Heredity

Recap 2

Genes control the characteristics of living

organisms
Genes are carried on the chromosomes

Chromosomes are in pairs, one from each parent

Genes are in pairs

Genes controlling the same characteristics occupy

identical positions on corresponding chromosomes
Dominance 3

The gene pairs control one characteristic

But they do not always control it in the same way

Of the gene pair which help determine coat colour

in mice, one might try to produce black fur and its
partner might try to produce brown fur

The gene for black fur is dominant to the gene

for brown fur
Symbols
4

The genes are represented by letters

The gene for black fur is given the letter B
The gene for brown fur is given the letter b

BB bb

The genes must have the same letter but the

dominant gene is always in capitals
 5
Alleles

The genes of a corresponding pair are called

alleles
This means alternative forms of the same gene

B and b are alleles of the gene for coat colour

B is the dominant allele

b is the recessive allele

 6
F1

A black male mouse (BB) is mated (crossed) with a

female brown mouse (bb)
In gamete production by meiosis, the alleles are
separated
Sperms will carry one copy of the B allele

Ova will carry one copy of the b allele

When the sperm fertilizes the ovum, the

alleles B and b come together in the zygote
 All offspring will
be black (Bb)
B
B

B meiosis
fertilization
sperm mother cell
B B

ovum mother cell b b

b zygote
meiosis
b
b
 8

The offspring from this cross are called the F1 (First Filial) generation

They are all black because the allele for black coat colour is
dominant to the allele for brown coat colour

These Bb mice are called heterozygotes. Because the B and b

alleles have different effects; producing either black or brown coat
colour The mice are heterozygous for coat colour

The BB mice are called homozygotes because the two alleles

produce the same effect. Both alleles produce black coats.

The bb mice are also homozygous for coat colour. Both alleles
produce a brown coat colour

The next slide shows what happens when the two heterozygotes
are mated and produce young
F2 9
Fertilization Possible combinations
sperms
B
B
B B
BB

b b B

sperm mother cell b

Bb
meiosis

ovum mother cell b

B

B B
Bb

b
b
b

b
ova bb
zygotes
Punnett square 10

A neater way of working out the possible combinations

is to use a Punnett Square*
Draw a grid
Enter the alleles in the gametes

Enter the possible combinations

B b female gametes

B BB Bb
male
gametes
These are the
b Bb bb F2 generation
3:1 ratio 11

The offspring are in the ratio of 3 black to 1 brown

Although the BB and Bb mice look identical, the Bb mice will not
breed true. When mated together there is a chance that 1 in 4 of their
offspring will be brown

This is only a chance because sperms and ova meet at random

A litter of 5, may contain no brown mice; in a litter of 12, you might
expect 3 brown mice but you would not be surprised at anything
between 2 and 5.

The total offspring from successive matings of the heterozygotes

would be expected to produce in something close to the 3:1 ratio

For example, 6 successive litters might produce 35 black and

13 brown mice. This is a ratio of 2.7:1, near enough to 3:1
 12
Some terminology

The offspring of the heterozgotes are the F2 generation

The genetic constitution of an organism is called its genotype

The visible or physiological characteristics of an organism are

called its phenotype

The phenotype of this mouse is BB

black. Its genotype is BB

The phenotype of this mouse is

Bb
also black, but its genotype is Bb

The phenotype of this mouse is bb

brown. Its genotype is bb
 13
These tobacco seedlings are the F2 generation from a cross
Between heterozygous (Cc) parents. C is the gene for chlorophyll.
cc plants can make no chlorophyll. There are 75 green seedlings present.
What is the ratio of green to white seedlings? What ratio would you expect?
 14

There are 21 white seedlings. This is a ratio of 75:21 or 3.57:1

C c
You would expect
CC Cc the cross to produce
C
72 green to 24 white
seedlings (3:1)
c Cc cc

1 CC 2 Cc and 1 cc,
a ratio of 3 green to 1 white seedling

Is 3.57:1 near enough to 3:1 ?*

Sex chromosomes 15

In most populations of animals there are approximately equal

numbers of males and females

This is the result of a pair of chromosomes; the sex chromosomes

called the X and Y chromosomes

The X and Y chromosomes are a homologous pair but in many

animals the Y chromosome is smaller than the X

Females have two X chromosomes in their cells.

Males have one X and one Y in their cells

At meiosis, the sex chromosomes are separated so the the gametes

receive only one: either an X or a Y.
Sex ratio 16
fertilization
meiosis
X
X female
X
X

Y Y male
Y
sperm mother cell X

X X
X female
X

X Y
X
male
ovum mother cell X
Single gene effects 17

Very few human characteristics are controlled by a single gene

Characteristics such as height or skin colour are controlled by

several genes acting together

Those characteristics which are controlled by a single gene

are usually responsible for inherited defects (see slide 19)
ABO blood groups 18

An exception is the inheritance of the ABO blood group

The IA allele produces group A The IB allele produces group B

The IO allele produces group O IO is recessive to IA and IB

The group A phenotype can result from genotypes IAIA or IAIO

The group B phenotype can result from genotypes IBIB or IBIO

The group O phenotype can result only from genotype IOIO

The AB phenotype results from the genotype IAIB

The alleles IA and IB are equally dominant (co-dominant)

 19
Genetic defects
Cystic fibrosis (recessive) Glands of the alimentary canal produce a
thick mucus which affects breathing, digestion and susceptibility to
chest infection
Achondroplastic dwarfism (dominant)The head and trunk grow
normally but the limbs remain short

Albinism (recessive) Albinos cannot to produce pigment in their

skin, hair or iris

Polydactyly (dominant*) an extra digit may be produced on the

hands or feet
Sickle cell anaemia (recessive)The red blood cells become
distorted if the oxygen concentration falls. They tend to block
small blood vessels in the joints
 20
Genetic counselling (Genetic defects)
If the genotypes of the parents are known, it is possible to
calculate the probability of their having an affected child
(i.e. one with the defect)
For example if a male achondroplastic dwarf marries a normal
woman, what are their chances of having an affected child?

