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GENETICS AND INHERITANCE

Introduction

 Genetics is the study of heredity and variation in living organisms

 Inheritance – the set of characteristics that have been passed from parent to offspring
 Heredity – the transmission of characteristics from parents to their offspring
 Every child inherits genes from their biological parents that express specific traits.
 Some of these trains may be physical for example eye colour or hair colour etc.
 Some genes may also carry certain risk of disorders and diseases.
 Johann Gregor Mendel the “father of genetics” demonstrated that traits are transmitted from
parents to offspring independently of other traits and in dominant and recessive patterns

Mendel’s observations

 The characteristics of an organism are passed on from one generation to another by genes.
 The genes exist in pairs. (TT/Tt/tt)
 One of the genes comes from the father and one comes from the mother
 If a dominant and recessive gene of a trait exist together (Tt), the dominant (T) form mask the
recessive trait (t).
 The recessive gene can be present even though it is not physically visible (Tt).

Concepts in Inheritance

 Gene is a segment of DNA that controls

a specific hereditary characteristic
 Genome is the complete set of genes of
a particular organism

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 From a gene pair, one gene is paternal and the other is maternal
 The gene occurs in two (sometimes more) different forms that affect the same characteristic in
different ways
 Allele is the alternative forms of the same gene
 But a particular gene has a specific position on a chromosome
 Locus is the specific position of a gene on a chromosome

Gene: Height

T – tall

t – short

TT Tt tt Genotype
Tall Tall Short Phenotype
(homozygous) (Heterozygous) (Homozygous)

 Dominant – the allele of a gene pair that can mask another and be visible in the organism (T)
 Recessive – the allele that is masked and is not visibly expressed in the organism (t)
 Homozygous – when two alleles for a particular characteristic on the homologous chromosomes are
the same (PURE BREED/TRUE BREEDING)
 Heterozygous – when two alleles on the homologous chromosomes differ from each other (HYBRID)
 Genotype – the genetic composition of the gene pair for a specific trait
 Phenotype – the physical characteristics of an organism determined by its genotype as well as its
environment

Mendel’s law of Dominance – In heterozygous condition the dominant allele expresses itself in the phenotype,
masking the effect of the recessive allele

OR

When two individuals with pure breeding ADAPTED

contrastingBYcharacteristics
MR S.J SILAULE are crossed, the F1 generation all display
the dominant characteristic
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Mendel’s law of segregation

 During gametogenesis the two alleles of a gene separate so that each gamete will receive one
allele of a gene for a specific characteristic/trait

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Monohybrid Crosses
 A cross where only one hereditary characteristic is investigated at a time

STEPS:

 Identify gene being investigated

 Underline key words

 Use template

Template;

Gene:________________

P1 Phenotype:_________________×____________________

Genotype :_________________×____________________

Meiosis

Gametes :__________________×_________ __________

Fertuiliaztion:

F1 Genotype: ________________________ Express as either ratio, fraction

Phenotype: _______________________ or percentage

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Types of dominance
Complete dominance

 If one allele is dominant and the other is recessive, such that the effect of the recessive allele is
masked by the dominant allele in the heterozygous condition
 Results in only the effect of the dominant allele expressed in the phenotype
 The effect of the recessive allele is only expressed in the phenotype if the gene pair is double
recessive (tt).

BB bb

Bb Bb Bb Bb

Incomplete dominance

 none of the two alleles of a gene is dominant over the other, resulting in an intermediate
phenotype in the heterozygous condition

RR WW

R W

RW

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Co-dominance

 Both alleles of the gene pair are equally dominant and both are expressed in the phenotype in
that heterozygous condition

1. Human karyotype

 Somatic cells are all body cells except sex cells in an organisms
 Gametes are sex cells (sperm cell or egg cell)
 Humans have a double set chromosomes which is a Diploid number (2n)
 Humans have 46 chromosomes which is 2n = 46
 Since they are diploid it means they are paired.
 Each chromosome pair is similar in shape, size and genetic composition

