Inheritance

• Inheritance – the passing down of genetic

instruction from one generations to the
next generations
• The scientific study of inheritance is called
genetics
• Genetics is the study of how variations
arises and how characters of individuals
are passed on from one generations to the
next
• Gregor Mendel – father of genetics
 Monohybrid inheritance
• Mendel performed cross pollination with
pure breeding pea plants
• Mendel choose two contrasting parent
plants:
– Pure breeding tall plant
– Pure breeding short plant
T t T t

short
• Mendel concluded :
– Inheritance depend on the transfer of
hereditary factors from parents to offspring
– Each character is controlled by a pair of
factors
– These factors may be dominant or recessive
– The hereditary factors that is described by
Mendel are called genes
 The term used in the study of
inheritance
Genes and alleles
• Genes are basic unit of inheritance which
occupy specific position in chromosomes
• Gene occupies a specific site called locus
on a chromosomes
• Alleles are alternate forms of the same
gene occupying the same relative position
on a certain pair of homologous
chromosomes
– Example :
– the gene for stem length has two alleles one
for a tall trait and other for short trait
G g

R r

S s alleles

T t

Locus of genes for stem length

Phenotype and genotype
• Phenotype – the traits of characters in an
organisms
– Colour, size, structure
• Genotype – the genetic composition of an
organism which is not manifested
– Represented by the alleles present
– TT, Tt
Dominant and recessive alleles
• Dominant alleles – allele that can manifest
itself and cover the effect of the recessive
allele
• Recessive alleles – allele that can
manifest itself when there is no dominant
allele
• Dominant allele is represented by capital
letter – T
• Recessive allele is represented by a small
letter - t
Homozygote and heterozygote
• if both alleles at a give locus is the same
the genotype is called homozygous
– TT
• If the alleles at a given locus are different,
the genotype is called heterozygote
• TT – tall (homozygous domonant)
• Tt – tall (heterozygous)
• tt – short (homzygous recessive)
Mendel’s first law of segregation
• The characters of a diploid organisms are
determined by alleles which occur in pairs
• The two alleles of a gene separate from
each other during the formation of genes
• Only one allele is carried in a gamete and
the gametes unite randomly during
fertilisation
• Resultant offspring receive one allele from
its male parent and one from its female
parent
 Both pea plants are pure breeding
Carries homozygous alleles
Alleles are located at the same
X position

Metaphase I – homologous
Chromosomes are arranged at
The equator

Anaphase I – homologous pair

Separate and moving to opposite
Poles
 End of meiosis – only one allele for each
Trait is found in each gamete

After random fertilisation – F1 generation

Plant has one pair of alleles of the same
Length character

When the plants of F1 generation were allowed to

Self pollinate. It will result in F2 generations with different
Genotype combinations – TT, Tt, tt
 Dihybrid inheritance
• Mendel continue his experiment by
crossing pea plants to study the
inheritance of two pairs of contrasting traits
• Mendel carried out dihybrid crosses
between pure breeding pea plants
Parental Pea plants seed A Pea plant seed B

Phenotype Round Wrinkled

yellow green
Parental
RRYY rryy
genotype

ry
gametes RY

F1 genotype RrYy

F1 fenotype All round and yellow

seeds

F1 x F1 RrYy x RrYy
 F1 x F1 RrYy x RrYy

gametes
RY Ry rY ry RY Ry rY ry
 Punnett square

Gametes
from one
parent
Gametes
From the
Other parent RY Ry rY ry

RY RRYY RRYy RrYY RrYy

Ry RRYy RRyy RrYy Rryy

rY RrYY RrYy rrYY rrYy

ry RrYy Rryy rrYy rryy

 • 9 : 3 : 3 : 1
Round Round and Wrinkled and Wrinkled and
And yellow Green seeds Yellow Green seeds
seeds seeds
• F2 genotype :
RRYY, RRYy, RrYY, RyYy – round yellow
RRyy, Rryy – round green
rrYY, rrYy – wrinkled yellow
rryy –wrinkled green
• Four different phenotypes are produced by
the nine different combinations of the
genotypes
Law of Independent Assortment
• Second law on inheritance
• Two or more pairs of alleles segregate
independently of one another during the
formation of gametes.
• Therefore traits are inherited by the
offspring independent of one another
• Main concept of this law are:
1.Segregation of alleles for the shape of the
seeds does not affect the segregation of
alleles for the colour of the seeds
2. The alleles segregate independently
because they are located on different
chromosomes
3. the law explain the production of gametes
with different allele combinations
new combinations – recombinations
leads to genetic variations
• The result of dihybrid inheritance are
explained in terms of the behaviour of the
chromosomes during meiosis
Independent assortment produces four equal likely allele combinations
during meiosis
 The ABO blood group system in
humans
• Multiple alleles means there are more than
two possible alleles of a particular gene
that control a specific character
• ABO blood group system in humans is an
example of a character that is controlled
by multiple alleles
• These blood groups are determined by
three different alleles of a single gene
called the I gene
• IA , IB, IO

