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Chapter 3 Heredity and Variation

SPM: Science Form 4 2015, Hin Hua High


School Klang 4A5

containing

Built up of

Human

Chromosomes

Cells
determining

Characteristics
/ traits

containing

Genes

containing

DNA

3.1 CELL DIVISION


Chromosomes, genes and DNA
Life cycle and cell division
Mitosis : growth
Meiosis : sexual reproduction

NUCLEUS
CHROMOSOMES
-threadlike structure
-human beings have 46 (23 pairs
-contain protein and DNA

DNA
-Double helix structure
--Made up of series of genes

GENE
-Segment of DNA
-Genetic codes which
determine an organism
characteristics

Definition:
A cell division process in which a parent cell
(original cell) divides into two identical
daughter cells (new cells)
Occurs in:
Human and animal : somatic cells
Plants: tips of roots and shoots

nucleus membrane

Chromosomes in the nucleus shorten,


thicken and more visible.

chromatid

Replication of chromosomes occur.


Each strand of chromosome is called
chromatid.

centromere

Spindle fibres emerge.


Chromosomes align themselves in the centre
of the cell.
The nucleus membrane disappears.
spindle fibres

Chromatids divide and separate to the


opposite ends of the cell.
At the same time the cell starts to divide.

The nucleus membrane forms again.


Two daughter cells are formed.
Each daughter cell has the same number of
the chromosomes as the parent cell.

Produce new cells for


growth unicellular zygote
to
multicellular organism

Produce new cells for


replacing dead
cells/repairing tissues

Vegetative reproduction
such as rhizomes, tubers,
leaves

Asexual reproduction for


simple organism like amoeba

Regenerate body parts


such as lizard grows a
new tail

Definition:
A process in which a nucleus of a parent cell
divides into four daughter cells through two
divisions.

The daughter cells will have half the number of


chromosomes in parent cell.
Occurs in reproductive organs to produce
gametes (ovum and sperms ):
Human and animals: testes (male) and ovary (female)
Plants : anthers and ovaries

Meosis 1

Chromosomes in the nucleus


shorten, thicken and more visible.

Crossing over and replication


process occur on chromatids.

Chromosomes align themselves in the


centre of the cell.
The nucleus membrane disappears.

Chromatids separate and move to the


opposite ends of the cell.
The cell begins to divide into two.

Two daughter cells are produced.


The nucleus membrane reforms.

Meosis 2

Spindle fibres emerge.


Chromosomes align themselves in the
centre of the cell.
The nucleus membrane disappears.

Chromatids divide and separate to the


opposite ends of the cell.
The cell starts to divide.

The nucleus membrane is formed again.


Four daughter cells are formed.
Each daughter cell has half of the
number of chromosomes in the parent
cell.

1. To produce
gametes
2. To allow
variation
through :

Crossing over
process

Independent
assortment of
chromosomes

(characteristics are separated during


formation of gamete and randomly
combined during fertilization)

Male
(46 chromosomes)

Female
(46 chromosomes)

Meiosis
Sperm
(23 chromosomes)

Fertilisation
Zygote
(46 chromosomes)

Mitosis
Baby
(46 chromosomes)

Ovum
(23 chromosomes)

http://youtube.co/watch?v=Ba9LXKH2ztU

Replication
of DNA
takes place

SIMILARITIES
Cell division
occurs

Involves
division of
nucleus and
cytoplasm

MITOSIS

DIFFERENCES

MEIOSIS

One only

Number of division

Two times

Occur

Replication process

Occur in the first


division

Four

Number of daughter
cells produced

Two

Same as in parent cell

Number of
chromosomes in
daughter cell

Half of parent cell

Same as parent cell

Combination of gene

Different from parent cell

Does not occur

Crossing over process

Occur

3.2 THE PRINCIPLES AND MECHANISM OF


INHERITANCE
Gene
Exist in pair

Dominant gene

Recessive gene

-A gene which expresses the trait


when paired with a dominant or
recessive gene
-Denote as capital letter, eg

-A gene which expresses the trait


when paired with a recessive gene
only (in the absence of a dominant
gene)

T (tall)

-Denote as small letter, eg t (short)

