Supplementary notes Name: _________________ Class: ____ ( )

Ch 26 Basic genetics
n Genetics is the study of heredity and variations.
n Heredity: passing on of characteristics from parents to offspring.
n Variations: ae the differences among individuals of a species.

26.1 Mendel’s laws of inheritance

n In the past hundreds of years, many scientists studied how characteristics (traits) are inherited
from parents to offspring. Gregor Mendel’s experiment was one of the most important studies.

A Monohybrid inheritance
1 Mendel’s experiments (performed many breeding experiments on garden pea plants)
n Monohybrid inheritance: Mendel started off with experiments on the inheritance of single
pair of contrasting characters: tall and short stems of garden pea plants. Procedure:
F1 = first filial generation
Œ Artificial 
cross-pollination fertilization F1 plants: all tall
collect seeds
produced
and sow
them

stamen paper
bag

Remove immature Dust pollen grains Enclose the flower The plants produced is called
stamens before they of pure-bred tall in a bag to prevent the first filial generation or F1
can produce pollen plants onto the further unwanted generation. All the F1 plants
grains to prevent stigmas of pure-bred pollination and wait were tall.
self-pollination. short plants, and for fertilization to
vice versa. occur.
*pure-breeding
Ž (homozygous)  F2 plants: about 3 tall to 1 short
F1 generation

collect seeds
paper bag produced and
sow them
self-pollination
& fertilization
The plants in the second filial
generation or F2 generation contained
Enclose the flower of F1 plant in a bag to prevent 787 tall plants and 277 short ones.
unwanted pollination and wait for fertilization to occur.

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Supplementary notes

n Summary of the two crosses:

Parents tall short
Í
(pure-bred) (pure-bred)

cross-pollination and fertilization

F1 all tall
self-pollination and fertilization

F2 787 tall : 277 short

Ratio 3 : 1
n Mendel obtained very similar results when he carried out a large number of breeding
experiments (other monohybrid crosses) using pea plants with different pairs of contrasting
characters. He noticed a similar pattern of inheritance:
Characteristics Parents F1 F2 F2 ratio
(pure-bred)
Shape of seed Round x Wrinkled All round 5474 round : 2.96 : 1
1850 wrinkled
Colour of seed Yellow x Green All yellow 6022 yellow : 3.01 : 1
2001 green
Colour of Purple x White All purple 705 purple : 3.15 : 1
flowers 224 white
Shape of pods Inflated x All inflated 882 inflated : 2.95 : 1
Constricted 299 constricted
Ø Only one of the two contrasting characters was seen in the F1 generation, the other
contrasting character was hidden / disappeared.
Ø The hidden character reappeared in the F2 generation. The ratio of the two characters
in F2 generation was always about 3 : 1. (monohybrid ratio)

à During Mendel’s time, many people believed that inheritance involved a blending of
paternal characteristics (the Blending Theory). The F1 generation in Mendel’s experiment
disproved this.

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Supplementary notes

Interpretation of Mendel’s experimental results

n Mendel worked out a possible explanation based on the results by logical deduction.
n He proposed that inherited characteristics are controlled by a pair of ‘hereditary factors’.
(i.e. a factor for tallness and a factor of shortness à current term: alleles)
n NOS: success of scientific investigation is the result of dedication, ingenuity, and luck
n NOS: Larger sample size, random samples and repeated measurement are important in
reducing the chances of drawing incorrect conclusions.

History
n Mendel published his findings in a scientific journal in 1866, but it went unnoticed for about
35 years. Possible reasons:
1) Mendel’s low social profile
2) Mendel’s idea was different from the majority view of the scientific community (blending
theory)
3) Scientists of that time had very little knowledge of inheritance, little evidence to support
his idea. (People did not understand about the DNA, chromosomes, or meiotic cell division
à current: basic unit of heredity is a gene - a segment of a DNA molecule on a
chromosome that controls a particular characteristic.

gene

chromosome DNA molecule

‡ A gene on a chromosome

Introduction of gene and allele

n A gene can exist in two or more alternative forms called alleles.
n Alleles occur at the same position / locus on a pair of homologous chromosomes.
n The position of a gene on a chromosome is called a gene locus.
Ø If the two alleles are the sameà the individual is said to be homozygous for the
characteristic, and the individual is called a homozygote.
Ø If the two alleles are differentà the individual is said to be heterozygous for the
characteristic, and the individual is called a heterozygote.

3
Supplementary notes

paternal maternal
chromosome chromosome
Different locus of the
genes determining
different characteristics same alleles
the individual is homozygous
for these characteristics
each pair are alleles
of a gene; each gene
controls a different
characteristic
different alleles
the individual is heterozygous
for this characteristic

‡ Three pairs of alleles at three different gene loci on a pair of homologous chromosomes

n Now: The results of Mendel’s experiment can be explained in terms of alleles, genes,
chromosomes and meiotic cell division.

Why are all F1 plants tall?