Recessive

Dominant
• If both allleles IA and IB are present neither
dominates the other (codominant)
Phenotype (blood group) Genotype

A I AI A, I AI O
B I BI B, I BI O
AB I AI B
O IOIO
• IA represent antigen A
• IB represent antigen B
• These antigens are secreted onto the
surface of the red blood cells
 Blood type A

Antigen A

Anti-B antibody
• Antibodies are present in the blood serum
of each blood group
Phenotype Antigens on Antibodies
present Can donate Can receive
(blood
group) red blood
cells in blood blood
blood to
groups blood
blood from
groups
serum

A A Anti-B A, AB A, O

B B Anti-A B, AB B, O

AB A and B None AB AB,

O A, B,

O None Anti-A,
anti-B A,B,AB,
O O
• Io – does not have any antigen
• Antibodies are present in each blood
group
• Type A blood – has type B antibody (anti-
B)
• Type B blood (antigen B) injected into a
person with type A blood
- anti-B in blood type A cause the blood to
agglutinate
• Type AB blood has no antibodies
- can receive blood from other blood
groups
- universal recipients
• Type O blood has no surface antigen
- if injected into a person with blood group
A, B or AB do not cause the type O blood
to clump together
- type O – universal donor
 The Rhesus factor
• 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
• The Rhesus factor is controlled by a pair
of alleles
– Rh (dominant allele)
– rh (recessive allele)
• Individual with Rhesus factor is known as
Rh-positive (Rh+)
• Genotype of Rh-positive individual
– Rh-Rh ( homozygous dominant)
– Rh-rh (heterozygous )
• If a human does not have Rhesus factor –
known as Rh-negative
• Rh-negative individuals are homozygous
recessive (rh-rh)
• The inheritance of the Rhesus factor
follows Mendels first law
Examples:

A man who is homozygous Rh-positive

marries a woman who is Rh-negative.
What are the chances of their children
being Rh-negative
Phenotype Rh-positive Rh-negative

Parents : Rh-Rh X rh-rh

genotype
Gametes Rh rh

Genotype of
offspring Rh-rh

Phenotype of : Heterozygous Rh-positive

Offspring all children are Rh-positive

none are Rh-negative

 Parents : Rh-positive Rh-negative
Phenotype

Genotype Rh-rh x rh-rh

Gametes : Rh rh rh

Genotype off : Rh-rh rh-rh

offspring

Phenotype of : Heterozygous Homozygous

offspring
Rh-positive Rh-negative

50% chance of having a child who is Rh-negative

• Rhesus factor can be a problem when a
Rhesus-negative person receives Rh-
positive blood during blood transfusion
 First transfusion – does not
Result any reaction

Second transfusion – recipient

Blood reacts by producing
Rhesus antibodies

Agglutination of the donor’s blood

- Lead to death
 Pregnant mother (Rh-negative)

First baby has Rh-positive

-Fragment of baby’s blood
may enter the mother’s blood circulation Treatment
-Replace baby’s blood with Rh-negative
Blood
Mother’s immune system - Injection of anti-Rhesus antibodies
Produce Rhesus antibodies
Second baby will die
Rhesus antibodies enter
The foetus’s blood circulatory
system through the placenta

The antibodies is not sufficient Second baby

To cause any effect on the firstborn -If the foetus is Rhesus-positive
-Antibodies from the mother can cause
baby’s blood to agglutinate
 Autosomes and sex
chromosomes
• Autosomes – 22 homologous pairs in
male and female
– Control all characteristics of the somatic
cell
– Do not carry genetic information for sex
determination
• Sex chromosomes carry genes that
determine the sex of an organism
• Male – XY
• Female - XX
• X chromosome is larger than the Y
chromosome
• Y chromosome is much shorter than the
X chromosome and it carries fewer
genes
• Male – 44 + XY
• Female – 44 + XX
 Different human karyotypes
• When homologous chromosomes are
arranged from the largest pair to the
smallest pair and numbered according
to size the form the karyotype of an
individual
• Karyotypes are identical in all diploid cells of
an organism
• Autosomes are numbered 1-22
• Sex chromosomes – 23
• Cell of an individual with a genetic
disease show different karyotype from
the normal human being
• Down syndrome
– 2n + 1
– 45 + XX / 45 + XY
• Down’s syndrome karyotype