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 Each chromosome of the pair is inherited from the mother (maternal) and the other from the father
(paternal)
 This pair of chromosomes is referred to as a Homologous pair
 Gametes only have a single set of chromosomes which is referred to as Haploid number (n)
 Human games have 23 chromosomes (n=23)
 A human karyotype is a complete diploid set of chromosomes, arranged according to their size,
shape and number in homologous chromosome pairs within a somatic cell of an organism

MALE XY FEMALE XX

 The human karyotype consists of 22 pairs of Autosomes and one pair of Gonosomes
 Autosomes – all chromosomes except sex chromosomes and are located from position 1 to 22
 Gonosomes – sex chromosomes that determine gender and are located on position 23 in humans
 A female has two X Gonosomes, meaning female has 44 + XX
 A male has one X and one Y gonosome, meaning a male has 44 + XY
 All normal human somatic cells contain 46 chromosomes or two sets of 23 chromosomes. One set
of 23 chromosomes comes from the father and the other set of 23 chromosomes comes from the
mother.

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Sex determination

 A male has 44 +XY chromosomes and therefore his gametes will either have 22+X or 22+Y
 A female has 44 + XX chromosomes and therefore all her gametes will always have 22+X

Gene: Gender

P1 Phenotype: Male × Female

Genotype : XY × XX

Meiosis

Gametes : X or Y × X or X

Fertuiliaztion:

X Y

X XX XY

X XX XY

F1 Genotype: 50% XX : 50% XY

Phenotype: 50% female : 50% male

 Therefore during spermatogenesis half of the sperm cells produced will have the X chromosome
and the other half will have Y chromosomes
 It is for that reason that the male determines the gender of offspring since it depends on
whether the sperm cell that fertilizes the egg cell which always has an X chromosome contains
an X or Y chromosome in its haploid nucleus.
 Therefore there is always a 50% chance of getting a male or female offspring since half of the
male gametes carry the X chromosome and the other half carry the Y chromosome and the
female gamete will always carry the X chromosome.

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Sex-linked Inheritance

 Gonosomes not only control gender, but also carry other genes which are known as sex linked
genes
 The Y chromosome is very small and almost carries no other genes
 The X chromosome is larger and carries many other genes
 Genetic disorders are thus mainly carried on the X chromosome
 If a disorder is caused by a recessive like Haemophilia it will be carried on the X chromosome,
therefore it will affect male more than females since a male has a single X and Y chromosome
and thus needs only one recessive allele to have the disorder. While a female has two X
chromosomes (XX) and therefore needs to have two recessive alleles to have the disease.
 Therefore there is a higher probability for a male to in inherit a sex linked disorder than a
female.

Sex-linked disorders

A. Haemophilia
 A condition where blood takes a long time to clot due to lack of clotting factors
 A gene mutation caused by a recessive allele on the X chromosome.

H – normal dominant allele h – abnormal/affected allele,

H
X – Normal Xh- abnormal/affected Y- doesn’t carry any allele for the disorder
MALE FEMALE
H H H
X Y – a normal male X X – normal female
XhY – abnormal/affected/haemophialiac male XHXh – normal female but a carrier of the disorder
XhXh - abnormal/affected/haemophialiac female

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B. Red-green colour blindess

 Visual defect resulting in an inability to distinguish between certain colours
 Also caused by a recessive allele carried on the X chromosome

D – normal dominant allele d – abnormal/affected allele,

D
X – Normal Xd- abnormal/affected Y- doesn’t carry any allele for the disorder
MALE FEMALE
D D D
X Y – a normal male X X – normal female
XdY – abnormal/affected/haemophialiac male XDXd – normal female but a carrier of the disorder
XdXd - abnormal/affected/haemophialiac female

Blood grouping

 Co-dominance and complete dominance occur in the inheritance of blood groups in humans
 There are four different blood group phenotypes and are controlled by one gene (AOB gene)
with three possible alleles (Multiple alleles)
 Multiple alleles – when a gene has more than two possible alleles to control a hereditary
characteristic

Blood group (phenotype) Genotype

A IAIA/IAi
B IBIB /IBi
AB IAIB
O ii

 Allele and allele are both dominant over allele i (complete dominance)
 Allele and are co-dominant
 Blood groups are therefore an example of a gene with multiple alleles, the alleles occur at the
same locus on a particular homologous chromosome pair

PATERNITY TESTING

 Blood groups can be used in paternity testing if the blood types of the child and both parents
are known
 But it is not very effective because it only excludes a man as the parent but it cannot confirm
that a particular man is the father, since a large portion of the population has the same blood
type.