ΠThe height of a pea plant is controlled by a pair of alleles.
T and t are used to represent the alleles for tallness and shortness respectively.
Since the parent plants are pure-bred, the tall plant possesses two tall alleles while the short
plant possesses two short alleles.
à The genotypes (genetic make-up) of them are TT and tt respectively.
 During gamete formation (i.e. meiotic cell division), alleles of a homologous pair separate
so that each gamete receives only one allele from each pair.
This is known as the Mendel’s first law of inheritance, or the Law of Segregation.
à All the gametes produced by tall parent plant contain an allele T, and all the gametes
produced by the short parent plant contain an allele t.

meiosis I: meiosis II:

homologous sister
a pair of chromosomes chromatids
alleles separate separate

DNA
replicates

each gamete receives

‡ Separation of alleles during gamete formation (only one pair of alleles) only one allele

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Supplementary notes

Ž Fertilization of gametes from the two parent plants results in the F1 generation with the allele
combination Tt.
à The phenotype (observable character) of these plants is tall because allele T masks the
expression of allele t. Allele T is said to be dominant while allele t is recessive.
à F1 plants are also called hybrid as they are produced by crossing two homozygous parents.
Production of F1 generation

graphical representation events at chromosome level

tall short tall short

Œ parents TT × tt Œ parents ×

gamete formation
(meiotic cell division)

 gametes T t  gametes

fertilization

Ž F1 Tt Ž F1
tall tall
‡ Explanation of the cross between parent plants in Mendel’s experiment

Production of F2 generation

graphical representation events at chromosome level

tall tall tall tall

F1 Tt × Tt F1 ×

gamete formation
(meiotic cell division)

 gametes T t T t  gametes

fertilization

 F2 TT Tt Tt tt  F2

tall short tall short

‘ ratio 3 : 1 ‘ ratio 3 : 1

‡ Explanation of the cross between F1 plants in Mendel’s experiment

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Supplementary notes

Why do the characters of F2 plants show a ratio of about 3 : 1?

 As the F1 plants possess two different alleles for the height of a plant, they produce two
type(s) of gametes that contain either allele T or t.
 There are four possible combinations of alleles when random fertilization of gametes from
two F1 parents occurs.
‘ A dominant allele can express itself in both homozygous or heterozygous conditions, while
a recessive allele can only express itself in a homozygous condition.

2 Other examples of monohybrid inheritance

- Controlled by single gene
Shape of hairline Earlobe Shape of thumb

Dominant character Widow’s peak Free earlobe Straight thumb

Recessive character Straight hairline Attached earlobe Hitchhiker’s thumb

* Misconception: characters due to dominant alleles are more common than those due to
recessive alleles. E.g. six-toed foot (dominant) is less common than normal feet (recessive)

Summary of the key terms in genetics

Chromosomes A thread-like structure made of DNA wrapped around proteins
Gene A segment of a DNA in a chromosome that determines a particular characteristic
of an organisms by controlling the types and amount of protein made
Locus The position of a gene on a chromosome. The alleles lie at the same locus on a
pair of homologous chromosome.
Allele One of the alternative forms of a gene: an individual inherits two alleles for each
gene, one from each parent.
Genotype Genetic make-up of an individual
Phenotype Observable characteristics of an individual
Homozygous The condition in which an organism has the same allele for a particular
characteristic
Heterozygous The condition in which an organism has two different alleles for a particular
characteristic
Dominant An allele expresses itself in both homozygous and heterozygous condition
Recessive An allele is masked in a heterozygous condition, expresses itself only in
homozygous condition

6
Supplementary notes

Extended learning
- Inheritance of the colour of maize grain is an example of monohybrid inheritance. E.g. The
allele for dark-coloured grains is dominant over the allele for light-coloured grains. The grains
can be counted easily.

3 Graphical representation of a monohybrid cross

n Genetic diagram and Punnett squares can be used to predict the possible genotypes or
phenotypes of the offspring and the probability of each genotype or phenotype appearing in
the offspring.

n Drawing a Genetic diagram

Consider a cross between a couple having free earlobes. Both are heterozygous. Free earlobes is
the dominant character whereas attached earlobes is recessive.

Let F be the allele for free earlobes

And f be the allele for attached earlobes.

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Supplementary notes

n Drawing a Punnett square

Consider a cross between two pea plants with purple flowers. Both are heterozygous. Purple
flowers is a dominant character whereas white flower is recessive.

Let F be the allele for purple flowers

And f be the allele for white flowers.

n It is important to note that:

1 The outcome of any cross is not related to that of any other. This is because each cross
is an independent event. (Fertilization of gametes is random)
2 It is possible to predict the proportion of offspring that will have a certain genotype or
phenotype, provided that the sample size is large. (Find the expected number)
3 Genetic diagrams and Punnett squares only give expected results. If a large number of
offspring are produced, the observed results will be very close to the expected results.

4 Test cross for monohybrid inheritance

n A test cross can be carried out to identify whether an organism with a dominant character is
homozygous or heterozygous.
n This can be done by crossing the organism of an unknown genotype with a homozygous
organism.

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Supplementary notes

n Example of a test cross to identify the genotype of a plant having purple flowers (the
dominant character, genotype could be FF or Ff) by crossing it with a plant having white
flowers (homozygous recessive, genotype ff):
Ø Let F represent the allele for purple flowers and f represent the allele for white flowers.
Case 1: If the genotype of the plant being tested is FF

plant being tested homozygous recessive plant

FF × ff

gametes F f

F1 genotype Ff

phenotype Purple flowers

(all offspring)

Case 2: If the genotype of the plant being tested is Ff

plant being tested homozygous recessive plant

Ff × ff

gametes F f f

F1 genotype Ff ff

phenotype Purple flowers white flowers

ratio 1 : 1

n From the above results, we can see that:

Ø Case 1: If only plants having purple flowers appear in the offspring, the plant being
tested is probably homozygous dominant.
Ø Case 2: If plants having white flowers appear in the offspring, the plant being tested is
probably heterozygous.

