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GCSE

Biology
Week 9

Inheritance...

This week: Inheritance


B1 1.21 Genes exist in alternative forms
B1 1.22 Key terms
B1 1.23 Monohybrid Genetic Diagram /
Punnett squares and family pedigrees
B1 1.24 Calculate and analyse outcomes from
monohybrid crosses
B1 1.25 Symptoms of sickle cell disease and
cystic fibrosis
B1 1.26 Pedigree analysis screening for genetic
disorders
B3 1.17 The sex of a person is controlled by
one pair of chromosomes
B3 1.18 How the sex of offspring is determined
at fertilization (genetic diagram)
B3 1.19 How sex-linked genetic disorders are
inherited

Remember GCSE Biology Week 4: Cell Division?

How do cells
divide to
become
anything at
all?
Through a process
called Mitosis!

DIPLOID
Somatic cells are described as ................
(from the Greek meaning double).
you will see this written as 2n

Some cells in the human body are not diploid... Gametes contain only 1
copy of each gene as they have only 1 set of chromosomes.

Haploid
These cells are ..............
and are produced by a
Meiosis
special type of cell division called ............

A male and Female gamete join


together at fertilisation...
forming a.

zygote
This 1 cell
then divides
by

Mitosis
to produce
a complete
new
organism...

You received
one chromatid
from your
father.
And one from
chromatid your
mother!

Remember that in all living things,


characteristics are passed on in the
chromosomes that offspring inherit from
their parents.

GENE for
Eye colour

GENE for
Eye colour

Each chromosome
may have a
different version of
a gene.

GENE /
Allele for
Blue Eye
colour

GENE /
Allele for
Brown Eye
colour

Different versions of a
gene, that code for
different versions of a
characteristic, are called
ALLELES.

In genetics, different alleles


are often represented by
letters, such as Aa.
The capital letter stands for
the DOMINANT allele A;
whereas a would be the
recessive allele.
Homozygous individuals are true breeding. This means that they will
always produce the same phenotype of offspring because they are not
hiding a recessive allele.

Monohybrid inheritance: how single


genes are passed on... Medal and his
peas

Monohybrid (single - gene) inheritance concerns the inheritance of different


alleles (usually 2) of a single gene. (e.g. the gene for height)

...Like Mendel, well start with the pea plants, which have easily
observable features that are controlled by a single gene.

e.g. Pea plants have one gene for height.


The height gene has 2 alleles:

T (TALL)
t (dwarf)

Pea plants are diploid and so have 2 alleles (for


height). Therefore there are 3 possible genotypes

TT = homozygous dominant
(homo = same)
(so homozygous for T)

Tt = Heterozygous

(hetero = different)

tt = homozygous recessive
(homo = same)
(so homozygous for t)

Consider what happens when a


homozygous Tall plant (T) is crossed
with a homozygous dwarf (t) plant.

Homozygous Tall Plant (TT)

T
t
Homozygous
Dwarf Plant (tt)

All gametes from the Tall plant contain a T allele, and all those from a
dwarf plant contain a t allele. These combine at fertilisation to give
offspring all with the genotype Tt (the genes / alleles that determine an
organisms phenotype)
However, although they look
identical in respect to their
Tall parent plant, they are
very different in one very
important respect: they are
Heterozygous and NOT
homozygous.

If 2 of these heterozygous plants are


crossed, half of the gametes from each
parent are T and half are t, giving us 4
possible genotypes in the second generation
(F2)
Heterozygous(Tall) Plant (Tt)

t
Heterozygous
(Tall) Plant (Tt)

The 1st 3 give Tall plants,


the 4th gives a dwarf, so 75
% Tall, 25% dwarf.

25% = TT
50% =Tt
25% = tt
Heterozygous(Tall) Plant (Tt)

t
Heterozygous
(Tall) Plant (Tt)

B1 1.22 Key terms:


You have to be able to define the following
terms

Homozygous Recessive

Monohybrid
inheritance in
humans:

Clear-cut examples of monohybrid


inheritance in humans are relatively rare,
and often involve genetic disease where
people inherit 1 or more faulty alleles.

Genetic diseases are often recessive;


this is because faulty alleles that fail to
make an important protein can be
masked by normal ones that function
properly.
i.e. Recessive alleles are masked by
Dominant Alleles.

In contrast some
genetic disease, e.g.
Huntington's
disease, are caused
by DOMINANT
ALLELES.

The alleles concerned code for a product that


actively causes damage; symptoms are not
due to an allele not doing its job. Such alleles
are dominant because the presence of a
normal allele cannot mask the symptoms.

Some examples of monohybrid inheritance in humans:


Traits

Features
Dominant traits

Huntington's disease

Symptoms in 30s and 40s, degenerative .

Freckles

Freckles

Dimple in chin

Dimple in chin
Recessive traits

Sickle cell anaemia


(B1 1.25 Symptoms of sickle cell disease and
cystic fibrosis)

Haemoglobin polymerises, distorting red


blood cells into sickle shape blockage of
circulatory system and anaemia.

Albinism

Inability to make pigment melanin.

Lactose intolerance

Inability to breakdown the disaccharide lactose


into glucose and galactose. Leads to vomiting,
diarrhoea, flatulence.

Cystic fibrosis
(B1 1.25 Symptoms of sickle cell disease and
cystic fibrosis)

Excessive mucous production, especially in


the lungs and pancreas. Breathing and
digestion are also affected and suffers are
very susceptible to lung infections.

