Genes and Inheritance

5090

Biology
 Chromosomes
⚫ Genetic materials found inside the nucleus of a cell
⚫ Made up of DNA & protein
⚫ Appear as very thin & thread-like structures called
Chromatin
⚫ Each cell in each type of organism has a definite number
of chromosomes
⚫ Each cell has Diploid Number of chromosomes:
1 set of Paternal Chromosomes + 1 set of Maternal
Chromosomes
 DN
A
• Deoxyribose Nucleic Acid
• A very long, thin molecule made up of DNA
nucleotides
• 2 nucleotide strands in the form of double helix
• DNA together with proteins made up the
chromosomes
• Chromosomes are mainly found inside the nucleus
in human cells
DNA is a polymer of DNA nucleotides
Each nucleotide consists of ...

Phosph
ate Organic bases
Pentose

4 types of bases :
A T G C
DNA nucleotides condense into
DNA molecule

A T
G C
A T
T A

T A

C G
T A

C G
A simplified representation of DNA molecule

A T
A T
G C
C G
T A
T A
G C
C G
T A
G C
T A
 gene controlling
skin colour

gene controlling
tongue rolling • DNA is the set of
instructions telling the cell
centromere to make the right type of
protein & control the
gene controlling eye metabolic activities of the
colour
cells
gene controlling
blood group • Each chromosome is made
up of two DNA strands –
each cell has 92 DNA
strands (46 X 2)
 gene controlling
• A human being
skin colour
has 20,000 to 25,000
genes located on 46
chromosomes (23 pairs). These
gene controlling genes are known, collectively,
tongue rolling as the human genome.
centromere
• A gene is a unit of inheritance
gene controlling eye and is a short length of DNA on
a chromosome, which codes for
colour
the production of a particular
gene controlling
protein, determining an
blood group inherited character
⚫ Genome: The complete amount of genetic information
present in an organism is called the genome

⚫ The human genome contains approximately 20,000-25,000

different genes arranged among 23 pairs of chromosomes.

⚫ These genes contain the code to make proteins.

⚫ These proteins are involved in the development and
functioning of body organs and systems.

⚫ Genes vary in size, from just a few thousand pairs of

nucleotides (or "base pairs") to over two million base
pairs.
 - The DNA molecule is twisted into a
double helix and coiled so tightly, that
the total length of the human genome,
about 1.8 m, fits inside a nucleus of
diameter about 6 micrometres.

A gene represent only a small “section” of a

chromosome.

- Each chromosome carries hundreds of

genes;
- scientists have identified 20,000-25,000
human genes.
- Only some of the full set of genes is used
in any one cell – some genes are
ʻswitched offʼ.
 Protein Synthesis (conceptual
extension)
⚫ https://www.abpischools.org.uk/full-screen-animation/23
3/153
 Homologous Chromosomes

⚫ Chromosomes always exist in pairs in the body (somatic)

cells
● Each human somatic cell has 46 chromosomes
● 23 pairs of homologous chromosomes
allele for allele for
white skin dark skin
colour colour
• Members of homologous
chromosomes carry the same
genes (controlling the same
character) in same loci
• But the genes on the members
of homologous chromosomes
may be of different forms
(effects)
Alleles
 Alleles

• Alternative forms of the same gene occupying

equivalent positions on the homologous
chromosomes -- which control the same
character but have different expressions
• Example: Gene A : flower colour
- Allele A1: white pigment - Allele A2: red pigment
 Genes and alleles
⚫ The chromosomes in a pair carry the same genes at the same positions.

⚫ One of each pair has come from the mother and the other from the father, so
the genes are also in “pairs” and both code for the “same characteristic”.

⚫ These alternative forms of “one” gene are called alleles or variants.

⚫ An individual may have two alleles the same or two different alleles for any one
gene.