Quick check MC
Q1: In guinea pigs, the fur colour is controlled by a pair of alleles. The allele for black fur is
dominant while the allele for brown fur is recessive. Guinea pigs which are heterozygous for fur

9
Supplementary notes

colour are allowed to breed and 160 offspring are produced. How many of them are expected to
have brown fur?
A. 0 B. 40 C. 80 D. 120

Q2: The fur length of a certain kind of cat is controlled by a pair of alleles. When a cat with long fur
is crossed with a homozygous recessive short fur cat, the two kittens produced have long fur. Which
of the following is/are the conclusion(s) that can be drawn?
(1) The parent with long fur is homozygous.
(2) The two kittens have the same type of genotype of fur length.
(3) The next kitten produced must have long fur.
A. (1) only B. (2) only C. (3) only D. (1) and (2) only

B Dihybrid inheritance
n Mendel also did experiments on the inheritance of two pairs of contrasting characters at the
same time [Dihybrid inheritance]. He wanted to find out if the inheritance of one
characteristic influences the inheritance of another characteristic.
n In one of his experiments, he looked at both the shape and the colour of seed of pea plants:
pure-bred pure-bred
round and yellow wrinkled and green

parents ×
cross-pollination
and fertilization

All the F1 plants had all

F1
round and yellow seeds

self-pollination
and fertilization

F2
There are 4 types of seeds
320 104 101 26 in the F2 generation.
round round wrinkled wrinkled
and yellow and green and yellow and green

n Mendel proposed another hypothesis to explain the results. This is known as the Mendel’s
second law of inheritance, or the Law of independent assortment. It states that the
separation of alleles of one gene is independent of the separation of alleles of other genes
during gamete formation.

Interpretation of Mendel’s experimental results

n The shape of seed is controlled by a pair of alleles. The colour of seed is controlled by
another pair of alleles on a different pair of homologous chromosomes.

10
Supplementary notes

n We use R to represent the allele for round seed and r to represent the allele for wrinkled seed;
Y to represent the allele for yellow seed and y to represent the allele for green seed.
ΠThe genotypes of pure-bred parent plants are RRYY and rryy respectively.
 During meiotic cell division, alleles of each gene separate so that each gamete receives only
one allele from each pair. Each parent produces one type of gamete (RY or ry).
Ž Fertilization of gametes results in the F1 generation with the allele combination RrYy. All
the F1 plants have round and yellow seeds. (alleles R and Y are dominant over alleles r and y)

graphical representation events at chromosome level

round and yellow wrinkled and green round and yellow wrinkled and green

parents RRYY × rryy parents ×

gamete formation
(meiotic cell division)

gametes RY ry gametes

fertilization

F1 RrYy F1

round and yellow round and yellow

‡ Explanation of the cross between parent plants in Mendel’s experiment

 In the F1 plants, the alleles of the two genes are assorted independently during gamete
formation. This results in the production of four types of gametes: RY, Ry, rY and ry.

round and yellow

RrYy

two possible
arrangement of
chromosomes
meiosis I

meiosis II

gametes

RY ry rY Ry
four possible combinations of alleles in gametes
‡ Alleles of two genes on different homologous chromosomes are assorted independently
during gamete formation

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Supplementary notes

 There are 16 possible combinations of alleles when random fertilization of gametes from the
two F1 parents occurs. Four phenotypes appear in the F2 generation.
F2 RY Ry ♀ rY ry
RRYY RRYy RrYY RrYy
RY

RRYy RRyy RrYy Rryy

Ry

♂
RrYY RrYy rrYY rrYy
rY

RrYy Rryy rrYy rryy

ry

Phenotypic ratio round and yellow round and green wrinkled and wrinkled and
: : :
(R-Y-) (R-yy) yellow (rrY-) green (rryy)
9 : 3 : 3 : 1
‡ Punnett square showing the possible combinations of alleles in the F2 generation

Extended learning - linked genes

n If the alleles of genes for the shape and the colour
of the seed of the pea plants (in the cross between F1
plants in Mendel’s dihybrid experiment) were located
on the same pair of homologous chromosome, the
alleles tend to stay together during meiotic cell
division and enter the same gamete. There are two
possible combinations of alleles in the gametes,
instead of four. They are called linked genes.
n However, sometimes crossing over may occur
between homologous chromosomes, resulting in new
combination of alleles in gametes.

12
Supplementary notes

26.2 Inheritance in humans

A Inheritance of blood groups
n When people lose a large amount of blood, eg. in a car accident, blood transfusion is needed
to save their lives. (a donor and a recipient with compatible blood groups)
n Blood groups are determined by the type of antigen on the surface of red blood cells.

