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Form 4 Science Chapter 3: Heredity and Variation

3.1 Cell division


All living organisms grow and reproduce & are made up of cells
Cells reproduce by dividing and passing on their genes to daughter cells
Each cell has its own nucleus which controls the cells activities through the
genetic material, DNA which acts as a set of instruction or code for life

What is genes?
Genes are sections of DNA that code for the production of protein and are
arranged along the chromosomes
Carry the inherited characteristics of a person
Genes occurs in pairs, therefore each inherited characteristics is carried by
two genes
One gene from each pair comes from the father and the mother
Example of inherited characteristics carried by genes are:
-

Colour of the eyes

Pattern of finger prints

Type of hair

Blood group

Intelligence

Deoxyribonucleic acids (DNA)


Is a double helix, made up of a series of genes to encode genetic information
This determine the individual characteristics of an organism
All the information in DNA is transmitted in the form of a genetic code
Should any information not be followed, the baby will be born with physical or
mental defects
DNA molecule is very complicated and resembles a twisted ladder or
staircase

Chromosomes
Is a thread-like structure found in the nucleus of a cell
Chromosome and the genes on them are composed of DNA

It exist in pair and are identicalhomologous


A pair of chromosomes has genes arranged in the same way. As a result the
genes also exist in pairs
Human has two sets of chromosomes in the body(one set from the father and
another set from the mother)

Mitosis
Occur in somatic cells all cells body except reproductive cells
Is the type of cell division that produces genetically identical cells
During mitosis, DNA replicates in the parent cell, which divides to produce
two new cells, each containing an exact copy of the DNA as in the parent cell
This allows growth of multicellular organism from unicellular zygotes
Replacements of cells and repair of tissues is possible through mitosis
followed by cell division
Cells are constantly dying and being replaced by identical cells
Is the basis of asexual reproductionthe production of new individuals of a
species by one parent organism

Mitosis is the type of cell division that produces genetically identical cells
During mitosis, DNA replicates in the parent cell, which divides to produce
two new cells, each containing an exact copy of the DNA as in the parent cell
Cells produced are diploid (2n)
Replacement of cells and repair of tissues is possible through mitosis (Ex: cell
replacement is rapid in the skin & in the lining of the gut
Is actively carried out at the ends of plant shoots and roots

Step 1
Chromosomes thicken and shorten, and become clearly visible
Each chromosome duplicates itself and forms two chromatids attached at the
centromere
The nuclear membrane disappears

Step 2
A fibrous spindle is formed between the chromosomes
Each chromosome is attached to a spindle by its centromere
The chromosome arrange themselves at the equator of the spindle

Step 3
The centromere of each chromosome splits into two
The chromatids separate and move to opposite poles.

Step 4
A nuclear membrane is formed around the chromosomes at each pole
The cell begins to divide and form two daughter cells
Each daughter cell has the same number of chromosomes as the parent cell
In a plant cell, the cytoplasm does not constrict. Instead a new cell wall is
developed across the cytoplasm

Importance of mitosis
Important for the following reasons:
(a) Growth
(b) Replacing old or damaged cells
Enables organisms to reproduce themselves (Ex: by asexual reproduction;
binary fission in amoeba)
Ensures that the new cells produced have the same number of chromosomes
as the parent cells

Meiosis
Meiosis is the process by which a nucleus divides by two divisions into four
nuclei, each containing half the number of chromosome of the mother cell
Resulting nuclei are haploid (n)
The cells produced are genetically different to the parent cell and to each
other
Occurs in 2 stages that is meiosis 1 and meiosis 2
Produces genetic variation (caused by crossing over between homologous
chromosome)
In animals, meiosis occurs in testes and ovaries, whereas in plants, it occurs
in the anthers and ovaries

Importance of meiosis
1. Production of gamete the only process that produces gametes
2. Reduction in chromosome number ensures that each gamete has only half
the number of chromosomes of the parent cell
3. Maintenance of chromosome number in somatic cells the somatic cells have
their number of chromosomes maintained
4. Production of variation causes genetic variation in the descendants(can
produce individuals who do not resemble their parents closely)
* Variation occurs in TWO ways:

1. Different combination of chromosomes


2. Crossing over

Comparing and contrasting mitosis with meiosis

Similarities of MITOSIS and MEIOSIS:


- Both are processes of cell division
- In each process, duplication of chromosomes occurs once
DIFFERENCES OF MITOSIS AND MEIOSIS
MITOSIS

DIFFERENCES

MEIOSIS

To produce new cells for


growth and repair of
damaged tissues

Aim of process

To produce gametes
(reproductive cells)

Somatic cells (non


reproductive cells)