⚫ If both alleles are the same they are known as homozygous alleles

⚫ If both alleles are different, they are known as heterozygous. When alleles are
heterozygous it may be that one of the alleles is dominant and the
other recessive. A dominant allele always shows its related characteristic in
the individual.
Genes and Alleles
 The pattern of
inheritance and variation
Heredity: tendency of an individual to
resemble his parents
Variation: the differences between
individuals of the same species
Genetics: the study of how characters are
transferred or inherited from one
generation to the next (The
scientific study of inheritance)
 Terms
⚫ Genotype - the genetic makeup/composition
⚫ Phenotype - the physical makeup/external appearance
⚫ Homozygous (pure-breeding)
⚫ with the same alleles in the same character
⚫ Heterozygous (hybrid)
⚫ with different alleles
⚫ Dominant gene/allele (or character)
⚫ which expresses its effect even in heterozygous condition
⚫ Recessive gene/allele (or character)
⚫ which expresses its effect only in homozygous condition
• Pedigree
• it shows the inheritance of one or more characters in different generations
⚫ Test cross
⚫ cross the organism with dominant character to an organism with
homozygous recessive character
⚫ to test whether the organism with the dominant character is homozygous or
heterozygous
• Back cross
– cross an organism with one of its parent
 Mendel’s Breeding Experiment
Monohybrid Inheritance:
•1st to explain the laws of inheritance
•Experiments on garden pea plants
•Theory: Traits controlled by a single gene
•The inheritance of just one pair of contrasting characters
•Cross 2 pure breeding parents with contrasting characters
 pure-breeding x
parents
purple white

first filial (F1)

generation all purple

second filial (F2)

generation
705 purple 224 white
monohybrid ratio 3:1
 GENETIC CROSSES INVOLVING DOMINANT &
RECESSIVE ALLELES
⚫ Dominant Allele: Capital letter (A)
Recessive allele: Small letter (a)

⚫ Example:
- Guinae pigs: - Dominant allele for Black fur coat: B

- Recessive allele for white fur coat: b

Genotype Description of Phenotype
genotype (appearance)
BB Homozygous Black
Dominant
bb Homozygous white
recessive
Bb Heterozygous Black
 Mendel’s experiment
⚫ A number of different
traits that can be
studied
⚫ Plant should be self
fertilizing and have a
flower structure that
limits accidental
contact.
⚫ Offspring should be
fully fertile
 7 characters had been studied

1. Seed shape
2. Seed colour
3. Flower colour
 7 characteristics studied
4. Pod shape
5. Pod colour
 7 characteristics studied
6. Flower position
 7 characteristics studied
7. Stem height
 Principle of segregation
⚫ Monohybrid
⚫ pure breeding
⚫ self fertilization
⚫ parental generation
⚫ F1 generation
 F2 generation
⚫ P generation
⚫ smooth x wrinkle

⚫ F1 generation
⚫ all smooth

⚫ F2 generation
⚫ smooth : wrinkle
3 : 1
⚫ Note:
⚫ Larger numbers of F1/F2 closer to expected ratio
⚫ Small numbers of F1/F2 not necessarily close to
expected ratio

⚫ Why? Fertilization of egg and sperm a random event!

⚫ Expression of ratios could be in decimal, as a fraction of 1
⚫ E.g 3:1 0.75:0.25 or 1:1 0.5:0.5
 Test crosses
⚫ http://www.zerobio.com/mendel1a.htm
 Co-Dominance
⚫ When both alleles are expressed in the phenotype

⚫ Example: In some plants flower colour

⚫ Parentʼs genotype RR X WW (where R = red, W = white)
 Co-dominance in ABO Blood
groups
⚫ Blood groups is determined by the presence of antigens on
RBCs

⚫ The production of antigens is controlled by genes showing

codominance

⚫ 3 different alleles: 1. IA antigen A

⚫ 2. IB antigen B

⚫ 3. IO no antigen

⚫ Note: Antigens A and B are codominant. Absence of

antigen i.e Io is a recessive allele.
 Co-dominance in ABO Blood
groups
Blood group Antigens on RBCs Possible Blood
PHENOTYPES group
GENOTYPES
A A IAIA or IAIO
B B IBIB or IBIO
AB A, B IAIB
O none IOIO
 Sex Determination
⚫ in human: by sex chromosomes
⚫ male : XY
⚫ female : XX
• chromosomes other than sex chromosomes somatic chromosomes
which control normal body characters
• 22 pairs are identical in both sexes (human)
• autosomes
• The 23rd pair is different in male and female
• sex chromosomes
 Twins
⚫ identical twins
⚫ one embryo separates into two and each develops into a new
individual
⚫ they should have same characters and same sex

