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CHAPTER 5

Inheritance

MENDELS EXPERIMENTS

The passing down of genetic instructions from one


generation to the next generation is called inheritance
The scientific study of inheritance is called genetics
Genetics is the study of how variation arises and how
the characters of individuals are passed on from one
generation to the next
Gregor Mendel:
father of genetics
In 1850s, carried out more than 10000 experiments
using garden pea, Pisum sativum to study inheritance
A character is a hereditary feature while each variant
of character is called a trait
Eg.
Character
Trait
Plant height

Tall or short

Seed colour

Green or yellow

Seed shape

Round or wrinkled

MENDELS EXPERIMENT

Used pea plant, Pisum sativum because pea flowers


have both male & female parts, easily grown, short
life cycle & pollination can be easily controlled
Eg. He chose 2 parent plants, 1 of pure breeding tall
plant & 1 of pure breeding short plant, called
parental generation or P generation
He carried out cross pollination by transferring the
pollen grains from the tall plant onto the stigma of
the short plant, then collected the seeds and planted
them, all grew to become tall plants (first filial
generation or F1 generation)
He then allowed the plants of F1 generation to self
pollinate to produce the second filial generation or F2
generation, the ratio of tall to short is 3:1
Characters and traits of pea plants studied by Mendel
(refer pg. 165 textbook, table 5.2)

Terms used in the study of inheritance:

Term used

Description

Example

Gene

Plant height

Recessive
allele
Phenotype

-basic unit of inheritance which occupy specific


position (locus) in chromosome
- determine the characters of an organism
-different forms of the same gene for a trait &
occupy the same relative position on a pair of
homologous chromosomes
-Will mask or cover the effect of the recessive
allele
-Manifests itself in both homozygous &
heterozygous conditions (TT & Tt)
- Only expresses itself when dominant allele is
absent, in homozygous condition (tt)
- Observable characteristics of an organism

Genotype

- Genetic composition, cannot be seen

TT, Tt, tt

Alleles

Dominant
allele

Homozygote

-Organism having an identical pair of alleles


-TT-homozygous for tallness
-tt- homozygous for shortness
Heterozygote -Organism having 2 different alleles
-Tt- heterozygous for tallness

Allele for tall


trait & allele
for short trait
Allele for tall
trait, T
Allele for
short trait, t
Colour, size
TT, tt

Tt

MENDELS FIRST LAW OF INHERITANCE


OR
LAW
OF SEGREGATION
Cross
between
tall and short pea plants involves only

one character, known as a monohybrid cross


F1 hybrids produced from such crosses are called
monohybrids
Monohybrid cross involves a single character that is
controlled by one gene with two or more alleles
Law of segregation states that:
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
fertilisation. The resultant offspring receives one
allele from its male parent and one from its female
parent.
Monohybrid inheritance means inheritance involving
a single characteristic determined by one gene

THE IMPORTANCE OF MEIOSIS I IN THE


SEGREGATION OF ALLELES
Both pea plants in the parental generation are
pure-breeding. Each carries a pair of
homozygous alleles, either the alleles for tall trait
or the alleles for the short trait.
The pair of alleles are located at the same
relative positions on the homologous
chromosomes.
During metaphase I, the homologous
chromosomes are arranged on the metaphase
plate.
During anaphase I, the homologous pairs
separate, with the chromosomes moving to the
opposite poles

At the end of meiosis, only one allele for each


trait is found in each gamete.
After random fertilisation, each F1 generation
plant has one pair of alleles of the stem length
character at the same loci, that is Tt.
When the plants of F1, generation were allowed to
self-pollinate, it will result in F2 generation
plants with three different genotypic
combinations, that is, TT, Tt and tt.