Type of cell
involved

Reproductive cells which


produce gametes

Two daughter cells

Product

Four gametes

Nucleus of parent cells


divides once

Division of
nucleus

Nucleus of parent cell


divides twice

Duplication of
chromosomes takes place

Duplication of
chromosomes

Duplication of
chromosomes takes place
in the first cell division

Same as in parent cell,46

Number of
chromosomes in
daughter cells

Half the number of those in


the parent cell,23

Does not occur

Crossing over

Occurs when the


chromosomes are at the
equatorial plane

Same as in parent cell

Combination of
chromosomes

Different from that of the


parent cell

Does not cause genetic


variation

Genetic variation

Causes genetic variation

3.2 The Principles and Mechanism of Inheritance


Dominant Genes and Recessive Genes
Dominant Genes A gene which is powerful and can mask the effect of a less
powerful or recessive gene in a pair
Recessive Genes A weak gene and cannot show its effect if it is paired with
a dominant gene
Each pair of genes is represented by two letters, a capital letter used for a
dominant gene and a small letter for a recessive gene
Phenotype is to describe the physical traits and the physiological traits of a
person
Genotype is to describe the make-up or constitution of a person. Which
includes the genes from both parents either dominant or recessive.
Dominant Traits
Right Handed
Tall
Black/Curly Hair
Black/Brown eyes
With Ear lobes
Can Roll Tongue
Has Normal Vision
Has Dimples
Pigmented Skin
Long Eye Lashes

Recessive Traits
Left Handed
Short
Brown/Straight hair
Blue Eyes
Without Ear lobes
Cannot Roll Tongue
Color Blind
Has No Dimples
Non Pigmented Skin (Albino)
Short Eye Lashes

Monohybrid inheritance
Mendel chose true-breeding varieties of the garden pea as the parents
Mendel crossed a tall plant with a dwarf plant.
Progeny from this cross, called the F1 generation (first filial generation) were
all tall

All the F1 plants were then self-pollinated to obtain the F2 generation (second
filial generation)
The F2 generation included both tall and dwarf plants in the ratio of 3 tall to 1
dwarf(phenotype ratio)
It is shown that only the dominant(strong) trait appeared in the F1
generation.
The recessive (weak) trait is blocked by the strong trait from expressing itself
and is therefore hidden in the F1 generation

The mechanism of trait inheritance


The character of height is determined by two contrasting traits, tall and
dwarf.
The gene for tall is dominant while the gene for dwarf is recessive
If the gene for tall is represented by T and the gene for dwarf is
represented by t, there will be three genetic combinations(genotype) for
plant height
Genotype is the term used to describe the genetic make-up or constitution
of a person. It includes the genes inherited from both parents,whether they
are dominant or recessive
Phenotype is the physical traits such as colour of the eyes, height and ect..
3 possible combination are:
Phenotype

Genotype

Tall (pure strain)

TT (homozygous dominant)

Tall (monohybrid)

Tt (heterozygous)

Dwarf (pure strain)

tt (homozygous recessive)

3.3 Sex Determination and the occurrence of twins in


human beings
Sex Chromosome

Autosomes are chromosomes which are not sex chromosomes

The characteristic features of a person are determined by the autosomes

The sex of a person is determined by the sex chromosome

In a woman, the sex chromosomes are a pair of identical chromosomes called


X chromosomes

In a man, the sex chromosomes consists of one X chromosome and a smaller


Y chromosome

Therefore, chromosomes in female can be written as 44+XX while male as


44+XY

Mechanism of Sex Determination


Fathers sperm determine the sex of the baby
If the baby inherits Y chromosome from its father boy
If the baby inherits X chromosome from its fathergirl

THUS, the sex of the baby depends on which sperm fertilizes the egg
cell(ovum).

Identical and non-identical twins


(1) Identical twins
When an ovum is fertilized by a sperm, a zygote is formed
The zygote then divides into 2 separate cells in the womb producing 2
embryos identical twins
Identical twins are two normal, genetically identical individuals of the same
sex and share a common placenta during developmental stage
(2) Non-Identical twins
Some women may produce two ovum at the same time.
When the two different ovum are fertilized at the same time by two different
sperms, two zygotes are formed non-identical twins(fraternal twins)
Non-identical twins are genetically different individuals, can may be of the
same sex or different sex and each have their own placenta during
developmental stage

Comparing and contrasting identical twins with non-identical twins


(1) SIMILARITIES:
Two foetuses develop in the uterus at the same time
Two babies are born at the same time

(2) Differences
Identical twins

Differences

Non-Identical twins

One ovum and one sperm

No of
gametes
involved

Two ovum and two sperms

One ovum is fertilized and one


zygote is formed

Fertilization

Two ovum are fertilized and


two zygotes are formed

The single zygote divides into


two zygotes

Division of
zygote
formed

The two zygotes formed do


not divide

The two foetuses share one


placenta

Number of
placentas

The two foetuses have two


separate placentas

Have identical chromosomes and


genes

Chromosome
s and genes

Have different chromosomes


and genes

Have the same sex-both boys or


both girls

Sex of twins

The twins may have the same


sex or opposite sexes

The twins have similar


characteristic feature

Characteristi
c features

The twins have different


characteristic features

Siamese twins
Sometimes a zygote can not divides into two completely, so the two zygotes
are still linked to each other
The linked zygote develop into foetuses and are born as twins joined together
in some parts.
Siamese twins are identical twins that are formed when the two embryos do
not separate completely during the developmental stage and are attached to
one another