• non-identical twins
– formed from two different zygotes from two separate
fertilizations
– they usually have different characters
– they may have different sexes
 Mutation
⚫ Change in the structure of a gene (sickle cell anaemia) to
produce a new allele, or change in the chromosome
number ( Downʼs Syndrome), or change in chromosome
structure

⚫ Gene mutation: Normal circumstances DNA replicates

prior to cell division in exactly the same manner, and genes
pass on unchanged to daughter cells

⚫ - Any mistake/s in the above process (due to a randome

event) is called a “mutation”
⚫ If itʼs a gamete mutation, genetic change can be inherited
⚫ If itʼs a somatic mutation, genetic change is not necessarily
inherited and is often restricted to the somatic cell – such
as in the muscle, lungs or skin etc.

⚫ Such a mutation is eiter

⚫ A) harmful only to the cell and the cell dies, or
⚫ B) Cell carring mutation uncontrollably divides
CANCER/TUMOUR (not inherited)
 ALBINISM: ⚫ ALBINISM:
Example of ⚫ No melanin pigment in hair, skin
or eyes (Gene coding for
Genetic mutation production of melanin mutates –
becomes defective)

⚫ A rare and recessive allele

⚫ Only expressed in homozygous
recessive combination

⚫ 7/1000 human carriers

⚫ But 1/20,000 express the allele
⚫ Disadvantages: easily prone to
skin cancer due to UV rays and
retinal damage due to sunlight
exposure (choroid
non-pigmented)
 SICKLE CELL ANAEMIA
(Example of genetic
mutation)
- Affects the gene that codes for the
production of Haemoglobin
abnormal Hb
- Distorted shape
- Lower O2 carrying capacity – sickle
shape
- RBCs become more delicate, easily
burst
- Sickle cells prematurely destroyed by
spleen
- Sickle cells stick together, blocking
capillaries – joint pain
- Blood supply to brain is hampered
STROKE
 Treatments: - Regular Blood
transfusion
-Bone marrow transplant

-CODOMINANT ALLELE ( to normal Hb)

-Normal Hb = HbA
-Sickle cell Hb = Hb
Genotype HbAHbA HbAHbS HbSHbS
Phenotype Normal Hb ->50% normal Hb - Many sickle
Normal RBCs - Few shaped cells
sickle-shaped cells
Signs & Symptoms None Slight Anaemia Severe
of Sickle cell
Anaemia
⚫ Note: If two parents are heterozygous -- 25% chance of the
child having full-blown Sickle cell Anaemia (HbAHbA)
⚫ Question: Why is the sickle cell anaemic allele co-dominant and
not recessive, despite a low life expectancy?

⚫ Answer: Sickle shaped RBCs are not good/viable hosts for

malarial parasite, Plasmodium.

⚫ - In Africa, people carrying the HbAHbS allele combination were

less likely to be affected by Malaria as opposed to normal Hb
carrying (HbAHbA) patients.

⚫ Normal Hb-carrying patientsʼ RBCs act as perfect hosts for

lifecycle of plasmodium

⚫ HbAHbS bearing people have a selective advantage for Malaria

 Factors affecting Mutation
⚫ MUTAGENS: Environmental factors that increase the
chances of mutation

⚫ Examples: 1. Radiation (UV, X-rays, Gamma rays)

⚫ 2. Chemicals: Mustard gas, Nitrous oxide,
Cigarrette smoke, Tar
DOWNʼS SYNDROME - Trisomy(Example of
Chromosomal Mutation)
 DOWNʼS
SYNDROME
Extra chromosome in the 21st pair –
Three chromosomes in the 21st pair
instead of 2.
Total chromosome number per
nucleus: 47

Features:
Growth is stunted, rate of growth is
low, mental retardation ,
characteristic facial features
Low life expectancy
 VARIATION
⚫ Definition
The phenomenon of the uniqueness in genotype and
phenotype of organisms (except for clones) is called
variation.

