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Inheritance

Keywords Mendel’s Application Application : to

mankind
Law

Genetic engineering Human

ML I ML II genom
project
b b
Blood Rhesus Sex Sex linked DNA
group factor determination diseases fingerprinting
system
Stem cell
research
Duchene Muscular Dystrophy Colour blindness Haemophilia
THEME: VARIATION AND INHERITANCE
LEARNING AREA: 1.0 INHERITANCE

 Learning Objectives: 1.2 Understanding inheritance

 Learning Outcomes: A student is able to:
1. State the blood groups in the ABO system and Rhesus
factor in Human
2. Explain the inheritance of ABO blood groups in Human
3. Differentiate autosomes from sex chromosomes
4. Identify the different human karyotypes
5. Explain sex determination in offsprings
6. Explain sex-linked inheritance using examples
7. Describe hereditary disease
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1.The ABO SYSTEM: Multiple alleles
 An individual has two copies of each gene, so can only
have two alleles of any gene, but there can be more
than two alleles of a gene in a population.
 An example of this is blood group in humans.
 The red blood cell antigen is coded for by the gene I
(for isohaemaglutinogen), which has three alleles IA, IB
and IO. (They are written this way to show that they are
alleles of the same gene.)
 IA and IB are codominant, while IO is recessive. The
possible genotypes and phenotypes are:

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1.The ABO SYSTEM: Multiple alleles

antigens on
Phenotype plasma
Genotypes red blood
(blood group) antibodies
cells

A IAIA, IAIO A anti-B

B IBIB, IBIO B anti-A
AB IAIB A and B None
anti-A and anti-
O IOIO none
B
The cross below shows how all four blood groups can arise from a
cross between a group A and a group B parent.

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1.The ABO SYSTEM: Multiple alleles

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1.The ABO SYSTEM: Multiple alleles

 Other examples of multiple alleles are: eye colour in

fruit flies, with over 100 alleles; human leukocyte
antigen (HLA) genes, with 47 known alleles.
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2.The Rhesus Factor
 Is a group of antigens in RBC.
 This antigen will cause agglutination when it is reacts
with antibodies from individual without this antigen
 Rhesus factor is controlled by a pair of alleles. Rh allele
and rh allele
 Rh positive= individual who has the Rhesus factor/
Genotype= Rh- Rh/ Rh- rh
 Rh negative= individual who did not has the Rhesus
factor/ Genotype= rh- rh
 Rh allele dominant to the rh allele
 Follows Mendel’ First law/
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 2.The Rhesus Factor

 Rh positive has genotype of Rh- Rh @ Rh-rh

 Rh negative rh-rh
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2.The Rhesus Factor

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Chromosomes

r
R Alleles
Different genes that
control the same
feature

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 Chromosome Number
 All cells in the human body
(SOMATIC CELLS) have 46 or 23
pairs of chromosomes
 Called the DIPLOID or 2n number
 GAMETES (eggs & sperm) have
only 23 chromosomes
 Called the MONOPLOID or 1n
number
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 Nondisjunction
 Chromosomes may fail to separate
during meiosis
 Resulting gametes may have too
few or too many chromosomes
 Disorders:
 Down Syndrome – three 21st chromosomes
 Turner Syndrome – single X chromosome
 Klinefelter’s Syndrome – XXY chromosomes

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Nondisjunction

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Normal Male

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2n = 46 17
Normal Female

2n = 46
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Male, Trisomy 21 (Down’s)

2n = 47
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Female Down’s Syndrome

2n = 47
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Klinefelter’s Syndrome XXY

2n = 47
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Klinefelter’s syndrome

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Turner’s Syndrome

2n = 45
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Turner syndrome XO

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Jacobs Syndrome.XYY
A chromosome
aberration which is
caused by
nondisjunction of the
Y chromosome
during the anaphase
II giving a 47 XYY
karyotype.
Occurence is 1/1000
live male births. Men
with this karyotype
are tall and have low
mental ability.

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Jacob’s Syndrome
 Cause: 47,XYY is not inherited, but usually occurs as a
random event during the formation of sperm cells. An
error in chromosome separation during anaphase II (of
meiosis II) called nondisjunction can result in sperm
cells with an extra copy of the Y chromosome.
 If one of these atypical sperm cells contributes to the
genetic makeup of a child, the child will have an extra Y
chromosome in each of the body's cells.
 In some cases, the addition of an extra Y chromosome
results from nondisjunction during cell division during a
post-zygotic mitosis in early embryonic development.
 This can produce 46,XY/47,XYY mosaics.
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Cri Du Chat Syndrome

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Cry due Chat Syndrome
 Chromosomal disease that resulted from the deletion
of variable sizes in the short arm of chromosome 5
(Orphanet).
 Deletions can range from a small size only involving
the 5p15.2 sub-band to the entire short arm of the
chromosome
 CdCS is a rare genetic disease that occurs in a range
from 1:15,000 to 1:50,000 of live-born infants.

