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BIOLOGY FORM 5 NOTES CHAPTER 5 : INHERITANCE

CHAPTER 5: INHERITANCE

5.1 CONCEPT OF INHERITANCE BASED ON MENDELS EXPERIMENT

1. Genetic Science which is more systematic began in the middle of 19 th Century


based on principles and evidence from experiments that conducted by Gregor
Mendel.

2. Mendels experiments (Monohybrid Inheritance)


a. Mendel cross-pollinated the pea plants manually by brushing pollen
from the tall pea plants onto the stigma of short pea plants. (Parental
generation / P generation)
b. He collected the seeds and planted them.
c. All the seeds grew to become tall plants. (First filial generation /
F1generation)
d. When he planted the seed of the F1 generation, and the plants are
allowed to self-pollinated.
e. The seeds are collected and produced the second filial generation,
F2generation.
f.

Three quarter of the offsprings were tall and one quarter were short.
The ration of tall to short is 3:1

3. Conclusions from Mendels experiments:


a. There exist hereditary factors within each organism.
b. Each characteristic is controlled by a pair of factor.
c. During the formation of gametes, the two factors separate and each
gamete contain only one factor.
d. These factors may be dominant or recessive.

e. If two factors differ, the factor that shows up its effect is dominant
while the other is recessive.

4. Schematic diagram of a monohybrid cross.

Punnet square:

1. Mendels First Law or Law of segregation:

The characters of a diploid organism are determined by alleles which occur in


pairs. The two alleles of a gene separate or segregate from each other during
the formation of gametes. 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 from its female parent.

2. Terms used in genetic:

Term

Meaning

Characteristics

A distinctive feature of an organism that can be


inherited from generation to generation.
Example: height

Trait

The variant for a specific characteristic.


Example: short or tall

Gene

The basic unit of inheritance that determine a


particular characteristic in an organism

Allele

One of the two alternative forms of a gene that


occupied the same locus on the homologous
chromosomes.

Dominant allele

The allele that expresses itself and display the


dominant trait of the characteristic when both
alleles are dominant or at least one dominant
allele is present.

Recessive allele

The allele that expresses itself in the absence of a


dominant allele.

Phenotype

The physical appearance of an organism, which is


an observable characteristic.

Genotype

The genetic composition or the genetic content of


an organism.

Homozygote

The organism with two identical alleles for a


particular characteristic.

Heterozygote

The organism with two different alleles for a


particular characteristic

Homozygous
dominant

Pair of identical dominant alleles

Homozygous
recessive

Pair of identical recessive alleles

Heterozygous

Pair of different alleles, one dominant and one

recessive
Purebred

A population of organisms which has a particular


trait that remained unchanged for many
generation.

3. Dihybrid Inheritance
(a) A dihybrid inheritance is the inheritance involving a cross between two parents
that differ in two characteristics.
(b) Mendel crossed pure breeds of tall pea plants which produced round seeds with
short pea plants which produced wrinkled seeds.
(c) All the F1 generation offsprings were tall plants with round seeds.

(d) The F1 hybrid plants were allowed to self-pollinated. The seeds formed were then
planted. These produced the F 2 plants.

Phenotype ratio:

Tall, round seeds:Tall, wrinkled seeds:Short, round seeds:Short, wrinkled seeds


=

Mendels Second Law Of Inheritance Or The Law Of Independent


Assortment:
Two or more pairs of alleles segregate independently of one another during the
formation of gametes. Therefore, traits are inherited by the offspring independent of
one another.

5.1 INHERITANCE OF TRAITS IN HUMANS

1.

Human blood groups and genotypes

Blood group (Phenotype)

Possible Genotype

Blood group A

IAIA or IAIO

Blood group B

IBIB or IBIO

Blood group AB

IAIB

Blood group O

IOIO

Allele IA and IB are dominant. AlleleIO is recessive.


Allele IA and IB show codominance.

CASE 1: Father of blood group A (homozygous) married with mother of blood group
B (homozygous)

If fathers blood group is A (homozygous), the genotype of the father is ____________.


If mothers blood group is B (homozygous), the genotype of the mother is
____________. Gamete of the father contains _______ while gamete of the mother
contains _______. If gamete of the father contains _______ fuses with gamete of the
mother contains_______ during fertilization, the genotype of the offspring formed is
___________ and the blood group is ___________.