⚫ Two types:
1. Continuous Variation

2. Discontinuous Variation
 Discontinuous variation Continuous Variation
⚫
⚫
Shows the trait with quantitative
⚫ Shows the traits with phenotypes measurements in which many classes are
that are distinct to one another possible.
and that fall into separate
contrasting categories. ⚫ It shows a gradual change over a range of
values
⚫ Examples: Examples:
- ABO blood groups - height
- Tall/dwarf pea plants - Weight
- Red/purple flowers - Lengths of leaves in trees
- Ability to roll tongue
Human skin colour
- Eye colour classified as
black/brown/blue/green IQ

⚫ - Hair colour, ear lobes, colour of Heartbeat, finger length, leaf length
 Discontinuous Variation
⚫ Controlled by a single
gene/few genes
⚫ Little affected by
environmental conditions
⚫ It can be represented by bar
chart
Continuous Variation
⚫ Controlled by many genes
⚫ Genes interact with
environment to produce such
differences
⚫ It can be represented by
histogram or curve
 Causes of Variations
⚫ Meiosis
⚫ homologous chromosomes separate independently from each other and pass
into a different gamete ( INDEPENDENT ASSORTMENT). As a result, a
great variety of gametes are produced
• Random Fertilization
• since fertilization is a random process, there are many possible different
combinations of genes in a zygote
⚫ Mutation
⚫ genetic make-up may suddenly change
⚫ sometimes occur naturally
⚫ rate may greatly increased if the organism is exposed to radiation, certain
chemicals or neutron bombardment
⚫ most mutation are harmful
• Environmental Factors
• cause variation in characters with continuous variation
 NATURAL SELECTION AND
EVOLUTION
⚫ Evolution: The changes in species of living things over a
course of time

⚫ Mechanism of evolution proposed first by Darwin

⚫ Observations:
1. Organisms produce offspring more than needed to replace
them (in one year, rabbits can interbreed to produce 500
offspring)

2. Populations still remain same size despite this

3. All species show variation.

⚫ Deductions:
1. Many offspring probably do not survive. They die due to
competition for resources. (struggle for existence)

2. Individuals best “adapted” to the environment – more

chances to survive. They will reproduce. Others die.

- survival of the fittest – not strongest

- fitness means “ measure of ability of an organism to survive

and pass on genes to offspring”
⚫ Traits giving organism a better survival chance pass on to
next generation.

⚫ Those less adapted to environment will survive and

reproduce only in small numbers.

⚫ As each generation passes – more of well adapted

organisms will breed and fewer of less adapted types are
able to survive and breed.
 NATURAL SELECTION:
⚫ “Factors in the environment “select” which forms of a species are able
to survive and reproduce.

⚫ Environmental factors include:

- Food supply

- Predation

- Disease

- Temperature

- Water supply

- Available light (for plants)

- Competition for nest sites

- Competition to find a mate

 Example of Natural Selection

⚫Species have evolved over long periods of time (millions of

years)

⚫Natural selection happens mostly in organisms with high rate

of reproduction (insects/microorganisms)
 1. Antibiotic resistance in
Bacteria
⚫ Faster rate of reproduction – effects of natural selection
very quickly

⚫ Penicillin – first antibiotic

- Initially results spectacular – no resistance from bacteria

- Soon – strains of bacteria resistant to penicillin appeared

- Penicillin became less effective

⚫ Streptomycin
– at first worked, then resistant strains of bacteria appeared.
⚫ Explanation:

- First time antibiotic is used – no resistance genes in bacteria – killed

- Mutation in bacterial DNA – gene produced to resist antibiotic

- Mutant individuals survive drug and reproduce – SELECTIVE ADVANTAGE.

- Most non-resistant bacteria – killed – SELECTIVE DISADVANTAGE

- Resistant bacteria reproduction continues – passing on genes --

increase in numbers

- Evolution by natural selection

⚫ Factors contributing to bacterial resistance
to antibiotics:
i. Widespread use
ii. Over-prescription
iii. Incomplete regimen
 2. Pesticide resistance in
mosquitoes
⚫ DDT to kill malarial mosquitoes – effective

⚫ Soon DDT-resistant strain-bearing mosquitoes appeared

⚫ Why? : carrying gene mutation making them resistant to insecticide

⚫ DDT continued to be used BUT DDT resistant strains of mosquitoes had

SELECTIVE ADVANTAGE

⚫ DDT resistant strains mosquitoes survived and bred

⚫ Non-resistant insects were killed and didnʼt breed enough– SELECTIVE

DISADVANTAGE.