3.4 Mutation
Is a change in the amount or the chemical structure of DNA
Can occur spontaneously or induced by substances called mutagens
The new genetic material produced are called mutants
Mutation occur in gamete cell can be inherited
Mutation occur in somatic cell can only be inherited by daughter cells
produced by mitosis

Types of mutation
1. Chromosomal mutation

2. Gene mutation

1. Chromosomal mutation
Is the result of changes in the number or structure of chromosomes
Can cause changes in the characteristics of the organism
Changes in the no of chromosomes are usually the result of errors occurring
during meiosis or mitosis
These changes may involve the loss of a pair or a single chromosome, or the
increase in an entire haploid set of chromosomespolyploidy

Consequences of chromosomal mutation


1. Downs syndrome
Individuals suffering from Downs syndrome have 47 chromosomes
Additional chromosome is autosome no 21
Symptoms: mental retardation, reduced resistance to disease, congenital
heart abnormalities, a short stocky body, a thick neck and the characteristics
folds of skin over the inner corner of the eye
Termed as mongolism
2. Klinefelters syndrome
Have an extra X chromosome, so that the usual karyotype of XY is replaced
by one of XXY
Male with underdeveloped testis, infertility and some female characteristic
such as breast enlargement
3. Turners syndrome
Lack one X chromosome
Such women are XO, rather than the normal XX.
Have ovaries and breast that do not develop, do not experience the
menstrual cycle and do not ovulate

** Downs syndrome and other related chromosomal abnormalities occur more


frequently in children born to older women related to the age of the mothers egg
cells

2. Gene Mutation/point mutation


Is a change in the structure of the DNA at a single locus
Difficult to detect because physical changes on specific genes are not visible
and cannot be observed under a microscope
Often have undesirable effects but are sometimes beneficial to the mutant
organism
If gene mutation produces a beneficial phenotype, the frequency of the
mutation in the population will increase from generation to generation as a
result of natural selection
Consequences of gene mutation
1. Colour Blindness
Is a sex-linked recessive trait
Recessive gene for colour blindness is found on the human X chromosome
Most common form is red-green colour blindness(cannot distinguishes red &
green)
Females have pair of genes that control color blindness but male have only
one
If a male inherits one gene for CB,he has this disorder
Female can only has this disorder if she inherits two recessive genes,one from
each parent
2. Albinism
Occurs when the gene which is responsible for normal pigmentation
undergoes mutation
The gene responsible for albinism is recessive
Albino human beings are unable to produce the black pigment (melanin)
So, they have no distinct colour in their skin, hair or eyes

Causes of mutation
1. Radioactive substances
-

Radioactive radiation such as alpha, beta and gamma radiation

X-ray also can cause mutation

Can leads to cancer

Can change the structure of functions of gene and chromosome

2. High Intensity Ultraviolet Light


-

Ultraviolet from the sun can destroy the cells in the skin and cause mutation

Can leads to skin cancer

3. Chemical substances
-

Exposure of certain chemical substances like formaldehyde, pesticides,


benzene,nicotine

Can cause cancer and foetal deformity

4. Changes in environment
-

After a long period of time, changes in the environment can cause organisms
to adapt themselves and mutate into new species

These new species with their adapted or mutated features are most suitable
for living in the changing environment

Advantages and disadvantages of mutation


Advantages
1. Mutation produces genetic variation.
This can give rise to new species.

Disadvantages
1. Can cause genetic disorder such
as albinism and haemophilia
which can be passed on future

generations
2. Plants and animals mutate in
response to adverse changes in the
environment. Mutation gives them a
better chance to survive

2. Can cause abnormalities in children

Variation
Each person has unique features which enable you to differentiate him or her
from other friends
No two people are exactly the same
These differences among individuals in a population or a species are called
variation
The differences may be the result of genetic differences, the influences of the
environment, or a combination of genetic and environmental influences.
In human usually the character referred to are the physical characters such
as height, weight, skin colour, etc..
The differences in physiological processes such as our blood glucose level
and immunity level are also considered
There are two types of variation:
(1) Continuous variation
(2) Discontinuous variation
Continuous Variation
The characteristics can be measured or graded on a scale such as human
heights, weight,skin colour, etc..
Cannot be grouped into distinct and discrete phenotypes
Usually quantitative (they can be measured) and are determined by genes
and influenced by environmental factors.
In *CV, a normal distribution curve is obtained

From the distribution curve, it can be seen that individuals show gradual
difference from one extreme to another extreme
There are very few individuals who are very short or very tall
Most of them are of average height

Discontinuous variation
The characters are discrete and cannot be measured or graded on a scale
such as ABO blood group, color blindness, presence or absence of
earlobe,etc..
Are qualitative(they cannot be measured or graded)
usually determined by a single gene with distinct effect.
Discrete distribution is obtained

The differences of continuous variation and discontinuous variation

Factors that cause variation

Importance of variation

Causes natural differences in appearance among individuals of the same


species enables us to identify different individuals
Improves the ability to survive in a changing environment
Gives rise to a large variety of plants and animals.