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 cell’s 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 identicalhomologous

 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 reproductionthe 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 Aim of process To produce gametes

growth and repair of (reproductive cells)
damaged tissues

Somatic cells (non Type of cell Reproductive cells which

reproductive cells) involved produce gametes

Two daughter cells Product Four gametes

Nucleus of parent cells Division of Nucleus of parent cell

divides once nucleus divides twice

Duplication of Duplication of Duplication of

chromosomes takes place chromosomes chromosomes takes place
in the first cell division

Same as in parent cell,46 Number of Half the number of those in

chromosomes in the parent cell,23
daughter cells

Does not occur Crossing over Occurs when the

chromosomes are at the
equatorial plane

Same as in parent cell Combination of Different from that of the

chromosomes parent cell

Does not cause genetic Genetic variation Causes genetic variation

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 Recessive Traits

Right Handed Left Handed
Tall Short
Black/Curly Hair Brown/Straight hair
Black/Brown eyes Blue Eyes
With Ear lobes Without Ear lobes
Can Roll Tongue Cannot Roll Tongue
Has Normal Vision Color Blind
Has Dimples Has No Dimples
Pigmented Skin Non Pigmented Skin (Albino)
Long Eye Lashes 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

 Father’s 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 fathergirl

  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 Two ovum and two sperms
gametes
involved

One ovum is fertilized and one Fertilization Two ovum are fertilized and
zygote is formed two zygotes are formed

The single zygote divides into Division of The two zygotes formed do
two zygotes zygote not divide
formed

The two foetuses share one Number of The two foetuses have two
placenta placentas separate placentas
 Have identical chromosomes and Chromosome Have different chromosomes
genes s and genes and genes

Have the same sex-both boys or Sex of twins The twins may have the same
both girls sex or opposite sexes

The twins have similar Characteristi The twins have different

characteristic feature c features 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 chromosomespolyploidy

Consequences of chromosomal mutation

1. Down’s syndrome

 Individuals suffering from Down’s 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. Klinefelter’s 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. Turner’s 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
** Down’s syndrome and other related chromosomal abnormalities occur more
frequently in children born to older women  related to the age of the mother’s 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 Disadvantages

1. Mutation produces genetic variation. 1. Can cause genetic disorder such

This can give rise to new species. as albinism and haemophilia
which can be passed on future
 generations

2. Plants and animals mutate in 2. Can cause abnormalities in children

response to adverse changes in the
environment. Mutation gives them a
better chance to survive

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.