Blood group A B AB O

Antigen on red Antigen A Antigen B Antigens A and B None

blood cells

Antibody in plasma Anti-B Anti-A None Anti-A and

anti-B

Can receive blood Blood groups A Blood groups B Blood groups Blood group O
from people with and O and O A, B, AB and O

Can donate blood Blood groups A Blood groups B Blood group AB Blood groups
to people with and AB and AB A, B, AB and O

n Anti-A antibodies: act against antigen A, anti-B antibodies: act against antigen B
à causing clumping of blood cells or haemolysis.
n If recipient’s blood contains antibodies that will act against the antigens on the red blood
cells of the donor’s blood, the donor’s blood is said to be incompatible with the recipient’s
blood à Incompatible blood group blood transfusion can be fatal.
n People (blood group AB): universal recipient - can receive blood of any blood groups.
n People (blood group O): universal donor - can donate blood to people of any blood groups.
n Genes with more than two alternative forms are said to have multiple alleles.
IA causes the production of antigen A.
IB causes the production of antigen B.
i causes no production of antigen.
n The production of antigens A and B is controlled by a single gene. Since humans have two
sets of chromosomes in body cells, each person can possess only any two of the three alleles.
n According to the statistics released by Hong Kong Red Cross, the percentages of Hong Kong
population having blood groups A, B, AB and O are 26%, 26%, 7% and 40% respectively.
Allele Responsible for the production of… Dominant or recessive

IA Antigen A Co-dominant
IB Antigen B (equally dominant)

i Not responsible for producing antigens Recessive

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Supplementary notes

n Possible genotypes of people of different blood groups:

Blood group
A B AB O
(phenotype)

Antigen produced Antigen A Antigen B Antigens A and B None

Possible genotype IAIA and IAi IBIB and IBi IAIB ii

n If the genotypes if the parents are known, we can draw a genetic diagram or Punnett square
to predict the possible blood groups of the offspring. The possible blood groups of the baby
of a man who is heterozygous for blood group A and his wife who is heterozygous for blood
group B:
blood group A blood group B

Parents IAi × IBi

Gametes IA i IB i

F1 genotype IAIB IAi IBi ii

Phenotype blood group blood group blood group blood group

AB A B O

Ratio 1 : 1 : 1 : 1

n From the genetic diagram, we can see that the baby will have a 25% chance of being blood
groups A, B, AB and O respectively.

n Extended learning - Rh blood group

- another commonly used blood group system.
- A person is Rh positive: a certain protein (RhD antigen) is present on the surface of RBC, and a
person is Rh negative: absent of protein. The production of RhD antigens is controlled by a gene
with two alleles.

14
Supplementary notes

B Sex determination
n In the somatic cells in our body, there are 23 pairs of homologous chromosomes.
n 22 pairs (autosomes) are the same in males and females. The two members of each pair of
autosomes have same size and same shape in each cell.
n 23rd pair of chromosomes (sex chromosomes). They determine the sex of an individual.
Ø Each somatic cell of a male: one X chromosome + one Y chromosome.
Ø Each somatic cell of a female: two X chromosomes.
Ø X chromosome is larger than Y chromosome, carrying more genes than Y chromosome.
Ø Extended learning: Y chromosome carries a SRY gene which plays a key role in the
development of testes of a male embryo in six-week-old. Then the testes will produce
male sex hormone. Without this gene, the embryo will develop into a female.

n Females produce only one type(s) of ova: All of them carry an X

chromosome.
n Males produce two type(s) of sperms: half of the sperms carry an
X chromosome while the other half carry Y chromosome.
n The sex of a baby is determined by the type of sperms that is
involved in fertilization:
Ø If the ovum is fertilized by an X-bearing sperm
à the zygote develops into a girl
Ø If the ovum is fertilized by a Y-bearing sperm
à the zygote develops into a boy
n Sperms carrying an X chromosome or Y chromosome are produced in equal proportions,
and fertilization is a random process à the chance of having a boy or a girl for each birth is
the same (50%).

C Inheritance of sex-linked characteristics

n Genes on the sex chromosomes and the characteristics they control are said to be sex-linked.
The sex-linked genes that are located on the X chromosome are called X-linked genes.
n Red-green colour blindness is a genetic disorder caused by a recessive allele on the
X chromosome. (Cause: deficiency or defect of cone cells)
n Let B represent the allele for normal colour vision and
b represent the allele for red-green colour blindness.

15
Supplementary notes

Genotype Phenotype

XB XB Normal colour vision

Female XB Xb Normal colour vision *(a carrier)

XbXb Red-green colour-blind

XBY Normal colour vision

Male
XbY Red-green colour-blind

*Carrier is an individual carrying allele for a defective condition (i.e. red-green colour blindness),
however the individual does not suffer from condition because the recessive defective allele is
masked by a normal dominant allele. He/she may pass the defective allele on to the offspring.

n Genetic diagrams - show how alleles for red-green colour blindness are passed on to offspring
n Since females have two X chromosomes, a female will be red-green colour-blind only if she
inherits two chromosomes carrying the recessive allele. (Affected females inherit one
recessive allele from each parent.)
n Males have one X chromosome and one Y chromosome, a male having one recessive allele
on X chromosome (mother) will be red-green colour-blind (X-linked gene).
à This explains why red-green colour blindness is more common in males.
Case 1: Red-green colour-blind father × mother with normal colour vision

red-green colour-blind male normal colour vision female

Parents XbY × XBXB

Gametes Xb Y XB

F1 genotype XBXb XBY

Phenotype normal colour vision normal colour vision

(female carrier) (male)

Ratio 1 : 1

n A father must pass on / inherit his X chromosome to his daughters. à The daughters
must receive an allele for the disease from a diseased father.
n A father must pass his Y chromosome on to his sons. à Due to X-linked gene, the sons
will not receive an allele for the disease from a diseased father.
n A male can inherit red-green colour blindness from his mother but not from his father as
his X chromosome must come from his mother.

