMOPHILIA

● Is a condition in which the blood cannot clot normally due to the lack
of a protein needed for normal blood clotting
● The ability to produce the protein needed for blood clotting comes
from a dominant gene
● So, the individual who suffer from haemophilia has inability to
produce the protein needed for normal blood clotting is caused by a
recessive allele on the X chromosome
 Genotype & phenotype
GENDER GENOTYPE PHENOTYPE
Male XHY Normal blood clotting
(Homozygous dominant)
XhY Haemophiliac
(Homozygous recessive
Female XH XH Normal blood clotting
(Homozygous dominant)
XH Xh Carrier, normal blood clotting
(Heterozygous)
Xh Xh Haemophiliac
(Homozygous recessive)
Schematic diagram : Inheritance of haemophilia
X
Parents
Parent phenotypes Normal blood X
Normal blood clotting
Parent genotypes clotting H (normal) XHXh
X Y
Meiosis

Gametes XH Y XH Xh

Random fertilisation

Genotypes of child XHX XHXh XHY XhY

H

Phenotypes of child Normal Normal Normal Haemophilia

(carrier c
)
 FAMILY PEDIGREE
Lineage of a family
➢ Flowchart through a few generations to show ancestral relationship &
inheritance of characteristics from ancestors to individuals in the
present generation
➢ Enables the geneticist
✓ to predict an inherited characteristic of interest gene
✓ to identify the features of dominant or recessive gene
➢ Normally a dominant gene appears in every generation but,
recessive gene is probably hidden in certain generation
➢ Hemophilia is sometimes referred to as “the royal disease,” because it affected the royal families of
England, Germany, Russia and Spain in the 19th and 20th centuries. Queen Victoria of England, who ruled
from 1837-1901, is believed to have been the carrier of hemophilia B, or factor IX deficiency.
FAMILY PEDIGREE
Kamal has blood group A. His wife is of blood group O.
What are the possible blood group of their children?
• The genotype of Kamal can be
either IA IA or I⁰ I⁰

• The genotype of the wife can only

be I⁰ I⁰
A normal man (XHY) marries a women who is a carrier for haemophilia (XH Xh). Using
a genetic cross diagram, explain the possible genetic combinations in their children.
• Alternative resources
Here’s an assortment of alternative resources whose style fits that
of this template

● Researcher conversing laboratory

● Doctor looking blood sample