⚫ Eventually, all mosquitoes were unaffected by DDT.

 3. Sickle cell Anaemia
⚫ Caused by mutated gene : codes for production of
abnormal Hb – lowers life expectancy, many homozygous
children die before maturity.

⚫ Expectation: sickle cell gene should have strong selective

DISADVANTAGE – so eliminated eventually by natural
selection

⚫ But why is it still common?

⚫ Reason: Individuals heterozygous often show no symptom
of sickle cell anaemia but being carrier of sickle cell allele
provides protection against malaria.

⚫
⚫ How?
- Malarial protozoan spends part of lifecycle inside rbc

- Sickle cell carriers rbc easily burst

- Parasite killed before development

- Heterozygotes have strong selective advantage against

malaria.

- Natural selection caused sickle cell allele to remain in

passing generations due to this advantage.
 ARTIFICIAL SELECTION
(SELECTIVE BREEDING)
⚫ Definition: Selective breeding of organisms to produce
domesticated animals and plants with more desirable
traits

⚫ Selection is not by nature/environment but by human

choice

⚫ Over years , famers have tried to improve crop plants and

domesticated animals.

⚫ Different strains of plants were crossbred to obtain larger

yields

⚫ Different animals with more milk, eggs, fur/wool and meat,

were chosen to interbreed
 Artificial Selection in Plants
CARROTS: Carrot plantsʼ tap roots: good for storing nutrients
(sugar and starch)

⚫Wild carrrotsʼ tap roots: thin, pale, lacking nutrients.

⚫Commercial carrots roots: very nutritious
 Artificial Selection in Plants
⚫ How were domesticated carrots produced from wild
variety?

⚫ Select wild carrots with largest roots

⚫ Self pollinated or crossed with plants of same
characteristics

⚫ Resulting seeds were germinated and grown

⚫ Best plants from germinated seeds , crossed again
⚫ Repeat process for several generations
⚫ Final results: all carrots with desirable traits – Large tap
 Artificial Selection in Plants
⚫ Other examples in plants:
Broccoli (flowers, buds, stems)

-Cabbages (terminal leaf bud)

cauliflowers (flower buds),

kohlrabi: derived from a Wild Mustard plant

 Artificial Selection in Plants
⚫ CROP PLANTS:
Range of desirable features of crop plants:

- High yield (e.g large grain size in cereals)

- Colourful, sweet-tasting fruits

- Disease resistance

- Damage resistance (from pest)

- Surivival in harsh climates

- Survival in drought
 Artificial Selection in Animals
⚫ Artificial selection of domesticated pigeons – variety of
traits

⚫ Farmers do it for improved varieties of domesticated

animals:

⚫ Desirable traits: a) more milk, meat eggs.

⚫ b) more fur, better quality
⚫ c) greater number of offspring

⚫ d) resistance to disease

⚫ How? By mating pairs of animals with desired

 Artificial Selection in Animals
⚫ HYBRIDISATION:
⚫ Sometimes two different varieties are mated for combined
features:

⚫ Small strain of Domestic fowl (chicken) (producing larger

eggs) crossed with large strain that produces smaller eggs

⚫ Result: Large variety that lays large eggs (offspring are

hybrids of both parents)
 Genetic Engineering
⚫ Molecular biology has developed ways faster than artificial
selection , to produce new strains of organisms.

⚫ genetic engineering/genetic modification

⚫ “technique used to transfer genes from cells of one
organism (the donor) to cells of a recipient (the host).”

⚫ Transgenic organism: Transfer of DNA to different species

of organism – the resultant organism is transgenic

⚫ Cisgenic: when genes are transferred between members of

the same species.
 Producing GM Bacteria

⚫ Bacterial cells have 2 genetic materials:

⚫ 1. DNA in a large chromosome
⚫ 2. DNA in plasmids
⚫ Plasmids key to genetic engineering: they can be used to
insert a foreign gene into a bacterial cell.