Extra chromosomes
Number 21
• Phenotype :
– Slanted eyes
– Small nose
– Large tongue
– Short, wide arms
– Low immunity
– Mental retardation
Sex determination in offspring
• Sperm carries either Y chromosomes or
an X chromosomes
• Meiosis produced :
– 22 + X
– 22 + Y
• A sperm with an X chromosomes (22 +
X ) combines with an ovum (22 + X) the
zygote that is produce contains XX
chromosomes
– Female offspring
• The sex of the offspring is determined
by the male parent
• The probability having a boy is 50% and
the probability of having a girl is also
50%
Parents : father mother

Parent's : 44 + XY 44 + XX
genotype

Gametes : 22 + X 22 + Y 22 + X 22 + X

Genotype of 44+XX 44+XX 44+XY 44+XY

offspring

female female male male

• All ova carry the X chromosomes
 Sex-linked inheritance
• Sex-linked genes refers to the genes
carried on the X chromosomes
• Y chromosomes does not carry sex
linked genes
• Y chromosomes is shorter and carry
less genes/allele
• In male any trait caused by a dominant
or recessive allele present on the X
chromosomes will be manifested fully
• Genes on the X chromosomes are
present in two copies in females but
only one copies in males
–X Y
• Male offspring must inherit the Y
chromosome from their father and,
therefore always inherit only the maternal
allele of any sex linked gene
• Disorder caused by recessive genes are
linked to the sex chromosome X
– Haemophilia
– Colour blindness
 Haemophilia
• A condition in which the blood cannot
clot normally
• Due to lack of a protein needed for
blood clotting
• Individual's inability to produce the
protein is caused by recessive allele on
the X chromsome
• Normal dominant gene – XH
• Female have a pair of alleles of the
genes that controls the production of the
clotting factor
• Male have only one allele
• Females may be homozygous dominant
or heterozygous dominant
– XHXH
– XHXh
• Female with heterozygous dominant are
the carriers of the disease
• A normal male – XHY
• Homeophilic male – XhY
A heterzygous female married with a recessive allele
for blood clotting (female carrier) marries a normal male

Phenotype
of parents : Normal male Heterozygous female

genotype
of parents : XHY X X HX h

gametes : XH Y XH Xh

Genotype : XHXH X HX h XHY XhY

of offspring

phenotype : normal normal normal Haemophiliac

of offspring female female male male
carrier
• A female who receive one dominant
allele and one recessive allele for blood
clotting is a carrier
• A female can only be a haemophiliac if
she has two recessive alleles on the X
chromosomes
• A male who carries dominant allele on
the X chromosome is normal
• A male who has recessive allele on the X
chromosomes suffers from haemophilia
because the Y chromosomes does not
have a homologous allele at the same
locus
 Colour blindness
 A person cannot distinguish certain
colours
 Example : red green colour blindness
 Inability to differentiate between red and
green colours
 Caused by a recessive allele on the X
chromosome
 Allele for normal colour vision
represented by – B (dominant)
 Allele for colour blindness – b (recessive)
 A female with normal colour vision may
have these genotype :
 Homozygous dominant (BB)
 Heterozygous dominant (Bb)
 Genotype for a female who is colour
blindness
 bb
 XBXB - dominant homozygote
 XbXb - recessive heterozygote
 Colour blind
 XBXb - heterozygote
 Carrier
 XBY – normal
 XbY – colour blind
A man with normal vision marries a woman with normal
vision. The woman carries the colour bindness allele

phenotype : normal male heterozygous

of parents female (carrier)

genotype
of parents : XBY X X BXb

gametes : XB Y XB Xb

genotype
of offspring: XBXB XBXb XBY X bY

phenotype normal normal normal colour blind

of offspring: female female male male
 In order for a female to be colour blind,
both her parents must carry the
recessive allele
 More male are colour blind because
males inherit the X chromosome from
their mother
 Male have no other allele to assert
dominance over the recessive allele
A colour blind man marries a homozygous normal vision
woman

