CHAPTER 3

HEREDITY AND
VARIATION

3.1 CELL DIVISION

Genes

Genes are the basic units of

inheritance that determine the
characteristics of the individual.
Genes carry genetic information
from one generation to another.
Genes are located in long
molecules known as
deoxyribonucleic acid (DNA)

CHROMOSOMES

Are located in the nucleus

Carrying information that
determines our characteristic
Each chromosome is made up
from DNA

Relationship between gene,

chromosome, and DNA.

Type of Cell Division.

the processes of reproduction
and growth of any organism
involve cell division
there are two types, which is :
mitosis
meiosis

Mitosis

Is a type of cell division

which occurs in somatic cell.
Each cell divides into two part
identical daughter cells
Only occurs in somatic cell
but not in reproductive cells

Genetic content of the new

cells is the same as that the
parent cell.
The new cells have the same
number of chromosomes as
the parent cell

the importance of mitosis :

Increases the number of cells
during growth
Replace dead or damaged cells
Repairs injured cells

Meiosis

the process of cell division

to produce gametes
Contain half of the number
of chromosomes of the
parent cell.
occurs only in the
reproductive organs.

occurs in the testis of a

male and the ovary of
female who have attained
sexual maturity.
meiosis also occurs in the
anther and ovary of
plants.

the importance of meiosis :

The daughter cell have the same
number of chromosomes as parent cell
after fertilization has taken place
Genetic variation between the offspring
increases because of crossing-over
between the chromatids
The offspring produces will have
different characteristic because of
variation

Comparison between meiosis and

mitosis
call division
occurs
chromosome
replication
takes place

new cells
are
produced

Similarities

3.2: The principles and mechanism

inheritance

Dominant

Recessive

Genes

Dominant genes
are represented
by the letter T

are genes which show the characteristics that

they control when paired with a dominant gene
or a recessive gene.

the characteristics determined by this

genes are called dominant traits.

dominant traits are shown if one or both

dominant genes which control the
particular characteristics are present.

human traits controlled by this

genes

tall, curly hair, free ear lobe, black hair,

able to roll the tongue, dimples, long eye
lashes, right-handed, pigments in skin,
black or brown iris, normal eyesight

Recessive genes

are represented by the letter t.

are genes which only

show the characteristics
that they control when
these genes are paired
with another recessive
gene.

the characteristics
determined by this
genes are called
recessive traits.

recessive traits are only

shown if the recessive
genes are not paired
with dominant genes.

short, straight hair,

attached ear lobe, blond
hair, unable to roll the
tongue, no dimples,
short eye lashes, lefthanded, albino, blue iris,
colour-blindness

The dominant and recessive characteristic in

human
Dominant traits

Recessive traits

Black hair

Brown hair

Curly hair

Straight hair

Free ear lobes

Attached ear lobes

Able to roll the tongue

Unable to roll the tongue

Tall

Short

Black/ brown eyes

Blue eyes

Cheeks with dimples

No dimples on the cheeks

The mechanism of trait inheritance

Gregor Mendel (1822-1884)

was an Austrian scientist known
as the father of genetics
because he discovered the
principle of inheritance.

Genotype refers to the genetic

information found in the genes of
an organism
Phenotype refers to the physical
properties which can be seen in
organism.
The genotype of an organism
determines the phenotype of the
organism

PLEASE SEE VIDEO

combination of gametes at the first filial generation, F 1, can be

shown in the Punnett Square.

Gen

TT

Tt

Tt

tt

3.3 Sex Determination and the

occurrences of twins in human being

Sex Determination.
the sex of child is determined by the
father according to the type of sperm
that fertilises the ovum.
if a sperm that carries
the x chromosomes fertilises an ovum, a
baby girl is born.
the y chromosomes fertilises an ovum, a
baby boy is born.

the probability of having a male child or

female child is the same> 50 : 50

Occurrence of twins
in humans, normally one ovum fertilised
by one sperm to form one zygote which
will develop to form an embryo.
sometimes more than one embryo is
produced in a pregnancy.
twins - two babies born to a mother in a
pregnancy and generally at the
same time.
there are two types of twins identical
twins non-identical twins

Comparison between identical and

non-identical twins

Similarities
two babies born in a
pregnancy

Differences

Formation

Placenta

Identical Twins

Non-identical twins

Formed when an
ovum fertilised by
a sperm divides
into two to form
two similar
embryos.

Formed when two

ova are released
by the ovary at the
same time and
fertilised
separately by two
sperms to form
two different
embryos.

