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CHAPTER 19

Heredity
What happened?
What you would learn
in this section…
(19.1) Heredity
(19.2) Basic Knowledge for Studying Heredity
(19.3) Determining Genotypes
(19.4) Multiple Alleles
(19.5) Discontinuous and Continuous Variations
(19.6) Mutation
(19.7) Selection
(19.1) Heredity

Hereditary traits
• A hereditary trait is a characteristic that can be
passed on from one generation to another.
• Examples include:
- Hair type
- Shape of earlobe
- Eye colour
- Face shape
- Chin shape
- Ability to roll tongue
- Skin colour
- Blood type
(19.1) Heredity

What is Genetics?
Genetics is the study of the inheritance of characteristics
by transmission of genetic materials from one generation
to another.

Gregor Mendel, the


founding father of
modern genetics
studied monohybrid
inheritance in peas.
(19.1) Heredity

What is monohybrid inheritance?


• Monohybrid inheritance refers to the inheritance of
one characteristic that has two contrasting
forms.
• Each characteristic is gene
controlled by a single gene.
• Each gene consists of a alleles
pair of alleles.
• Alleles can be dominant
or recessive.
homologous
chromosomes
(19.1) Heredity

Mendel’s monohybrid experiment

Mendel crossed pure-bred tall pea


plants with pure-bred dwarf plants.

He planted the seeds from the cross


and observed that the resulting F1
generation hybrids are all tall plants.
tall dwarf
He allowed the F1 offspring to
tall self-fertilise and produce
seeds.
The seeds from the F1 offspring
gave rise to the F2 generation,
which produced a ratio of three tall
tall tall tall dwarf plants to one dwarf plant.
(19.1) Heredity

Mendel’s monohybrid experiment


Mendel named the trait that always appeared
in the F1 hybrids (tall) dominant and the other
(dwarf) recessive.

dominant recessive
trait trait
(19.1) Heredity

Mendel’s model of heredity

• Hereditary factors (genes) are responsible for the


transmission of characteristics.
• Each characteristic is controlled by a pair of factors in the
cells.
• If the two factors are different, only the dominant factor
will show its effect.
• The two factors separate (segregate) during gamete
formation. Each gamete will only contain one factor
(Law of Segregation).
• The random fusion of gametes ensures that the zygote
formed contains two factors.
(19.1) Heredity

Mendel’s Law of Segregation


What you would learn
in this section…
(19.1) Heredity
(19.2) Basic Knowledge for Studying Heredity
(19.3) Determining Genotypes
(19.4) Multiple Alleles
(19.5) Discontinuous and Continuous Variations
(19.6) Mutation
(19.7) Selection
(19.2) Basic Knowledge for Studying Heredity

Chromosome

A chromosome is a rod-like structure visible in the


nucleus during cell division.

It is made up of the molecule deoxyribonucleic acid


(DNA).
(19.2) Basic Knowledge for Studying Heredity

Gene

A gene is a unit of inheritance,


gene locus
born on a particular locus
(position) of a chromosome.

It is a small segment of DNA in a chromosome


chromosome that contains a
specific sequence of nucleotides
that codes for the formation of a
single polypeptide, which
determines the characteristic of
an organism.
(19.2) Basic Knowledge for Studying Heredity

Alleles

Alleles are different forms of the same


T t
gene.

They occupy the same relative positions


on a pair of homologous chromosomes.

Letters are usually used to represent


alleles.
(19.2) Basic Knowledge for Studying Heredity

Homologous Chromosomes
gene locus

Homologous chromosomes
exist in pairs.

One chromosome in the pair


comes from the male parent
and the other from the female
parent.

They have exactly the same


sequence of gene loci. paternal maternal
chromosome chromosome
(19.2) Basic Knowledge for Studying Heredity

Introduction to terms

nucleus
chromatin

gene

different
cell gene loci
homologous
chromosomes
(19.2) Basic Knowledge for Studying Heredity

Introduction to terms:
Phenotype

• The phenotype of an organism refers to its


observable traits.