________% of the offspring formed have blood group ________.

CASE 2: Father of blood group A (heterozygous) married with mother of blood group
B (heterozygous)

If fathers blood group is A (heterozygous), the genotype of the father is


____________. If mothers blood group is B (heterozygous), the genotype of the
mother is ____________. Gamete of the father may contain _______ or ________ while
gamete of the mother may contain _______ or ________. If gamete of the father
contains _______ fuses with gamete of the mother contains_______ during
fertilization, the genotype of the offspring formed is ___________ and the blood group
is ___________. If gamete of the father contains _______ fuses with gamete of the
mother contains_______ during fertilization, the genotype of the offspring formed is
___________ and the blood group is ___________. If gamete of the father contains
_______ fuses with gamete of the mother contains_______ during fertilization, the
genotype of the offspring formed is ___________ and the blood group is ___________. If
gamete of the father contains _______ fuses with gamete of the mother
contains_______ during fertilization, the genotype of the offspring formed is
___________ and the blood group is ___________.

________% of the offspring formed have blood group ________.


________% of the offspring formed have blood group ________.
________% of the offspring formed have blood group ________.
________% of the offspring formed have blood group ________.

CASE 3: Father of blood group AB married with mother of blood group O

1.

The antigen and the antibodies present in the different blood groups

Phenotype
(blood
group)

Antigens on
red blood
cells

Antibodies
present in the
blood serum

Can
donate
blood to
blood

Can receive
blood from
blood
groups

groups
A
B
AB
O

2.
-

The Rhesus Factor


The Rhesus factor is an antigen present on the surface of red blood cells.

The Rhesus factor is controlled by a pair of alleles: the Rh allele and the rh
allele.
-

The Rh allele is dominant and the rh allele is recessive.

If an individual has the Rhesus factor, he is known as Rh-positive (Rh+). The


genotype of a Rh-positive individual can be either homozygous dominant (Rh-Rh) or
heterozygous (Rh-rh)
If an individual does not have the Rhesus factor, he is known as Rh-negative
(Rh-). The genotype of a Rh-negative individual is homozygous recessive (rh-rh)

CASE 1: A man with homozygous Rh-positive marries a woman who is Rh-negative.


What are the chances of their children being Rh-negative?

If father is homozygous Rh-positive, the genotype of the father is ____________. If


mother is Rh-negative, the genotype of the mother is ____________. Gamete of the
father contain _______ while gamete of the mother may contain _______ .If gamete of
the father contains _______ fuses with gamete of the mother contains_______ during
fertilization, the genotype of the offspring formed is ___________ and the offspring is
____________________.

________% of the offspring formed are ____________________.


________% of the offspring formed are ____________________.

CASE 2: A man with heterozygous Rh-positive marries a woman who is Rh-negative.


What are the chances of their children being Rh-negative?

If father is heterozygous Rh-positive, the genotype of the father is ____________. If


mother is Rh-negative, the genotype of the mother is ____________. Gamete of the
father may contain _______ or _______ while gamete of the mother may contain
_______ .If gamete of the father contains _______ fuses with gamete of the mother
contains_______ during fertilization, the genotype of the offspring formed is
___________ and the offspring is ____________________. If gamete of the father contains
_______ fuses with gamete of the mother contains_______ during fertilization, the
genotype of the offspring formed is ___________and the offspring is
____________________.

________% of the offspring formed are ____________________.


________% of the offspring formed are ____________________.

1. The Rhesus factor can be a problem when a Rh-negative person receives Rhpositive blood during a blood transfusion.
-

Usually the first transfusion does not result in any reaction.

Is subsequent transfusion, the recipients blood reacts by producing Rhesus


antibodies.
The Rhesus antibodies result in agglutination of the donors blood in the
recipient and this may lead to death.

2. The Rhesus factor can also be a problem when a Rh-negative mother has more
than one Rh-positive baby.

During the later stages of the first pregnancy, fragments of the Rh-positive red
blood cells of the foetus may enter the mothers blood circulation.
This cause the mothers immune system to react by producing Rhesus
antibodies.
Normally, the amount of the antibodies formed is not sufficient to cause any
effect on the first born.
However, if in a subsequent pregnancy, the foetus is also Rh-positive, the
Rhesus antibodies of the mother may enter the foetuss blood circulatory system
and agglutinate its red blood cells.
The second baby will die if its blood is not replaced with Rh-negative blood in a
blood transfusion or given an intravenous injection of anti-rhesus antibodies.

1.
-

Autosome and Sex Chromosomes


There are two types of chromosomes:

(c) Autosomes: control characteristics of an organism except sex.