16
Supplementary notes

Case 2: Father with normal colour vision × red-green colour-blind mother

normal colour vision male red-green colour-blind female

Parents XBY × XbXb

Gametes XB Y Xb

F1 genotype XBXb XbY

Phenotype normal colour vision red-green colour-blind

(female carrier) (male)

Ratio 1 : 1

n A mother passes an X chromosome on to both her sons and daughters. à Both the sons
and daughters receive an allele for the disease from a diseased mother.
n The sons’ X chromosomes must come from their mother à All the sons of a diseased
mother must have the disease.
n The daughters receive an X chromosome from both their father and mother à
Daughters will have normal colour vision, but she will be carrier, if their father has
normal colour vision.

17
Supplementary notes

n Glucose-6-phosphate dehydrogenanse (G6PD) deficiency and muscular dystrophy are also

examples of X linked genetic disorder.
n Y-linked genetic disorder are rare because there are fewer genes on the Y chromosomes (Y
chromosomes: fewer than 100 genes, while X chromosomes: about 1100 genes) and many of
them are also carried by the X chromosome

D Studying inheritance in humans using pedigrees

n showing the inheritance of a characteristic in a family over several generations
n Example of a pedigree showing the inheritance of a six-toed foot in a family:

Each generation is indicated by a

Roman numeral. Males are usually represented by squares
and females by circles.

I
A horizontal line connecting
Each individual is indicated 1 2 a male and a female represents
by an Arabic numeral marriage.
(or a name).

II

3 4 5

Vertical lines and a bracket connect

Key: parents and their children.

male with normal feet male with a six-toed foot

female with normal feet female with a six-toed foot

n By tracing the pattern of inheritance of a characteristic through a pedigree, we can:

Ø find out if the allele for a character is dominant or recessive.
Ø deduce the possible genotypes of a certain individual.
Ø predict the chance of appearance of a certain character in the next generation

Example: Albinism (inherited condition characterized by a lack of pigment in the hair, skin and eye,
caused by recessive allele) Hints for analyzing:
1) An individual showing a dominant character may be homozygous or heterozygous.
2) An individual showing a recessive character must be homozygous. He/she must have
inherited one recessive allele from each parent.
3) When both parents showing the same character have children of a different character,
both parents must be heterozygous.

18
 IV Genetics and Evolution

Learning through examples Skill builder Skill practice

The pedigree below shows the inheritance of curly and straight hair in a family. The characteristic is
controlled by a pair of alleles on autosomes.

Cross I Key:

male with straight hair

1 2
female with straight hair

Cross II Cross III

male with curly hair

3 4 5 6 7 female with curly hair

8 9

a i Which of the crosses allows you to deduce which character is dominant? (1 mark)
ii Without using genetic diagrams, deduce which character is dominant. (5 marks)
b Without using genetic diagrams, deduce the possible genotype of individual 9. (4 marks)

Suggested answers

a i Cross I 1
ii Curly hair is the dominant character. 1 Interpreting a
Individual 5 has straight hair. He must have at least one allele for pedigree showing
the inheritance
straight hair that is inherited from his parents, either individual 1
of an autosomal
or 2. 1 characteristic
Both individuals 1 and 2 have curly hair. They must have at least Refer to p. 29.
one allele for curly hair. 1
Hence, at least one of individuals 1 and 2 is heterozygous 1
Online tutorial 25.1
with the dominant allele being expressed. 1
As both individuals 1 and 2 have curly hair, the allele for curly hair
must be dominant.
b Individual 7 has straight hair. She must be homozygous recessive. 1
She must have passed an allele for straight hair on to individual 9. 1 Making deductions
Individual 9 has curly hair. He must have at least one allele for Each deduction
curly hair. 1 should come with a
supporting phenotype
Hence, individual 9 is heterozygous. 1 from the pedigree.

25– 28
 25 Basic genetics

Learning through examples Skill builder Skill practice

Interpreting a pedigree showing the inheritance of an autosomal characteristic

1 Determine which character is dominant Cross I

To determine which character is dominant, you can look for a cross in which
the two parents show the same character but at least one of the offspring 1 2
shows the other character.
In such crosses, the character shown by the parents is dominant. This
is because if the character is recessive (i.e. the parents are homozygous
recessive), all of their offspring must also show the recessive character.
4 5 6
2 Determine the genotype of an individual
Let H represent the allele for curly hair, and h represent the allele for
straight hair. You can follow the steps below to determine the genotype of
individual 9.
a Deduce genotypes of individuals from their phenotypes
• All individuals showing the recessive character must be homozygous Cross III
recessive.
hh
• All individuals showing the dominant character must have at least one
6 7
dominant allele.
b Deduce genotypes of individuals from the genotypes of their parents or Hh

offspring 9

• Individual 7 is homozygous recessive. All of her gametes contain a

recessive allele. She must have passed a recessive allele on to individual 9.
Therefore, the genotype of individual 9 is Hh.