• The phenotype of an organism is influenced by:


– its genotype
– the environment

Video: Genetics 101 Part 4. Stop video at 1:18 minutes


(19.2) Basic Knowledge for Studying Heredity

Introduction to terms:
Genotype
• The genotype is the genetic make-up of an organism
which is inherited from its parents.

• An organism is homozygous for a trait if the two alleles


controlling the trait are the same. The possible
homozygous combinations are:
– homozygous dominant (e.g. TT)
– homozygous recessive (e.g. tt)

• An organism is heterozygous for a trait if the two alleles


controlling the trait are different (e.g. Tt).
(19.2) Basic Knowledge for Studying Heredity

Introduction to terms:
Dominant and recessive alleles
• Alleles can exist in dominant or recessive forms.

Dominant allele Recessive allele is


is represented represented with
with an upper the corresponding
case letter. lower case letter.

• A dominant allele expresses itself in both


homozygous dominant and heterozygous conditions.

• A recessive allele will only express itself in a


homozygous recessive genotype.
(19.2) Basic Knowledge for Studying Heredity

Introduction to terms:
Dominant and reccessive alleles
P Q R
Phenotype:
physical characteristic
of the organism
a a A A A a Genotype:
genetic make-up of
the organism
homozygous heterozygous
(pure-breeding) (hybrid)

Why do plants Q and R look the same


when they have different genes?
(19.2) Basic Knowledge for Studying Heredity

Modelling genetic crosses

• Genetic models can be used to:


- explain how alleles are passed on to an offspring
- predict the traits that will be displayed by an
offspring

• The next slide uses the genetic model to explain


Mendel’s monohybrid experiment on tall and
dwarf plants.
(19.2) Basic Knowledge for Studying Heredity

Genetic diagram (TB Pg 362)


(19.2) Basic Knowledge for Studying Heredity

The Punnett square


• The Punnett square is a simpler method to determine
or explain genetic crosses.
• The Punnett squares for Mendel’s monohybrid experiment:
Parents F1 hybrid self-cross

TT  tt Tt  Tt

Gametes t t Gametes T t
T Tt Tt T TT Tt
(tall) (tall) (tall) (tall)
T Tt Tt t Tt tt
(tall) (tall) (tall) (dwarf)
What happened?
What you would learn
in this section…
(19.1) Heredity
(19.2) Basic Knowledge for Studying Heredity
(19.3) Determining Genotypes
(19.4) Multiple Alleles
(19.5) Discontinuous and Continuous Variations
(19.6) Mutation
(19.7) Selection
(19.3) Determining Genotypes

Determining genotypes
• When an organism displays the recessive trait, the
organism is a homozygous recessive.

• However, when organisms display the dominant trait,


the organism could be a heterozygous or a homozygous
dominant.

• Breeding experiments are used to identify the


genotype of an organism.
(19.3) Determining Genotypes

Test cross
A test cross is used to determine the genotype of an
organism with dominant trait by crossing the organism
with a homozygous recessive organism.

• If the organism is homozygous dominant, all the offspring


should show the dominant trait.
Phenotypes homozygous dominant homozygous recessive
and genotypes tall TT  tt dwarf
of parents
Gametes T t

Phenotype
and genotype Tt
of offspring all tall
(19.3) Determining Genotypes

Test cross
• If the organism is heterozygous, half the number of
offspring should show the dominant trait. The
remaining half should show the recessive trait.

Phenotypes heterozygous homozygous recessive


and genotypes tall Tt  tt dwarf
of parents
Gametes T t t

Genotypes
of offspring Tt tt

Ratio of phenotypes 1 tall : 1 dwarf


(19.3) Determining Genotypes

Co-dominance
• Occurs when both alleles are equally expressed
in the heterozygous condition

• Co-dominance in a short-horned cattle:


– The offspring of a homozygous red bull (CR CR)
and a homozygous white cow (CW CW) will be roan
(CR CW) with a mixture of red and white hairs.

