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.