Learning through examples Skill builder Skill practice

The pedigree on the right shows the inheritance of a

disease in a family. The disease is controlled by a pair 1 2
of alleles on autosomes.
a Deduce whether the allele causing this disease is
dominant or recessive. (5 marks) 3 4 5 6 7

b Deduce the genotype of individual 6. (4 marks)

(Marks will not be awarded for genetic diagrams.)
8 9 10

Key: male with

normal male the disease

female with
Q10 (p. 52) normal female
the disease

25– 29
 IV Genetics and Evolution

Learning through examples Skill builder Skill practice

Red-green colour blindness is an X-linked recessive genetic disorder. The pedigree below shows the
inheritance of the disease in a family.
Key:

male with normal colour vision

1 2
red-green colour-blind male

red-green colour-blind female

3 4
female with unknown phenotype

a Deduce the genotype of individual 4. (Marks will not be awarded for genetic diagrams.) (5 marks)
b Below is a pedigree showing the inheritance of another disease. Assuming the disease is caused
by a recessive allele, explain why it is not X-linked. (5 marks)
Key:

normal male
5 6
normal female

male with the disease

7

female with the disease

Suggested answers

a Individual 1 is a male. He has only one X chromosome. 1

Being normal, he must have an allele for normal colour vision on his Interpreting
X chromosome. 1 a pedigree showing
the inheritance
Individual 2 is red-green colour-blind. She must have an allele for the
of a sex-linked
disease on both of her X chromosomes. 1 characteristic
Individual 4 is a female. She must have received an X chromosome from Refer to p. 31.
each parent. 1
Hence, individual 4 must be heterozygous. 1
Online tutorial 25.2
b As individual 6 has the disease, she must have an allele for the disease
on both of her X chromosomes if the disease is X-linked. 1
These X chromosomes must be passed on to her offspring. Thus all of
her offspring must have at least one allele for the disease. 1
Individual 7 is a male. He has only one X chromosome. 1
If the disease is X-linked, the allele for the disease must express. 1
However, from the pedigree, individual 7 is normal. Thus, the disease is
not X-linked. 1

25– 30
 25 Basic genetics

Learning through examples Skill builder Skill practice

Interpreting a pedigree showing the inheritance of a sex-linked characteristic

Let B represent the allele for normal colour vision and b represent the allele for red-green colour
blindness. You can follow the steps below to determine the genotype of individual 4.
a Deduce genotypes of individuals from their phenotypes
XBY XbXb
• As males have only one X chromosome, the allele on the X 1 2
chromosome must be expressed. A male showing the dominant
character must have a dominant allele on his X chromosome, and a
male showing the recessive character must have a recessive allele on
XbY XBXb
his X chromosome.
3 4
• A female showing the recessive character must have a recessive allele
on both of her X chromosomes.
• A female showing the dominant character must have a dominant allele on at least one of her
X chromosomes.
b Deduce genotypes of individuals from the genotypes of their parents or offspring
• One of the X chromosomes of individual 4 must come from individual 1, and another must come
from individual 2. She must have received an allele from each of them.
Therefore, the genotype of individual 4 is XBXb.

Learning through examples Skill builder Skill practice

The pedigree on the right shows the inheritance

of a disease in a family. The disease is caused by a
1 2
recessive allele on the X chromosome.
Deduce the genotypes of the following individuals.
(Marks will not be awarded for genetic diagrams.)
3 4 5
a Individual 2 (5 marks)
b Individual 6 (5 marks) 6

Key: male with the

normal male
disease

Q11 (p. 52) female with the

normal female
disease

25– 31
 IV Genetics and Evolution

Level 1

Directions: Questions 1 to 3 refer to the pedigree below, which shows

the inheritance of a disease in a family. The disease is controlled by
a gene on autosomes.
Cross P

Cross Q Cross R

2 3 4

5 6
Key:

normal male

normal female

male with the disease

female with the disease

1 Which of the crosses can be used to deduce whether the allele for
the disease is dominant or recessive?
A Cross P only
B Cross Q only
C Cross R only
D Crosses P and Q only p. 29

2 Which of the following individuals must be heterozygous?

A Individuals 1 and 4
B Individuals 2 and 6
C Individuals 4 and 5
D Individuals 4 and 6 p. 29

3 What is the probability of the next child of individuals 2 and 3

having the disease?
A 0%
B 25%
C 50%
cont.

D 75% p. 10, 29

25– 32
 25 Basic genetics

Level 2

4 The pedigree below shows the inheritance of red-green colour

blindness in a family.

Key:

male with normal colour vision

1 2

female with normal colour vision

red-green colour-blind male

3 4 5

Let B represent the allele for normal colour vision and b represent
the allele for red-green colour blindness. Which of the following
are the possible genotypes of individuals 2 and 4?
Individual 2 Individual 4
A XBXB and XBXb XBXB and XBXb
B XBXB and XBXb X BX B
C X BX b XBXB and XBXb
D X BX b X BX b p. 31

5 The pedigree below shows the inheritance of a disease in a family.

The disease is caused by a recessive allele on the X chromosome.

Key:

normal female
1 2

male with the disease

male with unknown phenotype

3 4

Which of the following can be concluded from the pedigree?

A Individual 1 has two alleles for the disease.
B Individual 2 is heterozygous.
C Individual 3 is a carrier of the disease.
D Individual 4 is normal. p. 31

6 A female is red-green colour-blind. Which of the following about her

parents must be correct?
A None of her parents is red-green colour-blind.
B Her father is red-green colour-blind.
C Her mother is a carrier of red-green colour blindness.
D Both of her parents are red-green colour-blind. p. 31

25– 33
Supplementary notes

26.3 Variations in organisms

n Individuals of the same species are similar, but they are never completely the same.
n The differences among individuals of the same species are called variations.