• The ABO blood group in human is another example


of co-dominance.
Try Worked Eg 1-3

• Need to include the legend statement if


alleles are not stated by the question

• Chance has to be in %
• Probability / proportion can leave in
fraction
(19.3) Determining Genotypes

Sex determination
• Sex chromosomes are chromosomes that determine
the sex of an organism.
• Autosomes are chromosomes in cells other than the
sex chromosome.
• There are two types of sex chromosome:
– X chromosome
– Y chromosome

• Cells that produce gametes by meiosis are known as


sex cells. The other cells in the body are known as
somatic cells.
(19.3) Determining Genotypes

Sex determination
• Humans have 22 pairs of autosomes and one pair of sex
chromosomes (XY - male or XX – female) in each cell.
• Male gametes (sperms) contain either the X chromosome
or Y chromosome.
• Female gamete (eggs) contain only the X chromosome.
• Whether an X-carrying sperm or a Y-carrying sperm
fertilises the ovum determines the sex of the zygote.

Video: Genetics 101 Part 3. Play video from 0:47-1:20 min


(19.3) Determining Genotypes

Sex determination
When male and female gametes fuse during
fertilisation, there is an equal chance that the
offspring could be a male or a female.

male female
Parents XY X XX

Gametes X Y X X

Offspring XX XX XY XY

females males
What you would learn
in this section…
(19.1) Heredity
(19.2) Basic Knowledge for Studying Heredity
(19.3) Determining Genotypes
(19.4) Multiple Alleles
(19.5) Discontinuous and Continuous Variations
(19.6) Mutation
(19.7) Selection
(19.4) Multiple Alleles

Multiple alleles
• If a gene for a particular trait exists in more than two
alleles, it is said to have multiple alleles.

• For example, coat colours in rabbits is determined by


three alleles; C, ch and ca.

Phenotype Genotype C: Allele for full colour (grey coat)


Full colour CC, Cch, Cca ch: Allele for himalayan (white
Himalayan c hc h, c hc a
coat with black or dark brown
feet, ears, tail and tip of nose)
Albino c ac a
ca: Allele for albino (white coat)
The allele C is dominant over ch and ca
while the allele ch is dominant over ca.
(19.4) Multiple Alleles

Human blood groups


• Human blood group is also determined by three
alleles; IA, IB and IO.
• IA and IB are both codominant, while IO is recessive
to both IA and IB.

Blood Genotype
group
A IA IA (homozygous dominant) or IA IO (heterozygous)
B IB IB (homozygous dominant) or IB IO (heterozygous)
AB IA IB (codominant)
O IO IO (homozygous recessive)
(19.4) Multiple Alleles
Checkpoint
Is it possible for a couple with blood group A and B to have a child
with the blood group O? Explain your answer with a genetic diagram.

Parents’ phenotype blood group A X blood group


Parents’ genotype IA IO IB
B IO

Gametes IA IO IB IO

F1 genotype I A IB IA IO IB IO IO IO
F1 phenotype blood blood blood blood
group AB group A group B group O

ratio AB: A:B:O


1 :1 :1 :1
It can be difficult to express in words
2013/P2A/6 the explanations, thus students
should try by stating the particular
alleles that were being passed on.
• Individual 1 has the Bb genotype.
• Individual 5 has blue eyes, which is expressed in the homozygous
recessive condition, thus she must have inherited one recessive
blue eye allele / recessive b allele each from both of her parents
(individual 1 and 2)
• Individual 1 has brown eyes, hence she would have the dominant B
allele

• Individual 10 has Bb genotype


• Individual 4 has blue eyes, which is expressed in the homozygous
recessive condition give individual 10 one recessive blue eye
allele
• Individual 10 has brown eyes  have the dominant B allele
What you would learn
in this section…
(19.1) Heredity
(19.2) Basic Knowledge for Studying Heredity
(19.3) Determining Genotypes
(19.4) Multiple Alleles
(19.5) Discontinuous and Continuous Variations
(19.6) Mutation
(19.7) Selection
(19.5) Discontinuous and Continuous Variations

Variations
• Variations are differences in traits between
individuals of the same species.