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Cry due Chat Syndrome
 ▪ Because of the variability of the deletion that occurs
in the 5p arm, numerous abnormalities exist in the
phenotype of this syndrome. These abnormalities
include:
A sound clip of the cat-like cry...
high-pitched cry sounds like a cat (for which the syndrome was named)
low birth weight and slow growth
small head (microcephaly)
wide-set eyes (hypertelorism)
downward slant to the eyes (palpebral fissures)
small jaw (micrognathia)
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Cry due Chat Syndrome

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Edward Syndrome

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Edward Syndrome
 a) Selalunya gugur (abort) sebelum lahir. Kalau ada live birth pun, 1 :
3000 je.
 b) Tangan - clenced hands + overlapping fingers.
 c) Mulut, kepala kecil.
 d) Leher pendek.
 e) Time baby - nanges lemah je (weak crying).
 e) Omphalocele - bila lahir je, usus kat luar badan.

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 3.Sex Determination

 Sex is determined by the sex chromosomes (X and Y).

 Since these are non-homologous they are called
heterosomes, while the other 22 pairs are called
autosomes.
 In humans the sex chromosomes are homologous in
females (XX) and non-homologous in males (XY), though in
other species it is the other way round.
 The inheritance of the X and Y chromosomes can be
demonstrated using a monohybrid cross:

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3.Sex Determination

•This shows that there will always be a

1:1 ratio of males to females.
• Note that female gametes (eggs)
always contain a single X
chromosome, while the male gametes
(sperm) can contain a single X or a
single Y chromosome..

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 3.Sex Determination

•Sex is therefore determined solely by

the sperm
•There are techniques for separating
X and Y sperm, and this is used for
planned sex determination in farm
animals using IVF

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4.Sex Linkage

 Three types of Sex linkage

1) Color Blindness
2) Haemophilia
3) Duchene Muscular Dystrophy

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4. Sex Linkage
The X and Y chromosomes don’t just determine
sex, but also contain many other genes that have
nothing to do with sex determination.
The Y chromosome is very small and seems to
contain very few genes, but the X chromosome is
large and contains thousands of genes for
important products such as
1. rhodopsin (a protein in the membrane of a
photoreceptor cell in the retina of the
eye),color blindness
2. blood clotting proteins- Haemophilia
3. muscle proteins-Duchene Muscular Dystrophy
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4.Sex Linkage
Females have two copies of each gene on
the X chromosome (i.e. they’re diploid), but
males only have one copy of each gene on
the X chromosome (i.e. they’re haploid).

 This means that the inheritance of these

genes is different for males and females, so
they are called sex linked characteristics.

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4.Sex Linkage
Males always inherit their X chromosome
from their mothers, and always pass on their
X chromosome to their daughters.

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 • Another well-known
example of a sex-
linked characteristic
is colour blindness in
humans.
• 8% of males are
colour blind, but only
0.7% of females.
• The genes for green-
sensitive and red-
sensitive rhodopsin
Color blindness are on the X
chromosome, and
mutations in either of
these lead to colour
blindness.
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Haemophilia
 Hereditary disease that
can be transmitted from
parents to their offspring.
 Is a hereditary sex- linked
disease caused by a
recessive alleles found on
the X chromosome.
 When there is an injury,
the blood clots very slowly
because a lack of the
blood clotting factors.
 Leads to the excessive loss
of the bloods
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Haemophilia
 The sex-linked trait affect male more than females
 In a female, if only one X chromosome carries the
recessive allele, its effects will be masked by the dominant
allele on the other X- chromosome.
 These heterozygous females (XHXh) are carriers.
 They do not suffered from the disease but may pass the
recessive allele on to their offspring.
 The female can only inherits the disease if she inherits
both the recessive alleles (XhXh)from their parents
 However, male need to have only one recessive allele,
(XhY) to inherit Haemophilia.

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Muscular dystrophy
 Muscular
Dystrophy
 Gradual,
Progressive Muscle
Loss
Muscular dystrophy
 Muscular dystrophy is a condition in which muscles,
month by month and year by year, get weaker and
weaker. Because the disability gradually gets worse,
we say it is 'progressive'
Muscular dystrophy
 HOW TO RECOGNIZE IF MUSCLE WEAKNESS IS CAUSED BY MUSCULAR
DYSTROPHY
 Mostly affects boys (rarely girls).
 Often brothers or male relatives have same problem.
 First signs appear around ages 3 to 5: the child may seem
awkward or clumsy, or he begins to walk 'tiptoe' because he
cannot put his feet flat. Runs strangely. Falls often.
 Problem gets steadily worse over the next several years.
 Muscle weakness first affects feet, fronts of thighs, hips, belly,
shoulders, and elbows. Later, it affects hands, face, and neck
muscles.
 Most children become unable to walk by age 10.
 May develop a severe curve of the spine.
 Heart and breathing muscles also get weak. Child usually dies
before age 20 from heart failure or pneumonia
 Early common
sign of muscular
dystrophy
 To get up from the
ground, the child
'walks up' his
thighs with his
hands.
This is mainly
because of weak
thigh muscles.