DOMINANT AND RECESSIVE


CHARACTERS IN HUMANS
Character

Dominant

Recessive

Ability to roll tongue

Yes

No

Dimples

Yes

No

Colour of iris

Black

Blue

Hair

Curly

Straight

Lips

Thick

Thin

Skin

Pigmented

Non-pigmeted

Ear lobe

Free

Attached

Colour vision

Normal

Colour blind

DIFFERENT TYPES OF MONOHYBRID


CROSSES
Type of

cross
BB x BB

Genotypic ratio of offspring


All BB

BB x Bb

BB : Bb

BB x bb

All Bb

Bb x Bb

BB : Bb : bb; 1:2:1

Bb x bb

Bb : bb

bb x bb

All bb

TRY THESE:
1.

2.

In human beings, the curly hair trait is dominant


over the straight hair trait. A heterozygous
curly-haired man marries a straight-haired
woman. What are the possible genotypes and
phenotypes of their offspring?
Parents
mango tree M x mango tree N
(sweet fruit)
(sour fruit)
Offspring

mango tree P
(sweet fruit) 50%

mango tree Q
(sour fruit)

50%
If P is crossed with Q, what percentage of the
trees will produce sour fruit?

3.

4.

In the colour of rabbits fur, the allele B


represents black (allele B) while white (allele b)
is recessive. If two heterozygous rabbits are
crossed, what percentage of the offspring will
have white fur?
In humans, a free ear lobe is dominant over an
attached ear lobe. If a man with free ear lobes
marries a woman with attached ear lobes, what
is the percentage of their children who have free
ear lobes?

DIHYBRID INHERITANCE
A cross which involves 2 pairs of alleles determining 2
characters is called a dihybrid cross.
Mendel carried out dihybrid crosses between pure-breeding
pea plants which differed in 2 characters, that is , plants
with round and yellow seeds, and plants with wrinkled and
green seeds
The phenotypes and the ratios of the plants obtained in the
F2 generation are

Round yellow : round green : wrinkled yellow : wrinkled green


seeds
seeds
seeds
seeds
9
:
3
:
3
:
1
Dihybrid inheritance is the inheritance of two characters,
each controlled by a different gene at a different location

MENDELS SECOND LAW OF


INHERITANCE OR LAW OF
Two or more pairsASSORTMENT
INDEPENDENT
of alleles segregate

independently of one another during the


formation of gametes.
The main concepts :
Segregation of alleles for the shape of seeds does
not affect the segregation of alleles for the colour
of seeds
Alleles segregate independently because they are
located at different chromosomes
The law explains the production of gametes with
different allele combinations, leads to genetic
variations among offspring for the survival of the
species

TRY THIS

In fruit flies, normal wings (L) is dominant over


short wings (l) and grey body (G) is dominant
over black body (g). What is the phenotypic ratio
of the offspring if the genotypes of the parents
are as follows: LlGg x llgg

INHERITANCE OF TRAITS IN
HUMANS
Human traits are influenced not only by single
genes but also groups of genes and sex-linked
genes

THE ABO BLOOD GROUP SYSTEM IN HUMANS


Multiple alleles means there are more than 2
possible alleles of a particular gene that controls
a specific character, eg. ABO blood group system
in humans
4 blood groups: O, A, B & AB, determined by 3
alleles of a single gene called I gene. The 3
alleles are IA, IB & IO
IA & IB are dominant (codominant) while IO is
recessive. If both IA & IB are present, neither
dominates the other, blood group is AB

Phenotype (blood group)

Genotype

IA IA , IA IO

IB IB , IB IO

AB

IA IB

IO IO

Phenotype Antigens on

Antibodies

Can donate

Can receive

blood

blood

(blood

red blood

present in

blood to

blood from

group)

cells

blood serum

Anti-B

groups
A, AB

groups
A, O

Anti-A

B, AB

B, O

AB
Universal
recipient
O
Universal
donor

A&B

None

AB

A, B, AB, O

None

Anti-A & Anti-B

A, B, AB & O

TRY THESE:
Draw schematic diagram to show the inheritance
of the ABO blood groups and the genotypes and
phenotypes of the offspring if
i) The fathers blood group is A and the mothers
blood group is B
ii) The fathers blood group is O and the mothers
blood group is AB