• The traits of an individual is dependent on


interactions between the genes and the
environment.

• Genetic variation is heritable, but variations due to


the environment are not.
(19.5) Discontinuous and Continuous Variations

Variations
• Discontinuous variation is brought about one or a few
genes.
• Continuous variation is brought about by the additive effect
of many genes.

Discontinuous variation Continuous variation


Number of individuals

Number of individuals
double-eyelids
in a population

in a population
single-eyelid

Dark skin Fair skin


(19.5) Discontinuous and Continuous Variations

Comparing discontinuous and


continuous variations
Discontinuous variation Continuous variation
Deals with a few clear-cut Deals with a range of
phenotypes phenotypes
Controlled by one or a few Controlled by many genes
genes
Genes do not show additive Genes show additive effect
effect
Not affected by environmental Affected by environmental
conditions conditions
Examples include eye colour Examples include height and
and blood group skin colour
Which of the following is/are
example(s) of discontinuous variation?
1. Blood groups
2. Finger prints
3. Lengths of fingers
4. Tongue rolling
5. Sensitivity of taste buds
6. Ear lobes Answer: C

A. (1), (3) and (5) C. (1), (2), (4) and (6)


B. (1), (2) and (6) D. (1), (2), (3) and (5)
What you would learn
in this section…
(19.1) Heredity
(19.2) Basic Knowledge for Studying Heredity
(19.3) Determining Genotypes
(19.4) Multiple Alleles
(19.5) Discontinuous and Continuous Variations
(19.6) Mutation
(19.7) Selection
(19.6) Mutation

Mutation

• Definition:
A sudden, random or a spontaneous change in the
structure of a gene or in the chromosome number in
the nucleus which would affect the phenotype of an
individual.
(19.6) Mutation

Types of mutation
• Mutation occurs as a result of error during the
replication of the gene or chromosome.

• Somatic mutations that occur in normal body cells


cannot be inherited.

• Mutations may be inherited by the next generation if


they occur in cells that give rise to gametes.

• Dominant mutations are easily detected unlike


recessive mutations, which may not be detectable for
generations.
(19.6) Mutation

Types of mutation
• Chromosome mutation
– change in number of chromosomes
– causes Down’s syndrome

• Gene mutation
– change in the structure of DNA
– produces variation between individuals as it results
in new alleles of genes
– causes albinism and sickle-cell anaemia
(19.6) Mutation
Chromosome mutation
Down’s syndrome
• Humans normally have 46 chromosomes in their body cells.
• People with Down’s syndrome have 47 chromosomes.
• They have an extra copy of chromosome 21.

(Right) Karyotype of female


with Down’s syndrome.
Down’s syndrome is also
known as Trisomy 21.
(19.6) Mutation

Chromosome mutation
Down’s syndrome
• Chromosome mutation in the gametes of a female
parent can produce a child with Down’s syndrome.
Male Female
Normal body cell has
X
two copies of
chromosome 21

One of the eggs has


two copies of
chromosome 21
mutation
Zygote formed has
three copies of
chromosome 21
(19.6) Mutation
Gene mutation
Albinism
• Caused by mutation in a recessive allele
• The absence of the pigment melanin results in reddish-white skin,
white hair and pink eyes.

• Albinos get sunburn easily as they are very sensitive to sunlight.