(d) Sex chromosomes: determine the sex of an organism
In humans, there are 46 chromosomes, 44 of which are autosomes and two are
sex chromosomes (XY for males and XX for females)

2.

Determination of the sex of a child

In human, the somatic cells of a male have 44 autosomes and sex


chromosomes X and Y. During the formation of gamete, the number of
chromosomes is halved. Every sperm has only 22 autosomes and one sex
chromosome, either X or Y.
The somatic cells of a female have 44 autosomes and two sex chromosomes of
X. During the formation of gamete, the number of chromosomes is halved. Every
ovum has only 22 autosomes and one sex chromosome X.

During fertilization, if a sperm with ____________chromosomes fertilizes an


ovum with ____________chromosomes, the child that is formed has
_____________chromosomes, it is a ___________child.
If a sperm with ______________chromosomes fertilizes an ovum with
____________chromosomes, the child that is formed has __________ chromosomes, it is
a _________ child.
-

3.

The probability of having a male and a female child is _____________.

Hereditary Disease

Hereditary diseases are genetic diseases that the offspring inherit from their
parents.
-

There are hereditary diseases that are caused by defective genes

linked to X chromosomes

located on the autosomes

4.

Sex-linked inheritance

There are some characteristics that are controlled by genes located in the sex
chromosomes, especially on the X chromosomes.
-

This characteristic is called sex-linked characteristic.

The inheritance of such characteristic is called sex-linked inheritance.

The genes on the sex chromosomes are celled sex-linked genes.

Examples of sex-linked diseases that can be transmitted from the parents to


their offspring:
Haemophilia
Colour blindness
Muscular dystrophy

(c) Haemophilia
-

It is a disease where the blood clots very slow when there is an injury.

This is because the patient is lack of blood-clotting factors, which will result in
excessive blood loss.
-

Haemophilia is caused by a recessive allele (h) located on the X chromosome.

The dominant allele for normal bloot clotting = XH

The recessive allele for haemopilia = Xh


-

The genotype for the blood clotting characteristic:

XH XH = Female, homozygous dominant for normal blood clotting


XH Xh = Female, heterozygous dominant for normal blood clotting, but she is a
carrier because there is one recessive allele on her X chromosome which can be
inherited by her offspring.
Xh Xh = Female, homozygous recessive for haemophilia
XH Y = Male, with normal blood clotting

Xh Y = Male, with haemophilia

CASE 1: Male with normal blood-clotting married with female carrier of haemophilia

The genotype for male with normal blood-clotting is ____________. The genotype for
female carrier of haemopilia is ____________. The gamete of the male with normal
blood-clotting is __________ or __________. The gamete of the female with normal
blood-clotting is __________ or __________. During fertilization, if gamete of the father
contains _______ fuses with gamete of the mother contains_______, the genotype of
the offspring formed is ___________ and the offspring is
_______________________________________. If gamete of the father contains _______
fuses with gamete of the mother contains_______, the genotype of the offspring
formed is ___________ and the offspring is _______________________________________. If
gamete of the father contains _______ fuses with gamete of the mother
contains_______, the genotype of the offspring formed is ___________ and the
offspring is _______________________________________. If gamete of the father contains
_______ fuses with gamete of the mother contains_______, the genotype of the
offspring formed is ___________ and the offspring is
_______________________________________.

The probability of having a female child who is normal for blood clotting is ________
%. The probability of having a male child who is normal for blood clotting is ________
% and a male haemopiliac child is ______ %.

CASE 2: Male with normal blood-clotting married with female haemophiliac.

(b) Colour blindness

It is a condition in which a person cannot distinguish certain colours. The most


common form of colour blindness is red-green colour blindness which is the inability
to differentiate between red and green colours.
Colour blindness is caused by a recessive allele (b) located on the X
chromosome.