Dominant trait

Recessive trait

Characteristics controlled by
dominant genes

Characteristics controlled by
recessive genes

Chromosomes are in pair. One from the


father while the other one from the
mother.
Homologous chromosomes
t

Same genes:
Dominant gene and
recessive gene are placed
opposite to each other

Trait

Dominant

Recessive

Earlobes

Free earlobes

Attached earlobes

Tounge

Ability to roll

Inability to roll

Dimples

Presence

Absence

Hair

Curly

Straight

Iris colour

Brown

Blue

Height

Tall

Dwarf

Gregory Mendel was the first person who


discovered the principles of heredity.
Genotype

The genetic information of


an organism

Phenotype

The physical characteristics


of an organism

Phenotype :
Genotype :

Tall (pure breed)

Dwarf (pure breed)

TT

tt

Gametes

F1 Generation

Genotype :

Tt
Tall

Phenotype :

Gametes

Tt
Tall

Tt
Tall

Tt
Tall

Tt
Tall

tt
Dwarf

F2 Generation
Genotype :
Phenotype :

TT
Tall

Tt
Tall

Key:
Homozygous: both genes are
same
Eg: TT, tt
Heterozygous: genes are
different
Eg: Tt

In the pea plant, the gene for round seed(R) is


dominant to the gene for wrinkled seed(r).
a) If a homozygous round-seeded pea plant is
crossed with a homozygous wrinkled-seeded
plant, what will be the phenotype of F1 plants?
b) If the F1 plants are self-pollinated, what will be
the genotype and phenotype ratios of the F2
plants?

a)

Key:
R: round seeded
r : wrinkled seeded

Parental Phenotype :
Parental Genotype :
Gametes

F1 Generation

Rr
Round

Round seed
RR
R

Wrinkled seed
rr
R

Rr
Round

Rr
Round

Hence all the F1 plants have round seeds.

Rr
Round

b)

F1 Generation

Gametes

F2 Genotype :
F2 Phenotype :

Rr

Rr

RR

Rr

Rr

rr

Round

Round

Round Wrinkled

Genotype ratio is 1 RR:2 Rr: 1rr


Phenotype ratio is 3 plants with round seeds : 1 plant with wrinkled seed

B represents the dominant gene for black cat,


and b represents the recessive gene for a
white cat.
What is the phenotype ratio of the number of
black cats to the number of white cats if black
fur cat (Bb) is crossed with another black fur
cat (Bb)?

Answer:
Key:
R: black cat
r: white cat

Parents

Gametes

F1 Genotype :
F1 Phenotype :

Bb

Rb

BB

Bb

Bb

bb

Black

Black

Black White

Phenotype ratio is 3 black fur cats: 1 white fur cat

In the pea plant, the gene for purple flowers


(P) is dominant to the gene for white flowers
(p). A cross between a heterozygous pea plant
with purple flowers and a homozygous pea
plant with white flowers is done.
What are the genotypes of the offsprings?

Answer:
Key:
Pp: heterozygous , purple flower
pp: homozygous , white flower

Parents

Pp

Gametes

F1 Genotype :
F1 Phenotype :

Pp
Purple

pp

Pp

pp

pp

Purple

Genotype ratio is 2 Pp : 2 pp

White

White

3.3 SEX DETERMINATION AND THE


OCCURRENCE OF TWINS IN HUMAN BEINGS
Sex chromosomes: the last pair in human chromosomes

Male: 22 pairs of autosomes and a Female: 22 pairs of autosomes and


pair of sex chromosomes XY.
a pair of sex chromosomes XX.

Sex determination : the sex of baby is determined by


the fathers sperm (XY)

44 + XY

Gamete cells:

or

44 + XX

Fertilisation

Baby
Baby girl
boy
44+XX
44+ XY

Mother

Parents :

44

Gametes :

Offsprings:

22

44

XX

Daughter

Father
XX

44

22

44

XY

Son

22

44

XY

22

XX

Daughter

Ratio of daughter : son is 1:1


Therefore , the chance to get daughter or son is 50:50.

44

+
Son

XY

IDENTICAL TWINS
An ovum is fertilised by a
sperm to form a zygote.
Zygote undergoes mitosis
and separates into two to
develop into two embryos.

NON-IDENTICAL
TWINS
Two different ova fertilised
by two different sperms at the
same time.
Two different zygotes are
formed and develop into two
embryos.

Genetically identical.
Genetically different.
Share the same placenta.

Each has own placenta.


Same sex.
Same sex or different sex.
Known as fraternal twins.