phenotype
of parents : colour blind homozygous
normal female

genotype
of parents : XbY X XBXB

Gametes : Xb Y XB XB

genotype : XBXb XBXb XBY X BY

of offspring

phenotype female female normal normal

of offspring carrier carrier male male
A man with normal vision marries a colour blind woman

phenotype : normal vision colour blind

of parents male female

genotype
of parents : X BY X X bXb

gametes : XB Y Xb Xb

genotype
of offspring: XBXb X B Xb XbY XbY

phenotype female female colour blind colour bind

of offspring: female female male male
 Other hereditary disease
 A medical condition caused by an allele
inherited from the parents
 It is passed down from one generation to
the next
 Huntington's disease
 Caused by mutation of an autosomal
dominant gene which is located on
chromosome number 4
 Neurological disorder which leads to the
progressive degeneration of the nerve
cells
 Loss of motor coordination, behavioural
changes , loss of mental power
 Only appear between ages of 30 and 50
years
 Sickle-cell Anaemia
 Caused by defective allele for
haemoglobin synthesis
 Autosomal gene which located on
chromosome number 11
 When blood oxygen is low the red blood
cell have the shape of a sickle
 This is due to the clumping of the
abnormal haemoglobin molecules in the
red blood cell
 They more likely to break, aggregate and
clog the blood capillaries
 Cystic fibrosis
 Caused by a lack of transport protein
which allows chloride ions to move
across plasma membranes
 Normally water will pass through the
plasma membranes after the chloride
ions passed
 Affected persons – frequent respiratory
infections
 Caused by cystic fibrosis gene which
loacted on chromosome number 7
 Thalassaemia
 Number of different forms of anaemia
 Caused by recessive gene which lead to
the synthesis of abnormal haemoglobin
in red blood cells
• Red blood cells cannot carry enough
oxygen. Deficiency of iron.
 Passed down by parents who carry
thalassaemia gene in their cells
 Symptoms :
 Appear healthy at birth
 After two years – become pale, listless,
fussy, poor appetite
 Grow slowly
 Develop jaundice
 Treatment :
 Frequent blood transfusion
 Bone marrow transplant
 Gene and chromosomes
 Chromosome – thread like twisted
structure found in the nucleus
 Gene – the basic unit of inheritance
 Has specific location on the chromosomes
 Control the various traits or chracteristics of
organisms
 Number of gene is depend on the size and
length of the chromosomes
 The structure of DNA
 When a chromosome is uncoiled it forms
a very long thread that is made up of one
DNA molecule and proteins s
 The DNA is made up of units called
nucleotides
 Each nucleotides contains :
 Five carbon sugar
 Phosphate sugar
 A nitrogenous base
 DNA molecules is made up of four
different types of nucleotides which have
varied nitrogenous base
 Nitrogenous base :
 Adenine (A)
 Guanine (G)
 Thymine (T)
 Cytosine (C)
A G