The dominant allele for normal colour vision = X B

The recessive allele for colour blindness = Xb


-

The genotype for the blood clotting characteristic:

XB XB = Female, homozygous dominant for normal vision


XB Xb = Female, heterozygous dominant for normal vision, but she is a carrier
because there is one recessive allele on her X chromosome which can be inherited
by her offspring.
Xb Xb = Female, homozygous recessive for colour blind
XB Y = Male, with normal vision
Xb Y = Male, with colour blind

CASE 1: Male with colour blind married with female carrier of colour blindness

The genotype for male with colour blind is ____________. The genotype for female
carrier of colour blindness is ____________. The gamete of the male with colour blind
is __________ or __________. The gamete of the female carrier of colour blindness is
__________ or __________. During fertilization, if gamete of the father contains _______
fuses with gamete of the mother contains_______, the genotype of the offspring
formed is ___________ and the offspring is _______________________________________. If
gamete of the father contains _______ fuses with gamete of the mother
contains_______, the genotype of the offspring formed is ___________ and the
offspring is _______________________________________. If gamete of the father contains
_______ fuses with gamete of the mother contains_______, the genotype of the
offspring formed is ___________ and the offspring is
_______________________________________. If gamete of the father contains _______
fuses with gamete of the mother contains_______, the genotype of the offspring
formed is ___________ and the offspring is _______________________________________.

The probability of having a female child who is normal for colour vision is ________
%. The probability of having a male child who is normal for colour vision is ________
% and a male colour-blind child is ______ %.

CASE 2: Male with normal colour vision married with colour-blind female.

1.

(c)

Other hereditary disease

Albinism

Albinism is caused by a defective allele which is involved in the synthesis of


melanin pigment.
The gene for melanin pigment synthesis is isolated in an autosome and is
mutated.
The pigment cells from the skin, hair and iris are unable to synthesis melanin.
Thus, these affected body parts lack melanin pigment.

Case: A man with albinism married a normal woman. What are the changes for
them to have a child with albinism?

A=
a=

(c)

Sickle cell anemia

This hereditary disease is caused by a defective allele which is involved in the


synthesis of haemoglobin.

The gene of haemoglobin synthesis is located in an autosome and has


undergoes mutation.
The red blood cells form defective haemoglobin that cause the red blood cells to
be in the shape of a sickle.
The abnormal haemoglobin then causes the red blood cells to transport less
oxygen, resulting anemia. This sickle-shaped red blood cells are more fragile and
can break easily and then aggregate together to clog the blood capillaries.

(c)

Thalassaemia

Thalassaemia is a blood disorder that disrupts the production of haemoglobin


in red blood cells.
The disease is caused by a recessive allele which causes abnormal
haemoglobin to be produced.
Individuals with thalassaemia have either one or both parents suffering from
thalassaemia. When one parent has the disease, the child will suffer from
thalassaemia minor. When both parents have the disease, the child will suffer from
thalassaemia major.
The symptoms range from mild to severe anemia. The most common symptom
for thalassaemia minor is long-term anemia. Symptoms for thalassaemia major
include paleness, jaundice and enlarged spleen, liver and heart.
Thalassaemia can be diagnosed through blood test. Those with thalassaemia
may need regular blood transfusions. The treatment generally will lead to iron
overload. Consequently, a therapy is needed to reduce the excess iron in the body.
Another treatment for thalassaemia major is a bone marrow transplant.

Case 1: A male with normal red blood cells married a woman with thalassaemia.

Case 2: A male with thalassaemia carrier married a woman with thalassaemia


carrier

Case 3: A male with thalassaemia carrier married a woman with thalassaemia

5.1 GENES AND CHROMOSOMES

1.
-

Genes
A gene is a basic unit of inheritance.

A gene contains genetic information which determines a particular


characteristic in an organism.
It can exist in different forms called alleles, that will determine the traits of an
organism.
-

2.
-

A gene occupies a specific position (locus) in a chromosome.

Chromosomes
Chromosomes are threadlike structures in the nucleus of a cell

Each chromosome is make up of a long DNA molecule coiled around protein


molecules called histones.
Genes are located in the DNA molecule. It is a sequence of nitrogenous base in the
nucleotides of DNA which forms a particular sequence of genetic code.

1.

Structure of DNA

DNA is a type of nuclei acid.

A DNA molecule is made up of basic units called nucleotides.

A nucleotide is made up of a deoxyribose sugar, a nitrogenous base and a


phosphate group.

There are four different types of bases: Adenine (A), Thymine (T), Cytosine (C)
and Guanine (G). Hence, there are four different types of nucleotides.
Each nucleotide is joined to the next nucleotide through the phosphate group
to form a long polynucleotide strand.
A DNA molecule consists of two polynucleotide strands which are linked together at
the nitrogenous base by hydrogen bond.

The sequence of nitrogenous base in a DNA molecule is called a gene.

Based on the model of DNA molecule proposed by Watson and Crick, a DNA
molecule consists of two polynucleotide strands coiled together, forming a double
helix.

A schematic diagram to show how a trait is manifested from the basic unit of
inheritance.

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