IDENTICAL TWINS

Zygote
undergoes
mitosis
Two
embryos

Foetus
share the
same
placenta

NON-IDENTICAL
TWINS

Two ova
are
fertilised
Two different
zygotes are
formed
Two
separate
embryos

Each foetus
has his own
placenta

Siamese twins
Identical twins that are joined at some parts of the
bodies.
Formed when zygote fails to divide completely in
the course of formation.

NON-IDENTICAL
TWINS

IDENTICAL TWINS

Similarities:
The twins are formed in the uterus.
Two babies are formed.
Differences
One

Number of ova

Two

One

Number of sperms

Two

Yes

Fertilised ovum splits


into two

No

Same / identical

Genetic make up

Different

Yes / sharing placenta

Sharing of placenta

No / separate placenta

Same sex

Sex

Same or different sex

Why do these happen to them?

3.4 MUTATION
Mutation: the spontaneous change to the
structure of genes or chromosomes
Occurs in

Somatic/body cells

(can be passed down


through mitosis)

Gametes/reproductive
cells
(inherited)

TYPES OF MUTATION

Gene mutation

Chromosome mutation

Change in the structure


of DNA

A change in the number


of chromosomes or in
the structure

Downs syndrome: an extra chromosome in


autosome 21 (47 chromosomes)
Klinefelters syndrome: a male with extra X
chromosome (XXY)
Turners syndrome: a female with one less X
chromosome (XO)
Polyploidy: having one or more chromosomes in
a set of chromosome

Colour blindness: a mutated gene in the X


chromosome
Sickle cell anemia: mutation in gene that
produces haemoglobin; inefficient in transporting
oxygen in the blood
Albinism: the gene for skin colour is mutated;
unable to produce black pigment (melanin)
Haemophilia: mutation in gene that is important
for blood-clotting

Downs syndrome
Additional chromosome at autosome 21.
Physical retardation
Thick neck
Slanted eyes
Protuding tounge
Reduced resistance to diseases

Klinefelters syndrome
A male with extra X chromosomes
(having XXY)
Infertile
Underdeveloped testes
Narrow shoulder
Enlarged breasts

Turners syndrome
A female having one less X
chromosome (XO)

Infertile
Short
Mentally retarded
Has no ovaries
Small breasts
Folded skin on neck
No menstrual cycle

Polyploidy
The number of chromosomes is increased by one
or more sets.
More common in plants.

Colour blindness
Mutant gene (recessive gene) on the X
chromosome.
Not able to differentiate colours
especially green and red
More common in males because male
has only one X chromosome

Albinism
The gene for skin colour is mutated
(recessive gene)
Unable to produce melanin (black
pigment)
White hair
Pink eyes and pinkish skin
Skin is sensitive to sunlight

Sickle-cell anemia
Mutation in gene that produce
haemoglobin

Sickle-cell shaped of red blood cells


Not efficient in transporting oxygen
Facing painful crises such as chest pain,
fatigue, bone pain,
Yellowing of eyes
Inherited from both parents

Haemophilia
Mutation in chromosome X (for blood
clotting)

Have problem in blood clotting


May bleed continuously or for a longer
period
A woman carrier may inherit the
disease to a son

Spontaneous changes
during cell division

Exposure to chemical
mutagens: Benzene,
formaldehyde, nicotine,
sodium nitrite, pesticides

Exposure to physical
mutagens: UV radiation,
X-rays, radioactive
radiation

Environmental change: the


change of temperature for a
long period causes genetic
evolution in organism

Advantages
Give rise to variation
which leads to
differences in traits

Better chance of
survival when new
species are more
resistant to diseases

Disadvantages
Cause physical
defects
Causes genetic
diseases
Some chromosome
mutations and gene
mutation are lethal
(fatal)
Causes mental
defects

3.5 THE EFFECTS OF GENETIC RESEARCH


ON HUMAN LIFE
Field of Medicine

Gene therapy: to replace


damaged/faulty genes during
the foetal stage
Genetic screening: to predict
diseases likely to develop
Gene test: to screen unborn
children for diseases

Genetic engineering: to
transfer DNA from one
organism to another
Human genome project:
maps all human genes to
determine genes which
causes diseases

Field of Agriculture

To produce plants which are


resistant to diseases and
infections
To produce engineered plants
which are able to live in
unfavourable conditions