C T
 The deoxyribose of a nucleotide is linked
to the phosphate group of and a
nitrogenous base
 The sequence of phosphate and sugar
on the chain does not change
 The sequence of bases differs from one
DNA molecules to another
 When the sequence of nitrogenous base
is changed different sequences of
nucleotides can obtained
 DNA double helix
 Nucleotides are joined in a specific
sequence to form a polynucleotide
 A DNA molecules consist of two
polynucleotide chains that spiral and coil
around each other to form a double helix
 Two polynucleotides or strands are held
together by hydrogen bonds between
pairs of bases
 How trait of an organism is
manifested from the basic unit
of inheritance
 DNA double helix consist of many
genes, each located on a particular
segment
 The determinations of characteristics in
organisms is controlled by the DNA
through protein synthesis in the cells
 Genes contain genetic code for the
synthesis of polypeptides which make up
part of an enzyme or protein
 Genetic instructions is carried in the
sequence of nitrogenous bases along the
DNA molecules
 It is coded by letters
 A, T, C, G
 The nucleotide sequence in a segment of
the DNA molecules determines the
sequence of amino acids in the protein or
enzymes to be synthesised
 The flow of informations from a gene to a
polypeptide or protein is based on the
triplet codes
 Different sequences of the three
nucleotide bases are codes for different
amino acids
 Example :
 AAT – code for amino acid leucine
 AGT – code for amino acid serine
 Protein function as the building blocks of
an organism and control the chemical
processes in an organisms
Importance of genetic research
 Manipulate genes for benefit for mankind
 Combined genes from different species of
organism
 Identify specific genes that causes
diseases and replace the defective
genes
 Forensic science – identify suspect in
crimes
 Genetic engineering bacteria – produce
insulin
 Agriculture – improved plant and animal
product
 Human genome project
 International research programme to
map all the human genes
 To detect, map and determined the
sequence of adenine, cytosine, guanine
and thymine in all human genes
 Benefit
 Identification of genes that cause disease
 Diagnoes, treatments and possible
prevention of many ailment
 DNA samples – hair, saliva, blood,
semen
 Other applications :
 Screen genetic disorder
 Track genes that is responsible for certain
disease
 Test compatibility for potential organ donor
 Advantages :
 Everyone has a different DNA fingerprint
except identical twins
 More useful than blood types forensic
because many people has the same blood
type
- More information on a criminal identity
- very small quantities of DNA are required
for test
- DNA samples last much longer than
fingerprint
- DNA samples are much harder to clean
up at crime scene
 Disadvantages :
 Poor quality and poorly controlled testing
can lead to questionable result
 The origin of the DNA samples may be
question in courtroom
- difficult to analyse accurately blood that is
mixed with wrong chemicals
 Stem cell research
 Stem cells are undifferentiated cells that
can undergo unlimited division to form
other cells
 They can differentiate to form specialised
functioning body cells
 Skin cells, red blood cells, nerve cells
 Two types of stem cells :
1. embryonic stem cells
2. adult stem cells
Embryonic stem cells
- can be isolated from the embryos at the
blastocyst stage
- can be derived from embryos that are
created in vitro
Adult stem cells
-can divide but remain inactive until
triggers prompt them to differentiate -
injury
 Only certain tissues have stem cells
 Brain tissues
 Skeletal muscle
 Liver tissue
 Blood vessel
 Differentiate to become certain types of
cells
 Difficult to grow in a petri dish
Function of stem cells :
- treatment of injury or diseases
- develop ways to manipulate cells
 Genetic engineering
 The gene manipulation and alteration of
genetic materials (DNA / RNA) of an
organism to create new combinations of
genes
 Involves the transfer of genes on the
DNA molecule from one living organism
onto the DNA molecule of another
organism
 Genetic engineering involves :
- The transfer of genes produce a
transgenic organism
- deletion or multiplication of genes within
organism
- modification of existing genes or the
construction of new one and the
incorporation of the genes into a new
organism
 Original DNA combined with foreign
genes – rDNA
Application of genetic engineering
- produce viral proteins that can be used to
generate vaccine
- produce interferon – human protein which
stop virus from multiplying
- produce growth hormone to treat
abnormalities
- produce antibodies
- produce blood clotting factor
- produce enzyme to treat heart attack
Gene therapy
 The application of genetic engineering
techniques to alter or repace defective
genes in human
 Involves the insertion of genetic materials
into a patient
 Its restore the function of the protein
 Can be used for treatment of :
 Sickle cell anaemia
 Cystic fibriosis
 Cancer
 Heart problem
Genetically modified organism (GMO)
 Organisms whose genetic materials have
been altered
 Benefits :
 Produce large quantities of safer drugs and
vaccines for humans and animals
 Example – mass production of human
insulin from genetically enginered bacteria to
treat diabetis
Genetically modified food (GM food)
 The result of modifying organisms
genetically
 Transgenic plant – one or more genes
are added to a plant genome
 Benefits :
 Improve surviving capability
 Greater resistance to pests and disease
 Improve nutritional values
 Increase immunity to certain herbicides
 Increase shelf life
 Examples : wheat, soya, beans,
tomatoes, maize, eggs
 Transgenic animal – cloned DNA is
injected into fertilised eggs
 The eggs are implanted in surrogate
mothers for development to take place
 Benefits :
 Sheep – higher nutritional milk
 Tilapia – greater growth rate
 Cow – make the milk more suitable for
babies
 Salmon – grow faster
 Controversies
 Genetic modifications is seen as
interfering with nature
 Genetic modification has not been
proven safe
 Widespread of pest resistant plant may
result in other plants to be resistant to
the pest
 Plant which are herbicides resistant may
cross pollinate and make other plants
become herbicides resistant
 Unknown risk to human
 Virus and bacteria with foreign genes
may become dangerous pathogens
 The use of discarded embryo in stem
cells research is questionable because it
is like killing lives