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Dihybrid Crosses
 Investigating two pairs of contrasting characteristics, carried on different homologous pairs

ALL GgRr

Mendel's Principle of Independent Assortment

 Characteristics for which the gene pairs occur on different homologous chromosomes will be
inherited independently of each other

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Pedigree diagram
 Pedigree diagram traces the inheritance of characteristics over many generations

Interpretation of pedigree diagrams

PEDIGREE STEPS
The diagram below shows the pattern of 1  Identify if the disorder is Autosomal or sex-linked
inheritance of deafness in a family. The  If Autosomal do not use X and Y chromosomes
letter H represents the allele for hearing  If sex-linked make use X and Y chromosomes plus the
and h represents the allele for deafness. given alleles
KEY: 2  Identify if the disorder is caused by a dominant or
Normal female affected female recessive allele

In this example it is Autosomal since it was not mention that it is sex-

linked or affects the X chromosome. Also it is caused by a recessive
Normal male affected male allele
3 Write down all possible genotypes
 Normal – HH/Hh and affected – hh
Choose one that has only one possible genotype then fill on
the diagram
 In this case it is hh, therefore Lyall’s genotype is hh
4  The other possible genotypes left to fill in are HH and Hh.
 Notice that in both genotypes the first allele is always
dominant H.
5 Therefore fill everyone on diagram with the first allele as H
and leave space next to the allele
H_ all the individuals left
Now start solving for the missing allele by starting with last
generation. So we solve going up. To solve we use the notion that
each individual will inherit a single allele from each parent
6 We now use any one with two recessive alleles to fill in the
missing allele
In this case it’s Lyall (hh) whose genotype suggests that he
inherited one recessive allele from each of his parents. Thus
Gabby and Paul’s genotypes are Hh. Since Mieke’s parents
(Gabby & Paul) are both heterozygous it means she can have
HH/Hh as her genotype since she can inherit any alleles from
them with exception of two recessive alleles.
7 Now move up to the next generation. In the next generation
we are left with Fiona’s genotype to find but we know she
has H_. Since in this generation there is no homozygous
recessive we can use her parents in the next generation.
Linda has two recessive alleles which means all her offspring
will always have at least a single recessive allele and thus
Fiona’s genotype is Hh.

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PEDIGREE STEPS
The diagram below shows the pattern of 1  Identify if the disorder is Autosomal or sex-linked
inheritance of the sex-linked disorder  If Autosomal do not use X and Y chromosomes
Haemophilia in a family. The letter H  If sex-linked make use X and Y chromosomes plus the given
represents the allele for normal and h alleles
represents the allele for affected. 2  Identify if the disorder is caused by a dominant or recessive
KEY: allele

Normal female affected female In this example it is sex-linked and it is caused by a recessive allele

3 Fill in all the X and Y chromosomes on the diagram based on the

key. Males = XY and Females XX
Normal male affected male
4 Write down all possible genotypes
 Normal female – XHXH/XHXh and affected female XhXh
 Normal male – XHY and Affected male XhY
Choose one that has only one possible genotype then fill on the
diagram. In this case it is the male’s genotypes for both normal
and affected as well as the genotype an affected female. Use the
key to fill in.
1 2  This means individuals 1, 3 & 8 have the genotype XhY
 Individual 5 have the genotype XHY
 Individual 4 has genotype XhXh
We are now left with individuals that can have either XHXH/XHXh as
their possible genotypes