THE RHESUS FACTOR

The rhesus factor is an antigen present on the


surface of red blood cells
This antigen results in agglutination when it
reacts with the antibodies from individuals
without this antigen
Rhesus factor is controlled by a pair of alleles: Rh
allele & rh allele
Rh is dominant over rh
If an individual has Rhesus factor, he is known
as Rh-positive (Rh+), either homozygous
dominant (Rh-Rh) or heterozygous (Rh-rh)
If an individual does not have Rhesus factor, he is
known as Rh-negative (Rh-), he is homozygous
recessive (rh-rh)

PROBLEMS WITH RHESUS FACTOR


1) Causes problem when a Rh- person receives Rh+
blood during blood transfusion
Usually in the first transfusion does not result in any
reaction
In subsequent transfusions, the recipients blood
reacts by producing Rhesus antibodies, result in
agglutination of the donors blood in the recipient and
may lead to death
2) Causes problem if a Rh- mother has more than one
Rh+ baby
In first pregnancy, some Rh blood antigen from the
Rh+ foetus enters the bloodstream of the Rh- mother
resulting in antibodies being produced
In subsequent pregnancy, if the unborn foetus is Rh+,
the antibodies from the mother may enter the foetuss
blood, cause excessive breakdown of red blood cells in
the foetus and lead to brain damage or death

TRY THESE:
1.

2.

3.

4.
5.

A man who is homozygous Rh+ marries a


woman who is Rh-. What are the chances of
their children being Rh-?
A man who is heterozygous Rh+ marries a
woman who is Rh-. What are the chances of
their children being Rh-?
A man with normal vision marries a woman
with normal vision. The woman carries the
colour blindness allele.
A man with normal vision marries a colourblind woman.
A colour blind man marries a homozygous
normal vision woman.

AUTOSOMES AND SEX


CHROMOSOMES
Human somatic cells have 46 chromosomes: 44

autosomes (chromosomes other than the sex


chromosomes) & 2 sex chromosomes which can be
either X or Y
Autosomes come in 22 homologous pairs which are
present in both males & females, control all the
characteristics of somatic cells such as blood group
and skin colour but do not control sex determination
Sex chromosomes carry genes that determine the sex
X is larger than Y
Sex

Autosomes

Male

44 (22 pairs)

Female 44(22 pairs)

Sex

No of chromosomes

XX

44 + XX(46)

chromosomes in somatic cells


XY
44 + XY (46)

DIFFERENT HUMAN KARYOTYPES


When chromosomes are arranged & numbered by
size, starting from the largest pair to the
smallest pair they form what is called a
karyotype
Autosomes are numbered 1-22 & the sex
chromosomes are numbered 23
The cells of an individual with a genetic disease
or genetic disorder show a different karyotype
from a normal human being
Eg. Downs syndrome, has an extra chromosome
number 21
Has slanted eyes, small nose, large tongue, short
& wide arms, low immunity, abnormal growth of
bones & mental retardation

SEX DETERMINATION IN OFFSPRING


Male: 44 + XY chromosomes; female: 44 + XX
chromosomes
Male produces 2 types of sperms, 1 carries a Y
chromosome & the other a X chromosome
Female only produces ova with X chromosomes
Draw schematic diagram of sex determination in
humans, pg 175, figure 5.11
Sex of the offspring is determined by the male
parent
Percentages to have a boy or a girl is 50%
respectively

SEX-LINKED INHERITANCE

1.

Genes found on X & Y chromosomes are called sex-linked


genes
Examples of sex-linked traits are haemophilia & colour
blindness
Haemophilia
A condition in which blood does not clot normally
Due to lack of a protein needed for normal blood clotting,
may result in excessive bleeding
Inability to produce the protein is caused by a recessive
allele found on the X chromosome
Haemophiliacs can bleed to death from minor wounds
XH-normal dominant allele on X chromosome
Normal female: XHXH or XHXh (carrier)
Normal male: XHY and a haemophiliac male: XhY
Pg 176, figure 5.12

2.

