CHAPTER 11

INHERITANCE
 11.4
INHERITANCE IN
HUMANS
 HUMAN
CHROMOSOMES

• There are two types of

human chromosomes,
namely autosomes and sex
chromosomes
• Human somatic cell consists
of 44 autosomes and 2 sex
chromosomes.
• Autosomes vary in terms of
size and length
 SEX
CHROMOSOMES

• Male sex chromosomes

of XY are different in
size.
• X chromosome is longer
than Y chromosome.
• Y chromosome only
carries genes which
determine sex
characteristics.
 HUMAN
KARYOTYPE
• The number and structure of
chromosomes present in a cell
nucleus is known as karyotype.
• Chromosomes are arranged in
pairs, based on homologous
chromosomes in terms of their
sizes, centromere locations and
banding pattern of
chromosomes.
• Changes in number of
chromosome can occur due to
failure of homologous
chromosomes to separate
during anaphase I or failure of
sister chromatids to separate
during anaphase II.
• This disorder is known as
nondisjuction which can occur
in some chromosomes.
• When nondisjunction occurs in humans, either
male gamete (sperm) or female gamete (ovum)
can possess chromosome number of less than
23, that is 22 or more than 23, which is 24.
• Therefore, fertilisation that involves the
abnormal gamete with a normal gamete
produces a zygote with 45 chromosomes or 47
chromosomes.
• Examples of genetic diseases caused by
nondisjunction are Down syndrome , Turner
syndrome and Klinefelter syndrome.
Karyotype of a male with
Down syndrome
Turner syndrome karyotype
Klinefelter syndrome karyotype
 HUMAN INHERITANCE

1. ABO blood group

2. Rhesus factor (Rh)
3. Thallesemia
4. Sex determination
5. Sex-linked Inheritance
6. Ability to Roll Tongue and Types of Earlobe
 1. ABO BLOOD GROUP

• ABO blood group in humans is an example of

multiple alleles.
• Blood group is controlled by a gene which consists
of three different alleles, namely allele IA, IB and
IO.
• These alleles determine the types of antigens present
on the surface membrane of red blood cells.
• However, a person only possesses two alleles to
determine his/her blood group
• Both IA and IB are dominant alleles
whereas IO is recessive allele.
• Therefore, a combination of IA and
IO (IAIO) alleles expresses a group A
blood phenotype whereas IBIO
expresses a group B blood phenotype.
• IA and IB alleles are codominant to
one another.
• When these two alleles are present
together, effects of both alleles show.
• A combination of both alleles gives
an AB blood group phenotype
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.
• Inheritance of blood
group is an example that
does not follow Mendel’s
Law.
• According to Mendel, one
gene only has two alleles
(one dominant allele and
one recessive allele).
 2. RHESUS FACTOR (RH)

• Besides antigen A and antigen B on the surface

of human red blood cell, there is another
antigen called antigen D which is known as
Rhesus factor (Rh).
• An individual whose red blood cell has Rhesus
factor is said to be Rhesus positive (Rh+)
whereas an individual without the Rhesus
factor is said to be Rhesus negative (Rh– ).
• Inheritance of Rhesus factor from parents to children is based on
principles of Mendel’s Law.

• Rhesus factor is controlled by genes which consists of a pair of

alleles, namely Rh+ dominant and Rh– recessive.

• Genotype of an Rh positive individual is either homozygous

dominant (Rh+Rh+) or heterozygous (Rh+Rh– ).

• Rh negative individual is homozygous recessive (Rh– Rh– )

• Thalassemia is an inherited 3. THALASSEMIA
disease. The disease can be passed
down from generation to
generation.
• Thalassemia is due to gene
mutation on an autosome, that is
on chromosome 11 or 16.
• Thalassemia is due to the
abnormality and low number of
haemoglobin.
• The red blood cell is smaller and
paler.
• Thalassemia carrier is said to have a
thalassemia minor condition in which the
individual possesses recessive allele of
thalassemia but the individual does not show
any symptoms of the disease.
• Detection of thalassemia can only be
confirmed by a blood test.
• A thalassemia patient is said to have
thalassemia major when the individual has
both the recessive alleles.
• A thalassemia patient shows symptoms such
as tiredness, paleness, breathing difficulty
and changes in facial bone formation from
the age of 3 to 18 months.
 4.
SEX DETERMINATION
• A male has 44 + XY chromosomes and a
female has 44 + XX.
• Sperms produced in the testis are haploid,
and each sperm has either 22 + X or 22 + Y
chromosomes.
• Secondary oocytes produced in the ovary
are also haploid and each secondary oocyte
has only one set of chromosome, namely 22
+ X chromosomes.
• Sex or gender of a child is determined
during fertilisation
 5. SEX-LINKED
INHERITANCE
• Genes located on sex chromosomes which
control specific characteristics but are not
involved in sex determination are known
as sex-linked genes.
• Genes of colour blindness and haemophilia
are located in the X chromosome.
• These genes are called sex-linked genes.
• Characteristics of colour blindness
and haemophilia are caused by
recessive genes linked to X
chromosome.
• Y chromosome is shorter than X
chromosome and does not contain
as many alleles as X chromosome.
• Therefore, any traits in males
caused by either the dominant allele
or recessive allele on chromosome
X is observed
 A. COLOUR BLINDNESS

• Colour blindness is a condition in

which a person cannot differentiate
some specific colours such as red
and green.
• Colour blindness is caused by the
recessive allele found in the X
chromosome and most people with
colour blindness are males.
• In sex-linked inheritance research,
X and Y chromosomes must be
shown when writing the genotypes.
• Dominant allele is represented by a
capital letter whereas recessive
allele is represented by a small
letter on the X chromosome.
• Genotypes of colour blindness
inheritance are written as shown in
Table 11.4.
A man with normal eyesight marries a woman who is
heterozygous for colour blindness.
ISHIHARA TEST • Ishihara test is a famous colour blindness
screening test that has been used worldwide
since 1917.
• The test was developed by Shinobu
Ishihara (1879 - 1963), a Japanese
opthalmologist. It is invented to screen for
the common green-red colour blindness
defects.
• Individuals with normal eyesight can
identify the numbers or pattern in the
Ishihara test plates (Figure 11.20) whereas
individuals with colour blindness defects
would report wrong numbers or fail to
identify the numbers and patterns.
 D

Are you
colour
blindness E

???
Test your
eyes!! F
 • Haemophilia is a condition in which blood
cannot clot in normal circumstances due to
B. HAEMOPHILIA the lack of blood clotting factor.
• This can result in excessive internal or
external bleeding which may be fatal.
• Haemophilia is due to the presence of the
recessive allele in the X chromosome,
which causes the male to be haemophilic.
• The female will only be haemophilic if
both recessive alleles are present on both
X chromosomes.
 6. ABILITY TO ROLL TONGUE AND TYPES
OF EARLOBE

• The ability to roll tongue and the types of earlobes are two characteristics that can be
inherited from parents to children according to Mendel’s Law.
• Ability to roll tongue is a dominant trait.
• Free earlobe is a dominant trait whereas attached earlobe is a recessive trait.
 FAMILY PEDIGREE
• Family pedigree or lineage can
be analysed to investigate
inheritance of human
characteristics.
• Family pedigree is a flowchart
through a few generations to
show ancestral relationship and
inheritance of characteristics
from ancestors to individuals
in the present generation
• Analysis of family pedigree enables
the geneticist to predict an inherited
characteristic of interest and also to
identify the features of dominant or
recessive gene.
• Normally a dominant gene appears
in every generation whereas a
recessive gene is probably hidden
in certain generations.
THE END