(B1 1.26 Pedigree


analysis screening for
genetic disorders)

e.g. Huntington's disease:


a rare inherited disorder of
the nervous system.
Caused by a dominant
allele H. The recessive
allele of this gene is
represented by h.

The diagram shows the inheritance of Huntingtons disease in a family.

Key

Hh

Affected male

hh

Unaffected male

Hh

Affected female

hh

Unaffected female

Use a genetic diagram to show the


inheritance of the Huntington's Disease
allele by the children of parents P and Q.

B1 1.24 Calculate and


analyse outcomes from
monohybrid crosses

Father:

Mother:

Hh

hh

Genotype:
meiosis

Alleles: (in egg and sperm)

Poss. Combinations of Alleles


Phenotype:

h hH
hH
h
suffer
suffer
50% Chance

hh
h

hh
h

normal

normal

Q) Explain why none of the children of R and S inherited Huntingtons


disease .
P

Key

hh S

R hh

hh

hh

hh

Hh

Affected male

hh

Unaffected male

Hh

Affected female

hh

Unaffected female

A) Both parents are unaffected , Thus they don't have the


disease.

The Genotype of parents is... hh homozygous recessive (or neither


parent has H dominant gene/allele).

B1 1.24 Calculate and


analyse outcomes from
monohybrid crosses

What if both parents are heterozygous?


Organise your results into a Punnet square:
Heterozygous Father (Hh)

Heterozygous
Mother (Hh)

25% = HH
50% = Hh
25% = hh
3:1

B1 1.23 Monohybrid Genetic Diagram Punnett squares and family pedigrees

Cystic fibrosis is a recessive disorder, so cross 2 carriers


with genotypes Ff

Father:

Genotype:

Mother:

Ff

Ff

meiosis

Alleles: (in egg and sperm)

Poss. Combinations of
Alleles

F
FF

fFf

F
Ff

fff

normal

carrier

carrier

suffer

Phenotype:

Organise your results into a Punnet square:


Heterozygous Father (Ff)

Heterozygous
Mother (Ff)

ff

FF

25% = FF
50% = Ff
25% = ff
3:1

Meiosis: The production of Gametes (sex cells)

Remember sperm and egg


(ova) are Hapliod having
just n half the number of
chromosomes.

Meiosis is a special kind of


cell division in which there
are 2 successive divisions
that result in the
production of gametes
the sex cells!

Meiosis: The production of


Gametes (sex cells)

B3 1.17
The sex of a person is
controlled by one pair of
chromosomes.

B3 1.18
How the sex of offspring is
determined at fertilization
(genetic diagram)

B3 1.17
The sex of a person is controlled by
one pair of chromosomes.
B3 1.18
How the sex of
offspring is determined
at fertilization (genetic
diagram)

Father:
Genotype:

Mother:

XX

XY
meiosis

Gametes

Poss. Combinations
Phenotype: i.e. Sex

XX
X

Y
XY

X
XX

XY
Y

Female

Male

Female

Male

Organise your results into a Punnet square:

Male = XY

X
X
Female =
XX

XX

50% = XX
50% = XY
1:1

Sex linked Genetic


disorders

B3 1.19 How sex-linked genetic


disorders are inherited

Sex linked Genetic


disorders
Some genetic characteristics
are sex linked meaning they
are carried on one of the Sex
Chromomsomes. (X or Y)
Colour Blindness is
inherited, and is caused
by a faulty allele on the X
chromosome

Since the Y
chromosome is smaller
than the X chromosome
it carries fewer sexlinked genetic
disorders

So, colour
blindness, for
example is much
more common in
men than in women
because men only
require 1
(recessive) faulty
allele whereas
women need 2.

n
n
XX

This genotype is
rare

This genotype is
more common

n
XY

N = Allele for Normal


colour vision
n = Allele for colour
blindness (Faulty
allele)

Parents Phenotype

Normal
Male:

Normal Female
(carrier)

Parents Genotype:

N
X Y

XN Xn

Genotype of Gametes

Poss. Combinations
Offspring's Phenotype: i.e. colour
blind / normal or carrier

meiosis

XN

Xn

XNXXNN

XN Y
Y

XXNNXn

XYnY

Normal
Female

Normal
Male

Normal
Female
Carrier

N
X

Colour
Blind
Male

Organise your results into a Punnet square:

Male = XNY

XN
XXN N
Female =
XNXn

XXnn

The ratio is 3:1


(normal : Colour blind)
but can also be
represented as 2:1:1
(Normal : Carrier :
Colour Blind)

2:1:1
3:1

Sex linked Genetic


disorders
Haemophilia (a disease where
blood doesn't clot properly) is
a genetic disease that is
inherited in exactly the same
way as colour blindness.
Haemophilia is inherited,
and is caused by a faulty
allele on the X
chromosome

Homozygous:
Pair of alleles that produce a characteristic are the same, e.g.
Homozygous dominant = HH
Homozygous Recessive = hh
Heterozygous:
Pair of alleles that produce a characteristic; the alleles are different, e.g. Hh.
Dominant:
An allele that will always be expressed even when there is only one of these alleles present, represented by a capital letter. e.g.
HH or Hh. the H (dominate allele will be expressed)
Recessive:
An allele that will only be expressed when both alleles are of this type e.g. hh.
Gene:
Section of DNA that codes for a particular trait or characteristic.
Allele:
A different form of a gene that codes for a different version of a characteristic.
Genotype:
A description of the pair of alleles present for a characteristic.
Phenotype:
The physical expression of the alleles.