(19.6) Mutation
Gene mutation
Sickle-cell anaemia
• Caused by mutation in the gene
controlling haemoglobin production
• The mutated gene is recessive,
hence only expressed in
homozygous recessive condition.
• Sickle-shaped red blood cells have Individuals with the mutated
low oxygen carrying capacity and gene produces Haemoglobin
tend to clump together. S (HbS) and not Haemoglobin
A (HbA). HbS molecule has a
• This disease is fatal and sufferers different three dimensional
shape making the red blood
usually die young.
cell sickle-shaped under low
oxygen conditions.
Sickle
Farmer harvesting paddy in a rice field using
a sickle.
(19.6) Mutation

Gene mutation

Sickle-cell anaemia
• Individuals who are heterozygous for the sickle-cell allele
are more resistant to malaria.
• Hence, heterozygous individuals are common in areas
where malaria is prevalent such as West Africa.
• However, convincing evidence indicates, in areas with
persistent malaria outbreaks, individuals with the heterozygous
state have a distinct advantage
• Those with the benign sickle trait possess a resistance to malarial
infection. The pathogen that causes the disease spends part of its
cycle in the red blood cells and triggers an abnormal drop in
oxygen levels in the cell. In carriers, this drop is sufficient to trigger
the full sickle-cell reaction, which leads to infected cells being
rapidly removed from circulation and strongly limiting the
infection's progress.
• These individuals have a great resistance to infection and have a
greater chance of surviving outbreaks. However, those with two
alleles for SCA may survive malaria, but will typically die from their
genetic disease unless they have access to advanced medical
care. Those of the homozygous "normal" or wild-type case will
have a greater chance of passing on their genes successfully, in
that there is no chance of their offspring's suffering from SCA; yet,
they are more susceptible to dying from malarial infection before
they have a chance to pass on their genes.
(19.6) Mutation

Mutagenic agents
Mutagens

Radiation Chemicals
- UV light, X-ray - mustard gas
- alpha and beta radiation - formaldehyde
- gamma rays - lysergic acid diethylamide
(LSD)
• Mutagens can greatly increase the rate of mutations.

• In the absence of mutagens, rate of spontaneous


mutation is extremely low.
(19.6) Mutation

Mutation and selection


• Mutations can be harmful or beneficial.
- Individuals with harmful mutation will be eliminated.
- Individuals with beneficial mutation on the other hand
may leave more offspring than normal individuals.

• Nature ‘selects’ organisms with more favourable


characteristics to survive and reproduce.
Using named examples, explain what is meant
by a mutation (2017 P2 Q10 OR).
• Mutation is a sudden random spontaneous change in the structure
of a gene or in the chromosome number in the nucleus. [1]
• Down syndrome is example of a change in chromosome number. [1]
People with Down syndrome have 3 copies of chromosome 21
instead of 2 copies.[1]
• An example of a gene mutation is albinism [1], a condition caused
by a recessive mutant allele. It is characterized by the absence of
pigments in the skin, hair and eyes. [1] OR
• Another example of a gene mutation is sickle-cell anaemia. [1]
There is a change in the nucleotide sequence within the
haemoglobin gene, resulting in the production of a faulty
haemoglobin protein, causing sickle cell anaemia where red blood
cells are sickle shaped / not able to transport oxygen effectively. [1]
[Max 3 for examples]
What you would learn
in this section…
(19.1) Heredity
(19.2) Basic Knowledge for Studying Heredity
(19.3) Determining Genotypes
(19.4) Multiple Alleles
(19.5) Discontinuous and Continuous Variations
(19.6) Mutation
(19.7) Selection
Questions to consider for
Worksheet 5b)
• What resulted in the appearance of black
bodied flies?

• If mutation happened spontaneously at a


low level, what caused the black-bodied
flies to be present in such a huge
proportion compared to grey bodied
individuals?
4FK sample answers
4FK sample answers
4FK sample answers
• Who decides whether the organisms will
survive?
• How does the environment do it?
• Do organisms mutate to suit the
environmental change?
• How is this survival of organisms significant to
the overall population on a larger scale?

 survive to reproduce and pass on their


desirable trait to the next generation.
this is evolution: shift in genetic make-up of the
population

• Students to modify their answers to the


question using the theory of natural selection.
(19.7) Selection

Variation
• Variations in organisms may arise due to:
- crossing over and independent assortment of
chromosomes and during meiosis
- mutation in genetic material

• Mutation provides new alleles to the gene pool for natural


selection to act on. Note:
A gene pool is the combination of
all the alleles of all genes of a
particular species.
• Genetic variation is important to help organisms adapt
and survive in changing environments.
(19.7) Selection

Natural selection
• Natural selection is a process that ensures the best
adapted organisms in a species survive to reproduce and
pass on their traits to the next generation.