The two embryos

formed will grow in
one shared
placenta in the
mothers uterus.

The two embryos

formed when grow
in separate
placentas in the
mothers uterus

Same genetic
make-up.
Genetic Therefore,
make-up identical twins
have the same
appearance and
the same sex.

Sex

The sex of
identical twins
are the same.

Different
genetic makeup since they
originate from
two different
ova and sperms.
Therefore, nonidentical twins
have different
appearances.
The sex of nonidentical twins
may be the
same or
different.

sometimes the division of the embryo is

not complete, therefore Siamese twins
are formed.
Siamese twins may share certain organs
like brain, stomach, or heart and maybe
joined to one another at the head,
abdomen, breast, or buttocks.
they can be separated by surgery if they
do not share important organs like
brain, heart, kidneys, or lungs.

3.4 Mutation
is the spontaneous change to the
structure of genes or chromosomes of an
organism.
causes change of characteristics in a child.
occurs in somatic cells or in gametes.
the effect of mutation will be inherited by
one generation to another.
there are two types of mutation
gene mutations
chromosome mutations

Gene Mutations

involve changes in the structure of

gene.
gene mutations change or produce
the new genes to replace normal
genes.
genes that have undergone
mutation are called mutants.

Heredity disease
caused by gene
mutation
Albinism

Brief explanation

albinisms is caused by the change in

the gene that controls skin colour.
the newly produced genes are unable
to produce skin pigment.
the skin and hair of albinos are white
and their eyes are pink.

Albinism

Sickle cell
anaemia

sickle cell anaemia is a type of disease

caused by the change in the genes that
produce haemoglobin.
haemoglobin that has undergone
mutation is not efficient in
transporting oxygen.

Sickle cell anaemia

Colour-blindness is a sex-linked disease determined by

a recessive gene on the X
chromosome.
a colour-blind person cannot see or
differentiate the colours red and
green.

Colour-blindness

Haemophilia

caused by the deficiency if a type of

protein in the blood required for blood
clotting.
haemophilia is caused by the
deficiency of a type of protein in the
blood required for blood clotting.
haemophilia is a sex-linked disease
determined by a recessive gene on the
X chromosome.
a patient who has wound will
experience continuous bleeding or will
take a long time for the blood to clot
thus this condition way lead to death.

Haemophilia

Chromosome Mutations
involve changes in the number of chromosomes or
arrangement of genes in chromosomes.
sometimes, a portion of a chromosome may break
away and go missing, or become attached itself to
other chromosomes.
this causes the arrangement of a chromosome to
change and differ from normal.
the number of chromosomes can be increased or
decreased
chromosome mutations can cause hereditary
diseases like Downs syndrome, Klinefelters
syndrome, and Turners syndrome

Downs syndrome

this heredity disease is caused by

the presence of one extra
chromosome at chromosomes 21 in
the somatic cells.
incomplete separation of
chromosomes during meiosis
causes the zygote to have an extra
chromosome : 47 in total.

characteristics of a downs
syndrome patient :
slanting eyes
metal retardation
short fingers
wide distance between eyes
small mouth but big tongue
protruding tongue causing the
mouth to remain partially open

Klinefelters syndrome
a person who suffers from this
hereditary diseases has one extra
X chromosome : XXY

Turners syndrome

a person who suffers from this

hereditary lacks one X chromosome.
people with Turner;s syndrome have
only one sex chromosome which is XO.

Factors that cause mutation.

mutation can occur naturally, caused by
substances found in food or
environment.
agents causes mutations are called
mutagens.
chemical substances like pesticides,
nicotine in cigarettes, drugs, nitrous acid
and some preservatives, colouring and
artificial sweetener can cause mutation.

radiation
radioactive radiation can cause
mutation
gamma ray can affect growth and cell
division
ultraviolet rays and X-ray rays can
cause skin cells to mutate and this may
cause cancer

temperatures which are too high or

too low can also cause mutation.

Advantages and disadvantages

of mutation.
not all occurrences of mutation bring
adverse effects to organisms.
advantages of mutation
mutation causes variations in organisms which
allow them to adapt to the environment.
species that are more resistant to disease,
weather, and polluted environment can be
produced.

disadvantages of mutation
some mutations cause diseases like
colour-blindness and haemophilia
cannot be cured.
sometimes, disease like haemophilia
and sickle cell anaemia can cause
death.
Klinefelters syndrome causes
infertility.
mutation causes physical, mental, or
foestus retardation.