A Two Types of variations

Continuous variation Discontinuous variation

Number of A continuous range of intermediate A few distinct phenotypes with no

phenotypes phenotypes between two extremes intermediates

Cause Genetic and environmental factors Mainly genetic factors

Genetic Usually controlled by many genes Usually controlled by one or a few

control gene(s)

Representative Histogram, from which a normal Discrete Bar chart

graph distribution curve (bell shaped) can be
obtained
1200
‡A pedigree showing the inheritance of
1000 normal
number of people

distribution
number of people

800
curve
600
400
200

140 150 160 170 180 190 AB A B O

height (cm) blood group

Examples in Height, weight, skin colour, hand span, Shape of hairline, free earlobes or
humans foot length, heart rate, blood pressure attached earlobes, ability to roll the
and intelligence quotient (IQ) tongue, straight thumb or hitchhiker’s
thumb, having or not having dimples
and ABO blood groups

19
Supplementary notes

B Causes of variations
n Variations in organisms are caused by genetic and/or environmental factors.

1 Genetic factors
n The genetic differences between individuals are called genetic variation, which are caused by
the following four processes:
i) Independent assortment of chromosomes at meiosis
à Gametes with different combinations of alleles are produced
ii) Crossing over at meiosis
à Exchange of segments between non-sister chromatids of homologous chromosomes
à New genetic combinations in the gametes
iii) Random fertilization of gametes
à The gametes, each having a different genetic make-up, produces different
combinations of alleles in the zygote
à Individuals with different combinations of characters are produced
iv) Mutation
à Sudden and permanent change in the DNA of an organism. (not the main cause to
the variation between individuals)
à Only mutations that occur in gametes or gamete-producing cells can be passed on to
the next generation. (and mainly discontinuous variation)
n Of the four processes, only mutations may produce new alleles. They are the ultimate source
of genetic variation in a population. The other three processes only lead to different
combination of the existing alleles.

Extended learning – Inherited disease of pure-bred dogs

- Most people prefer keeping pure-bred dogs. To retain features in pure-bred dogs through many
generations, pure-bred dogs are often bred with closely related dogs. However, the puppies
produced have a higher risk of getting inherited diseases.
- Alleles for most inherited disease are recessive. They will be masked by the dominant alleles in
heterozygous conditions. Diseases alleles are usually rare in the population.
- Therefore, the chance of the puppies getting two recessive alleles is low if two unrelated dogs
are mated.
- However, the genetic variations among closely related dogs are less. It is more likely that both
of the dogs involved in the breeding have a disease allele. Therefore, the risk of their puppies
getting the disease is higher. (eg. pure-bred corgi suffering an inherited hip join problem)

20
Supplementary notes

2 Environmental factors
n All organisms are affected by the environment in which they live. For example…
n The colour of garlic chives: affected by the presence of light.
à When they grow in darkness, they become yellow, and are known as yellow chives.
n Skin colour: affected by exposure to sunlight
à More melanin is produced and deepen the skin colour
n Fur colour of the Siamese cat: affected by body temperature.
à Enzymes in the cells catalyses of a pigment which causes darkening of the fur.
à At the extremities where the temperature is lowerà darkened fur
n Flower colour of hydrangeas: affected by pH of the soil
à blue flower (acidic soil), pink flower (alkaline soil)

n In studies of the environmental factors (mainly investigating the continuous variation)

affecting a certain characteristic in humans, scientists often use identical twins as subjects.
à Same genetic make-up (discontinuous variation is no difference)
à The differences in their phenotypes should be due to environmental factors

Exercise
1. If 20% of a sample of DNA is adenine, what percentage of the DNA is guanine?
A. 20%
B. 30%
C. 40%
D. It cannot be determined from the information given.

2. In fruit flies, wings can be long or vestigial. A female fruit fly with vestigial wings was crossed
with a male with long wings. All the F1 offspring produced had long wings. Two of the F1
offspring were crossed with each other. What would be the probability of the F2 offspring
having vestigial wings?
A. 25%
B. 50%
C. 75%
D. 100%

21
Supplementary notes

3. In mice, fur colour is controlled by a pair of alleles. The allele for black fur is dominant to the
allele for brown fur. Which of the following confirms that a mouse with black fur is a
heterozygote?
Cross Phenotype of the F1 offspring
A. Cross it a mouse with All have black fur
black fur
B. Cross it a mouse with The ratio of black-fur offspring to brown-fur offspring
black fur is around 3:1
C. Cross it a mouse with All have black fur
brown fur
D. Cross it a mouse with The ratio of black-fur offspring to brown-fur offspring
brown fur is around 1:1

4. In guinea pigs, fur length and fur colour are controlled by two different genes. A pure-breed
guinea pig with long brown fur was crossed with a pure-breed guinea pig with short black fur.
They gave birth to four offspring which had short brown fur.
Which of the following conclusions can be drawn based on the above case?
(1) Short fur is dominant over long fur.
(2) The four offspring have the same genotype for fur length and fur colour.
(3) The genes controlling fur length and fur colour are located on different chromosomes.
A. (1) and (2) only
B. (1) and (3) only
C. (2) and (3) only
D. (1), (2) and (3)

5. A man has blood group A and his wife has blood group AB. What are the possible blood
groups of their children?
A. AB only
B. A and B only
C. A and AB only
D. A, B and AB only

6. Cystic fibrosis is an inherited disease caused by a recessive allele. A child is born with cystic
fibrosis despite neither parent having the disease. The parents are going to have a second child.
What is the chance that the second child will have cystic fibrosis?
A. 100%
B. 75%
C. 50%
D. 25%

22
Supplementary notes

7. The pedigree below shows the inheritance of a trait in a family.

I
Key:

£ normal male
II ™ normal female
affected male
¢ affected female
˜
III

What is the type of inheritance of this trait?