5  Notice that in both genotypes the first allele is always

dominant H.
3 4 5 6
6 Therefore fill everyone on diagram with the first allele as XH and
leave space next to the allele
XHX all the individuals left
Now start solving for the missing allele by starting with last
generation. So we solve going up. To solve we use the notion that a
male inherits an X chromosome from his mother and a Y
7 8 chromosome from his father.
7 We now use the males to fill in the missing allele of the females.
In this case individual 8 (XhY) suggests that he inherited a
recessive h from his mother which is individual 6. Therefore
individual 6 has the genotype XHXh. Individual 7 inherited XH
from her father (individual 5) and therefore can inherit either XH
or Xh and still be normal and hence the genotype of individual 7
can be XHXH either or XHXh. Individual 2 is the mother of both
individual 3 & 5 and since they both have different X
chromosomes (XH & Xh) and they received their Y chromosomes
from their father (individual 1). Their X chromosomes represent
the genotype of individual 2 which is XHXh

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Mutations

 Mutation is any change in the genetic composition of an organism

 Mutations occur spontaneously
 Factors such as radiation and chemical substances can accelerate occurrence of mutations
 Mutations are caused by nuclear radiation, exposure to UV light and x-rays
 There are two types:
o Chromosome mutations
o Gene mutations

Chromosome mutations/aberrations

 Refers to the change in the structure or number of chromosomes

 Occur when meiosis does not occur properly
 Usually caused by Non-disjunction

Gene mutations

 Occurs as a result of a change in the nucleotide sequence in the DNA molecule

 Results in a change in the code for protein synthesis which leads to formation of a faulty protein
or no protein at all
 Gene mutations occur during; DNA replication, transcription and crossing over

Effects of mutations

Mutations can be harmful or harmless to the organism in which it occurs

Harmless or silent mutations

 Have no effect on the structure or functioning of the organism which possesses them
 Usually occur on non-coding DNA and don’t affect protein synthesis
 Are expressed on the phenotype of the organisms but are passed on to future generations
 Since more than one codon codes for a specific amino acid, this type of mutation can change
one codon to one of the other possible codons for that amino acid and will therefore not affect
an amino acid sequence
 Some mutations can appear on the phenotype of organisms and have no effect e.g. freckles in
humans

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Harmful/lethal gene mutations

 Harmful gene mutations that cause genetic disorders

 The mutated organism usually dies and characteristic is not passed on to the next generation
 Cause;
o Albinism
o Sickle-cell anaemia

Useful/advantageous mutations

 Some mutations can be advantageous to the organism

 This means new alleles develop that could favour adaptation to a changing environment
 Therefore mutations contribute to genetic variation
 The favourable characteristics are usually passed down to the next generation while the
unfavourable characteristics tend to disappear (Natural selection- survival of the fittest)

Disorders caused by mutations

Haemophilia Colour blindness Albinism Down syndrome Sickle cell anemia

Blood does not The person cannot The lack of the The person has an extra -Caused by a mutation that
clot because differentiate pigment in the copy of chromosome 21 leads to change in amino acid
proteins for between different skin due to due to no-disjunction sequence
blood clotting colours due to absence of during meiosis -Results in sickle-shaped red
factors are not absence of the the protein blood cells that carry less
produced necessary protein that forms oxygen to cells
for melanin -Causing decrease in cellular
photoreception respiration leading to less
energy being generated
-Person is then is often tired
or fatigued

Sex-linked Sex-linked -Autosomal -Autosomal -Autosomal

-caused by - caused by gene -caused by -caused by chromosome -caused by gene mutation
gene mutation mutation gene mutation mutation

Mutations contribute to genetic variation

 Mutations can cause genetic variation through gene and chromosomal mutation
 Mutations that occur in sex cells are passed on to the new generations creating new
characteristics.