QUESTIONS ABOUT MUSCULAR DYSTROPHY
 How common is it? It is not very common.
Rehabilitation centers may see one child with
muscular dystrophy for every 30 or 40 with
cerebral palsy or polio.
 What causes it? Nobody knows. But in 2 out of 3
families with muscular dystrophy, there is a history
of it among male relatives of the mother. Though
the parents are usually normal, the mother carries
the 'gene' that produces dystrophy in her sons. Her
daughters will develop normally, but they may
have sons with muscular dystrophy.
Baldness (Dominant Sex-
linked)

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4.Sex Linkage
The diagram below shows two crosses
involving colour blindness, using the
symbols XR for the dominant allele
(normal rhodopsin, normal vision) and Xr
for the recessive allele (non-functional
rhodopsin, colour blind vision).

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Huntington’s Disease
Cystic Fibrosis
Albinism
Sickle Cell Anaemia
Thalassaemia
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 Huntington's Disease
 Onset & Symptoms:
 Personality changes
 Forgetfulness
 Involuntary movements
 Begins in middle adulthood
 Progresses over 15-20 years
 Leads to loss of motor control and intellectual
function
 Treatments:
 Nothing known to slow or stop the decline
 Prevalence:
 1 in 20,000 people
 Famous People with the Disease:
 Woody Guthrie
 Heritability & Environmental Factors:
 Caused by a dominant allele
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Other Hereditary Diseases
 Hereditary disease is caused by an allele inherited from the parents. It
is passed down from one generation to the next.

Huntington’s Disease
Huntington's disease (HD) results from the mutation of an autosomal
dominant gene which is located on chromosome 4. It leads to of brain
cells, called neurons, in certain areas of the brain. This degeneration
causes uncontrolled movements, loss of intellectual faculties, and
emotional disturbance.
Each child of an HD parent has a 50-50 chance of inheriting the HD
gene. If a child does not inherit the HD gene, he or she will not develop
the disease and cannot pass it to subsequent generations. A person who
inherits the HD gene will sooner or later develop the disease(30 to 50
years old).
Cystic Fibrosis

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Cystic Fibrosis
 A defective gene and its protein
product cause the body to
produce unusually thick, sticky
mucus that:
clogs the lungs and leads to life-
threatening lung infections; and
obstructs the pancreas and stops
natural enzymes from helping
the body break down and absorb
food.
This disease is caused by the
presence of the cystic fibrosis
gene, an autosomal recessive
gene, which is located on
chromosome number 7.

Cystic fibrosis patient’s lungs

Cystic Fibrosis
 Cystic Fibrosis, incurable hereditary
disorder that causes the body to secrete an
abnormally thick, sticky mucus that clogs
the pancreas and the lungs, leading to
problems with breathing and digestion,
infection, and ultimately, death.
 Three decades ago most babies born with
cystic fibrosis died in early childhood, but
advances in diagnosing and treating the
disease have significantly improved its
prognosis.
 Today more than 60 percent of babies born
with cystic fibrosis reach adulthood, and
further advances,, particularly in the field
of gene therapy, may produce even better
treatments in the coming years.

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Sickle Cell Anaemia
 Sickle cell anemia is a disease
passed down through families in
which red blood cells form an
abnormal crescent/ sickle shape.
 (Red blood cells are normally
shaped like a disc.)
 These fragile, sickle-shaped cells
deliver less oxygen to the body's
tissues.
 They can also clog more easily in
small blood vessels, and break into
pieces that disrupt healthy blood
flow.
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Sickle-cell anaemia

 Sickle cell anemia (sickle cell disease) is a

disorder of the blood caused by an
inherited abnormal hemoglobin (an
oxygen-carrying protein within the red
blood cells). The abnormal hemoglobin
causes distorted (sickled;”C shape”) red
blood cells
 The sickled red blood cells are fragile
and prone to rupture.
 Sickle-shaped cells don’t move easily
through blood. They’re stiff and sticky
and tend to form clumps and get stuck
in blood vessels.
 The clumps of sickle cells block blood
flow in the blood vessels that lead to the
limbs and organs. Blocked blood vessels
can cause pain, serious infections, and
organ damage.
Thalassemia
 Thalassemia is an inherited blood
disorder in which the body makes too
much hemoglobin, the protein in red
blood cells that carries oxygen.
 The disorder results in excessive
destruction of red blood cells and
anemia.
Severe thalassemia can cause early
death due to heart failure a. Frequent
blood transfusions with therapy to
remove iron from the body helps
improve the outcome.

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 Thalassaemia
 Thalassaemia is the name
given to a group of
inherited blood disorders
that affect the body's
ability to create red blood
cells.
 This disease is caused by a
recessive gene which leads
to the synthesis of
abnormal haemoglobin in
red blood cells
Albinism
 Albinism is a defect of melanin production
that results in little or no color (pigment) in
the skin, hair, and eyes.
 The most severe form of albinism is called
oculocutaneous albinism. People with this
type of albinism have white or pink hair,
skin, and iris color, as well as vision
problems.

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