To produce plants which grow


and mature fast

To produce higher yields

To produce high quality of


crops and livestock

A process which involves cross


breeding and cloning of plants or
animals

Advantages

Disadvantages

New varieties with


desired characteristics
can be produced

May produce new


varieties with
undesirable
characteristics

To produce new and


high quality crops
More resistant to
diseases

Example 1: Cow
is cross bred
with

Friesian Cow

Sahiwal Cow

Mafriwal Cow
-Grow faster
-Bigger in size
-More milk
-High resistant to disease

Example 2: Palm oil


Thin
mesocarp

Thick
mesocarp

is cross bred
with

Large
kennel

Dura

Small
kennel

Pisifera

Tenera
-Thick mesocarp and large kennel :much oil
-Thin shell: easier to extract

A process of cloning a plant by using a


plant part or single cell in a test tube
under a controlled condition

Advantages
To produce many
copies of the same
plants in a short time
Shorter maturation
time
To produce plants
anytime we want

Disadvantages
No variation
Complete wipe-out of
crops if there is spread
of diseases

a) Explant:

b) Multiplication:

c) Transplanting:

Process:

The process of producing an organism


that is an exact genetic copy of
another

Animation For Cloning


1. Natural and artificial twinning
http://learn.genetics.utah.edu/content/tech/
cloning/whatiscloning/twinning.html
2. Somatic cell nuclear transfer (as in Dolly)
http://learn.genetics.utah.edu/content/tech/
cloning/whatiscloning/scnt.html

Foods from plants and animals which


have had their genetic information
changed by adding genes from
another organisms

Advantages:
For crops: enhanced
taste and quality,
increased yields,
matures faster, better
resistance to diseases,
remain fresh longer

For livestock:
increased resistance
to infections and
diseases, higher yield
of milk, meat and eggs

Cause allergies and side effects to


human beings
Milk of genetically modified animals
may be unsafe
Antibiotic-resistant genes in GM
organisms may be pass on to bacteria;
difficult to kill them
Genetic research is expensive, poor
farmers cannot afford

3.6 VARIATION AMONG LIVING THINGS


Variation:
The differences among individuals
of the same species

Continuous
variation

Discontinuous
variation

-Characteristics among
individuals which do not show
distinct differences

-Characteristics among
individuals which show distinct
differences

-Quantitative and can be


measured

-Qualitative and cannot be


measured

-Determined by genes and can


be influenced by environmental
factors

-Determined by a single gene


and is not influenced by
environmental factors

Continuous
variation
Height

Length of
foot

Discontinuous
variation

Tongue
rolling

Intelligence
Skin
colour

Blood
group

Earlobes

Weight

Colour
blindness

Iris colour

Genetic factors

Environmental
factors

Crossing over during meiosis: genetic


material is exchanged

Sunlight exposure: will have darker


complexion

Random fusion of male and female


gametes during fertilisations

Water climate, temperature

Chromosome and gene mutation:


creates new phenotypes

pH: the Hydrangea flower is blue in


acidic soil and pink in alkaline soil

Independent assortment of
chromosomes: different gametes

Diet: a person who eats a lot will be


fatter

Ensures the survival of a


species under changing
environment

Enable us to
distinguish
individuals of the
same species

IMPORTANCE

Enable natural selection:


species with favourable
characteristics will be
selected by nature

Enable any species


to occupy a wider
range of habitat

Discuss the similarities and differences


between continuous variation and
discontinuous variation.

Similarities And Differences Between


Continuous And Discontinuous Variation
CONTINUOUS
VARIATION

DISCONTINUOUS
VARIATION

Similarity:
Show differences in characteristics among
individuals of the same species
Differences
Not distinct

Characteristic

Distinct

Yes

Influenced by
environmental factors?

No

If it is influenced by
environmental factors
cannot be inherited

Inheritance

Can be inherited

Two or more genes for


the same character

No of gene

Single gene

Quantitative/ can be
measured

Type of data

Qualitative/ cannot be
measured

3.7 THE NEED TO ADHERE TO A CODE


OF ETHICS IN GENETIC RESEARCH
Discuss the effects of misusing the knowledge
of genetics research.

We need code of ethics!!

The produce of
biological weapon:
anthrax bacteria

GMF may have side effects and


endanger human health,
should be labelled

Human cloning: against


religion
Manipulation of
human genes when
carrying out research
on human being