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Genetic engineering
 The direct manipulation of the genes of an organism to satisfy human needs
 Also known as Genetic modification
 In order to obtain a desired characteristic, the relevant gene from a cell in one organism is
transferred to a cell in another organism
 Genetic engineering also replaces faulty or missing genes that cause disorders or diseases
 In genetic engineering a gene is identified in a healthy cell and is extracted and a vector is used
to transfer it to a defective cell where it is integrated into the organisms genome
 The genes are transferred to the defective cell using a Vector
 A vectors is a virus or bacteria used to transfer an isolated gene into a defective cell
 Recombinant DNA is the new DNA that is formed using genetic engineering
 Gene therapy is the integration of genes for therapeutic purposes in cells with faulty or missing
genes

Genetically modified organisms (GMO)

 GMO’s are the result of genetic engineering

 GMO’s can be microbes or animals or plants

Importance of genetic engineering and GMO’s

 Synthesis of medicinal drugs

 Production of crops
 Cloning
 Stem cell research

In medicine

Production of vaccines

 Certain bacteria and plants can be genetically modified to produce antigens of certain virus and
these antigens are then used to trigger an immune response in the body and the body will
recognize the antigens as foreign and produce antibodies in response
 The antibodies provide immunity from infection by that particular virus

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Production of insulin

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Advantages of producing insulin by genetic engineering

 No problem from religious groups

 Can be mass produced
 Avoid killing animals
 May have fewer side effects

STEM CELL RESEARCH

 Stem cells are simple undifferentiated somatic cells

 They are not specialized for a particular function
 They have the capacity to repeatedly divide by mitosis and generate a continuous supply of cells
 They can be stimulated to differentiate into specialized cells that are specifically adapted for a
particular function and hence can be used to replace damaged or diseased cells

Sources of stem cells

 Umbilical cord blood

 A foetal blastocyst
 Bone marrow

Uses of stem cell therapy

To treat:

 Cancers like leukemia

 Multiple sclerosis
 Diabetes
 Organ damage

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CLONING
 The production of an individual which is genetically identical to the one from which it was
produced

 A somatic cell (diploid) is taken from a donor (male or female) which has the desired
characteristic
 The nucleus of the donor somatic cell is removed
 From the surrogate (female) an ovum (haploid) is removed
 The nucleus of the ovum is removed and destroyed
 The donor’s diploid nucleus is placed inside the ovum without a nucleus
 The ovum/embryo (diploid) is then put back into the uterus of the surrogate
 When the new offspring is produced, it is identical to the donor
The sheep called Dolly was cloned successfully in 1997

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Viewpoints on cloning

Viewpoints against cloning Viewpoints in favour of cloning

It is unnatural Can be used to produce fit individuals (best genes)
Challenges religious groups Better yield
Decreases genetic variation Organisms produced in a short time
Cloned animals are prone to problems such as weak Saving endangered species
immune systems
The cost is very high Producing body parts
Long term effects of human cloning are unknown Producing offspring for organisms that are infertile

Mitochondrial DNA (mtDNA) and genetic links

 mtDNA occurs in the mitochodnria and is not related to nuclear DNA

 mtDNA codes for enzymes involved in cellular respiration
 During fertilization the sperm cell and ovum each contain separate mtDNA but the mtDNA of
the sperm cell does not from part oif the zygote since the tail of a sperm is discarded during
fertilization meaning the mtDNA of an individual is inherited via female genetic line.
 Therefore the mtDNA of individuals can be used to tell how closely related organisms are and
create genetic links

Advantages and disadvantages of GMO’s/Genetic engineering

Advantages Disadvantages
Large better yields and stronger crops Initially is an expensive process
Its cheaper for farmers to produce modified crops that May have potential health effects in humans
are resistant to pests/insects
GMO’s can survive unfavourable conditions (drought) Undesirable effect of new gene on the environment
Can use them to produce medicines We are interfering with nature and playing God
Longer shelf life Decreases biodiversity
Improved taste of food Unsure of long term effect

Genetic counseling

 Process of advising individuals and families affected by or at risk of genetic disorders to help
them understand implications of genetic contributions to disease

Advantages of genetic counseling

 Early diagnosis of disorder

 Provide information on the nature of the disorder
 Couples can make a decision on having a baby or not
 Provide support to family members who have to provide care to person with the disorder
 Providing information regarding re-occurrence of the disorder

ADAPTED BY MR S.J SILAULE