⚫ Def: Plasmid is a structure consisting of circular pieces of

DNA that acts as a vector for transferring the gene

⚫ Plasmid contains genes for survival: example: antibiotic

resistance
 Enzymes involved
⚫ For cutting genes
⚫ Restriction endonucleases (restriction
enzymes) -- to cut DNA molecule at
specific points. (CUT)
⚫ DNA Ligases – to join together cut ends
of DNA (molecular glue – PASTE)
Insulin Production
 ⚫ Human cells with genes for healthy insulin are
selected.

⚫ A chromosome (a length of DNA) is removed

from the cell.
Procedure ⚫ The insulin gene is cut from the chromosome
using restriction endonuclease enzyme.

⚫ A suitable bacterial cell is selected. Some of its

DNA is in the form of circular plasmids.

⚫ All the plasmids are removed from the

bacterial cell.

⚫ The plasmids are cut open using the same

restriction endonuclease enzyme.

⚫ The human insulin gene is inserted into the

plasmids using ligase enzyme.

⚫ The plasmid are returned to the bacterial cell

⚫ The bacterial cell is allowed to reproduce in a

fermenter. All the cells produced contain
plasmids with the human insulin gene.
 Importance of genetically
engineered Insulin
⚫ Diabetics need a source of insulin to control their blood
sugar level. In the past cow insulin has been used, but
some people are allergic to it. Human insulin produced
from genetically engineered bacteria will not trigger an
allergic reaction.

⚫ The insulin is acceptable to people with a range of religious

belief who may not be allowed to use insulin form animals
such as cows or pigs.

⚫ The product is very pure.

⚫ Human insulin can be made on a commercial scale,
reducing costs.
 ⚫Bacteriophage -- Gentically
modified for introducing genes
Other Methods into bacterial cells

⚫Agrobacterium – infects plants

and inserts its plasmids into plant
cells – vector to GM isolated plant
cells , cloned using
micropropagation.

⚫GENE GUN – fire tiny gold pellets

into pieces of plant tissue --
coated with DNA containing
desired gene. Tissue grown by
micropropagation.
Agrobacterium
 Other uses of Genetic
Engineering
⚫ Other Uses:
⚫ Medicines e.g. human growth hormone, enzymes,
antibodies, vaccines.

⚫ Commercial plants carrying resistance to insect pests,

pathogens, drought or herbicides.

⚫ Richly nutritive (more protein content and/or vitamins)

food plants.

⚫ Domestic animals, with increased milk and meat yield,

with particular nutrients or useful products.
 PROS
⚫ Production of drugs e.g Insulin cheaply and on industrial scale.
⚫ Crops with improved nutritional content
⚫ Healthier food, stays fresh for longer.
⚫ Pest resistance, Herbicide resistance
⚫ Transgenic animals used for research – source of new gene
products

⚫ Possible cures for genetic diseases e.g cystic fibrosis, cancer etc.
 CONS
Adverse effects on environment:

Possible escape of herbicide-resistance gene into weed population (cross pollination)

Examples:

1. GM crops modified by a herbicide, glyphosate. Cross pollination occurred with related

weed species, and other weeds too gained resistance to glyphosate – result:
“superweeds” unaffected by herbicide

2. Some GM crops given a toxin-producing gene to kill insects. This gene can transfer to
other plant species, causing deaths of non-target species --- result: loss of biodiversity

3. “Terminator gene”:

Some biotech companies engineered crop plants containing the terminator gene – to
prevent seeds from platns germination so a farmer has to buy fresh seeds from the
company every year
 CONS
Dangers to Health:

⚫Possible exposure to allergens in GM Food

⚫Some people severely allergic to nuts. GM food may contain
chemical s that promote this allergy

⚫Horizontal transfer of antibiotic resistance genes to

pathogenic bacteria could render antibiotics ineffective
(Genes for antibiotic resistance often used to test whether
plasmids have taken up a piece of DNA)

⚫Moral/ethical/religious reasons: against nature