The father’s genotype must be Dd. (DD is not viable)

The mother must be dd since she is not a dwarf

There is a 50% probability of their having D d

an affected child
d Dd dd
What are the probabilities if both parents d Dd dd
are affected?
 21
Cystic fibrosis (recessive)
If two normal parents have an affected child, they must both be
heterozygous (Nn) for the recessive allele n

A nn parent would have cystic fibrosis

N n
A NN parent would produce only normal N NN Nn
children
n Nn nn
Since the parents are now known to be
heterozygous it can be predicted that their
next child has a I in 4 chance of inheriting
the disease

This chance applies to all subsequent children*

 22

Sickle cell anaemia (recessive)

Hb = haemoglobin

HbA is the allele for normal haemoglobin

HbS is the allele for sickle cell haemoglobin

A person with the genotype HbSHbS will suffer from

sickle cell anaemia

A person with the genotype HbAHbA is normal

The genotype HbAHbS produces sickle cell ‘trait’ because HbA

is incompletely dominant to HbS

The heterozygote HbAHbS has few symptoms but is a ‘carrier’

for the disease
Carriers 23

Heterozygous recessive individuals do not usually exhibit

any disease symptoms but because their offspring may inherit
the disease, the heterozygotes are called ‘carriers’

carriers HbA HbS

HbA HbAHbA HbAHbS

HbS HbAHbS HbSHbS

Similarly, individuals with the genotype Nn are carriers for

cystic fibrosis
Family trees 24
It is sometimes possible to work out the genotypes of parents and
to track the inheritance of an allele by studying family trees

= normal female = affected female

= normal male = affected male

Parents have normal phenotypes

but produce

an affected child

For this to happen, both parents must have heterozygous

genotypes (Nn) for the characteristic
 25

AA If one of the parents is homozygous

for a dominant allele, all the children
will be affected

If one parent is heterozygous for a

Aa aa dominant allele and the other is
homozygous recessive, there is
a chance that half their children will
be affected

Aa Aa If both parents are heterozygous for

a recessive allele, there is a chance
that one in four of their children
will be affected
 26
grandparents

marriage marriage

parents

children

cystic fibrosis

What can you deduce about the genotypes of the grandparents from
this family tree?
 27
Cystic fibrosis is caused by a recessive gene
An affected person must therefore have the genotype nn
Since neither of the grandparents is affected, they must be either
NN or Nn genotypes

If they were both NN, none of their children or grandchildren could

be affected

If one was Nn and the other NN, then there is a chance that
50% of their children could be carriers Nn

If one of the carriers marries another carrier, there is a

1 in 4 chance of their having an affected child

The genotypes of the grand parents must be either both Nn or one

NN and the other Nn
 28

D d

D DD Dd

d Dd dd

If both parents have the Dd genotype there is a 75% chance

of their having affected children, but the DD individual is
unlikely to survive
 29

Question 1
Which of the following are heterozygous genotypes?

(a) Aa

(b) bb

(c) nn

(d) Bb
 30

Question 2
Which of these genes are alleles?

A B C
chromosomes

A b c
(a) A and A

(b) A and B

(c) B and C

(d) B and b
 31

Question 3
Which of the following processes separates
homologous chromosomes ?

(a) mitosis

(b) cell division

(c) meiosis

(d) fertilization
 32

Question 4
Which of the following terms correctly describes
the genotype bb ?

(a) homozygous dominant

(b) heterozygous dominant

(c) homozygous recessive

(d) heterozygous recessive

 33

Question 5
What is the likely ratio of affected children born to parents
both of whom are heterozygous for cystic fibrosis ?

(a) 1 affected: 3 normal

(b) 3 affected: 1 normal

(c) 2 affected: 2 normal

(d) all affected
 34

Question 6

Which of the following phenotypes corresponds to the

Genotype IAIO ?

(a) Blood group A

(b) Blood group B

(c) Blood group O

(d) Blood group AB

 35

Question 7
What is the expected ratio of offspring from
a black rabbit Bb and a white rabbit bb ?

(a) 3 black: 1 white

(b) 1 black: 3 white

(c) 50% white; 50% black

(d) all black

 36

Question 8
Which of these Punnett squares correctly represents
a cross between two heterozygous individuals ?

(a) A a (b) A a
A AA aa A AA Aa
a AA aa a Aa aa
(c) a (d) a a
A
A AA Aa A Aa Aa
a Aa Aa a aa aa
 37

Question 9
A married couple has a family of 6 boys.
What are the chances that the next child will be a girl ?

(a) 6:1

(b) 1:6

(c) 3:1

(d) 1:1
 38

Question 10
Which of the following is a ‘carrier’ genotype for a disease
caused by a recessive gene ?

(a) nn

(b) NN

(c) Nn
 39

Question 11
If normal parents have a child with cystic fibrosis

(a) one of them must be heterozygous

(b) both of them must be heterozygous

(c) one of them must be homozygous

(d) both of them must be homozygous

 40

Answer

Correct
 41

Answer

Incorrect