Colour blindness
A condition in which colours cannot be distinguished,
usually between red & green colours
Caused by recessive allele carried on X chromosome,
similar to haemophilia
Normal vision gene: XB & a colour blind gene: Xb
Do activity 5.7, question 2 a, b & c, pg 177,
in reduced rate of synthesis or no synthesis of
Homework: (results
one of the globin chains that make up hemoglobin)
Other hereditary diseases: thalassaemia, sickle-cell
anaemia, cystic fibrosis & Huntingtons disease

Disease

Cause

Symptoms

GENES AND CHROMOSOMES

Nucleus of a living cell contains genetic material which appear as


thread-like structures called chromosomes
A gene is the basic unit of inheritance, found on chromosomes
Genes occupy specific positions on chromosomes & control the
phenotypes or traits of an individual
Structure of DNA
When a chromosome is uncoiled, it forms a very long thread that
is made up of one DNA molecule and protein (histone)
DNA is made up of units called nucleotides
Each nucleotide contains a sugar (deoxyribose sugar), a
phosphate group & a nitrogenous base (adenine, A; guanine, G;
thymine, T & cytosine,C)
DNA molecule consists of millions of nucleotides found in 2
chains called polynucleotide chains, coil around each other in
double helix form
Double helix is held tgt by hydrogen bonds between pairs of bases
in the 2 chains
Complementary base pairing: A : T; G : C

HOW A TRAIT IS MANIFESTED FROM


THE BASIC UNIT OF INHERITANCE

A chromosome contains thousands of genes (beads


on a necklace)
Genes contain the instructions of the genetic code
that control the manifestations & development of
inherited characteristics such as eye & hair colour
A gene consists of a short segment or length of a
DNA molecule.
Genetic instruction is carried by the gene in the
form of a sequence of nitrogenous bases found in
the DNA.
It is coded using letters, A, T, C & G. Eg. AAT: code
for amino acid, leucine
By controlling which proteins a cell makes, genes
control the traits of an organism

IMPORTANCE OF GENETIC RESEARCH


TO MANKIND

Identify a gene that causes a disease & replace the


faulty gene with a healthy one
In forensic medicine, the use of DNA fingerprinting
techniques to identify individuals has solved many
crimes
In medicine, gene manipulation is used to produce
drugs that can treat diseases
In agriculture, research in genetics has improved
quantity & quality of products from plants &
animals

Homework:
Make notes about the genetic researches above
Photocopy figure 5.15, pg 182; figure 5.17, pg 183; figure 5.19, pg 185
Section B, Pg 190, Q1, 2 &3

DNA FINGERPRITING
A

procedure which analyses a persons unique


collection of DNA segments
Help police in investigations
Forensic scientists use DNA fingerprinting to
examine DNA from tissue samples of hair, saliva,
blood or semen found at the scene of the crime
Also used in screening of genetic disorders and
tracking genes responsible for diseases

HUMAN GENOME PROJECT


Refers to the complete set of genes on the
chromosomes of a human cell
Identify the names and location of all the human
genes on the 22 pairs of autosomes and the X and Y
chromosomes
Determine the nucleotide sequence of the
chromosomes
Identify genes that cause diseases such as skin &
breast cancer, treatment and drugs can be developed

STEM CELL RESEARCH


A stem cell is a special cell with a unique ability to
reproduce itself over long periods
2 types: embryonic stem cell & adult stem cells
Embryonic stem cells develop to give rise to different
specialised cells
In lab, embryonic stem cells are cultured in nutrients
to differentiate into liver cells, nerve cells, used to
replace diseased cells
Adult stem cells are cells in adult tissue that generate
replacements for non-dividing, differentiated cells
Eg. Stem cells in bone marrow generate different
types of blood cells

GENETIC ENGINEERING
A technique of gene manipulation to create new
combinations of genes
Involves the transfer of a gene from 1 living organism
to another organism
In medicine, gene therapy is used to treat genetic
disorders which involves the insertion of genetic
material into a patient
Use a healthy gene to replace the faulty gene
Genetically modified food (GMF): eg. Soya bean,
tomatoes, maize
To increase the quantity and quality of food or animals
To produce drugs and vaccines, eg. insulin