• Nature selects varieties of organisms that are:


– more resistant to diseases
– better adapted to changes in the environment

• The process by which present complex forms of living


organisms have arisen from simpler ancestral forms is
known as evolution.
How do mutations and natural
selection lead to evolution?
• Random mutation can result in new alleles and hence increased
variety of traits within a species.
• As organisms compete for limited resources (describe the
survival advantage ),
• varieties that are better adapted are more likely to survive and
reproduce,
• To pass on the desirable trait to the next generation
• Over many generations, there is a shift in the genetic make-up
of the population, with majority possessing the (desirable) trait
OR
• resulting in the accumulation of the (desirable) traits over many
generations
TYS Question on Natural Selection

• 2020 /P2/ 8a
Explain how mutation and natural selection
result in the higher occurrence of sickle-cell
anaemia allele in malaria-stricken countries?
• Sickle-cell anaemia is a result of a gene mutation in the
haemoglobin gene which
• causes the RBC to be sickle-cell shaped, affecting their
ability to transport oxygen.
• However, people who are heterozygous for the sickle-
cell allele are more resistant to the malaria pathogen
• Hence these individuals have better chances of
survival and reproduction as compared to normal
individuals, particularly in malaria prone areas
• Resulting in the accumulation of sickle-cell allele over
many generations
(19.7) Selection Need to know 1
example for natural
selection

Natural selection
Galapagos finches
Typical mainland type (ancestral)

large ground cactus warbler insectivorous vegetarian woodpecker


finch ground finch finch tree finch tree finch finch

short, long, slender slender parrot-like curved large straight


straight beak beak beak beak parrot-like beak
beak

large cactus flower flying large buds and insect


seeds with nectar insects insects fruit larvae
(19.7) Selection
Galapagos finches
Explanation of Darwin’s observations at the Galapagos Islands:
• Ancestor finches came from the South American mainland.
• Finches at the Galapagos Islands reproduced rapidly, resulting
in competition for food.
• Variations occurred and finches with beaks suited for a
particular diet on the islands are selected for by the environment.
• Finches that are selected for by the environment survived and
reproduced successfully.
• Eventually, six major types of finches evolved, each of which is
adapted to a particular food source.

The process whereby a common ancestor evolves into several


different species, each adapted to a particular environmental
niche, is known as adaptive radiation
(19.7) Selection

Mechanism of evolution
Organisms reproduce rapidly as food supply is abundant.

Spontaneous mutation takes place, resulting in variation in the


organisms.

Organisms migrate to different environments.

Favorable traits will confer a selective advantage and


such organisms will survive, reproduce and pass on their
favorable genes to their offspring.

These organisms become the


predominant species in their environment.
(19.7) Selection

Artificial selection
Plants and animals with desirable traits can be artificially
selected through selective breeding.

Video: Meet
The Super
Cow
(19.7) Selection

Artificial selection
• Examples of desirable traits in:
plants are high oil content in seeds, disease resistance,
sweet fruit
animals are good meat, high milk production, good quality
fur

• Hybridisation is the process of cross breeding two


different varieties of plants/animals, each with their own
favorable trait, to produce offspring with both the favourable
traits.
• For example, a rice plant that produces grains with high
nutrition content can be crossed with another rice plant that
is resistant to pests to produce a hybrid that has grains with
high nutrition content and resistance to pests.
(19.7) Selection

Comparing natural selection


and artificial selection

Natural selection Artificial selection

Results from mutations in Results from manipulation


gene by humans through
selective breeding
Brought about by changes Humans select organisms
in environmental with desired traits to
conditions reproduce
Very slow process Relatively faster process

May be advantageous or Advantageous to man


harmful to man

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