A. autosomal dominant
B. X-linked dominant
C. X-linked recessive
D. Y-linked dominant

8. Which of the following combinations is correct?

Sex chromosome in the Sex chromosome in the Sex of the baby
mother’s ovum father’s sperm
A. X X male
B. X Y male
C. Y X female
D. X Y female

9. How is red-green colour blindness inherited?

A. Males inherit the condition from their fathers only.
B. Males can inherit the condition from their mothers having normal colour vision.
C. Females inherit the condition from their fathers only.
D. Females inherit the condition from their mothers only.

10. A certain characteristic of a group of students were measured and the data are presented in the
graph below.
Number of students

Variation of a characteristic

23
 Supplementary notes

Which of the following is most probably the characteristic being studied?

A. hand span
B. intelligence quotient
C. sex
D. blood group

Short questions
« 11. The feather colour of a certain breed of chicken is inherited in a very similar way to blood
groups in humans. The gene for feather colour has two codominant alleles:
CB which is the allele for black feather
CW which is the allele for white feather
The table below shows the genotypes and phenotypes of different feather colours seen in a
herd of chickens.

Genotype Phenotype
CB CB black
CW CW white
CB CW speckled
(a) Explain the term ‘codominance’. (2 marks)

(b) Use a genetic diagram to show the result of a cross between two speckled chickens.
(4 marks)

(Total: 6 marks)

24
Supplementary notes

12. The table shows some of the characteristics of four members in a family.
Mr. Wong Mrs. Wong Ken Betty
Blood group B O B O
Height 178 165 168 160
Shape of Free Free Attached Free
earlobes earlobes earlobes earlobes earlobes
(a) Deduce, with reasons, the blood group genotype of Mr. Wong.
(Marks will not be awarded to genetic diagrams.) (4 marks)

(b) In humans, the shape of earlobes is determined by a pair of alleles. Based in the given
information, deduce whether the allele for free earlobes is dominant or recessive.
(Marks will not be awarded to genetic diagrams.) (5 marks)

(c) Explain why Ken and Betty are of different sexes despite the fact that they are a pair of
twins. (2 marks)

(Total: 11 marks)

25
 Supplementary notes

13. The pedigree below shows the inheritance of a disease in a family. The disease is caused by a
dominant allele (A).

Key:

1 2
normal male

normal female

affected male
3 4 5 6 7

affected female

(a) Using information in the pedigree, explain why the inheritance of the disease is not
sex-linked. (3 marks)

(b)Individuals 6 and 7 are going to have a second child. What will be the chance of this child having
the disease? Explain your answer by means of a genetic diagram. (4 marks)

(Total: 7 marks)

26
Supplementary notes

ANS
1. B 2. A 3. D 4. A 5. D
6. D 7. A 8. B 9. B 10. D
(1 mark each)

11. (a) It means that both alleles are expressed (1)

in a heterozygote. (1)
(b)
Parents speckled chicken speckled chicken
Í
CB CW CB CW

Gametes CB CW CB CW (1)

F1 genotypes CB CB CB CW CB CW CW CW (1)

F1 phenotypes black speckled speckled white (1)

chicken chicken chicken chicken

Phenotypic ratio 1 black : 2 speckled : 1 white (1)

(Total: 6 marks)

12. (a) IBi (1)

B
Mr. Wong has blood group B, and so he must have at least one I allele. (1)
Betty has blood group O, and so her genotype must be ii. (1)
Betty must have received one i allele from each of her parents. (1)
Therefore, Mr. Wong must have an i allele.
(b) Mr. and Mrs. Wong have free earlobes, and so each of them must carry at least one allele
for free earlobes. (1)
Ken has attached earlobes, and so he must have received at least one allele for attached
earlobes from his parents. (1)
At least one of the parents is heterozygous. (1)
In a heterozygous condition, only the dominant allele is expressed. (1)
Therefore, the allele for free earlobes is dominant. (1)
(c) The twins are formed from the fusion of two ova with two sperms. (1)
The two sperms carry different sex chromosomes. (1)
(Total: 11 marks)

13. (a) The disease is not Y-linked because individual 6 does not have a Y chromosome but still
has inherited the disease. (1)
If the disease is X-linked, individual 3 must have inherited the Y chromosome from
individual 1 and the X chromosome bearing the normal allele from individual 2 that he
would not be affected by the disease. (1)
However, he has the disease and so the disease is not X-linked. (1)

27
Supplementary notes

(b)
Parents individual 6 individual 7
Í
Aa aa (1)

Gametes A a a (1)

F1 genotypes Aa aa (1)

F1 phenotypes affected normal

child child
The chance of the second child having the disease is 1/2 (50%). (1)
(Total: 7 marks)

28