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2. DNA is Cut
The DNA is cut up into fragments using
restriction enzymes.
◦ These enzymes recognise specific sections of DNA
bases and cut the DNA at these points.
◦ This gives lots of fragments of different lengths.
3. Fragments Separated
The fragments are separated by length using
electrophoresis.
◦ The samples are placed into a gel.
◦ Electricity is passed through it, this carries the DNA
through the gel as DNA is negatively charged.
◦ The smaller fragments move faster.
Gametes B x b
fertilisation
F1
Bb
Genotypes
F1
All black
Phenotypes
A Punnett square is used to show the possible
combinations of gametes of the progeny in a
genetic cross.
= Possible Gametes
Parent Two
= Possible Genotypes
of offspring
Parent One
Question Two
In pea plants, green pods (G) are dominant to
yellow pods (g). Show the genotypes and
phenotypes of the F1 progeny that results
from crossing two heterozygous plants.
Answer Two
Parental
Green x Green
Phenotypes
Parental Gg Gg
x
Genotypes
G g
G GG Gg
Gametes
g Gg gg
F1
Genotypes GG Gg Gg gg
F1
3 green pods : 1 yellow pod
Phenotypes
Question Three
In flies, long wing is dominant to short wing.
If a homozygous dominant fly is crossed with
a homozygous recessive fly:
a) What letter should represent long wing?
b) Give the genotype of the homozygous dominant
parent.
c) State the phenotype of the homozygous dominant
parent.
d) Give the genotypes of all the gametes produced.
e) If 100 flies are produced, how many would you
expect to be:
i. Long winged.
ii. Homozygous dominant.
Answer Three
Parental
Long wing x Short wing
Phenotypes
Parental
LL x ll
Genotypes
Gametes L x l
F1
Ll
Genotypes
F1
All long wing
Phenotypes
a) Long wing = L.
b) Genotype of homozygous dominant parent
= LL.
c) Phenotype of homozygous dominant parent
= long wings.
d) Gamete genotypes = L and l.
e) If 100 flies are produced:
i. Expect 100 long wing.
ii.Expect none of the flies to be homozygous
dominant.
Question Four
In flies, straight wing (S) is dominant over
curved wing (s). A homozygous dominant fly
is crossed with a curved wing fly. Show the
possible genotypes and phenotypes for the F1
generation of this cross.
Answer Four
Parental Straight Curved
x
Phenotypes wing wing
Parental
SS x ss
Genotypes
Gametes S x s
F1
Ss
Genotypes
F1
All straight wing
Phenotypes
Question Five
In the fruit fly, Drosophila, body colour is
controlled by two alleles. The allele for grey
body (G) is dominant to the allele for black
body (g). If two heterozygous flies are
crossed, show by diagrams that the ratio of
flies with grey bodies to flies with black
bodies is 3:1.
Answer Five
Parental
Grey body x Grey body
Phenotypes
Parental Gg Gg
x
Genotypes
G g
G GG Gg
Gametes
g Gg gg
F1
Genotypes GG Gg Gg gg
F1
3 grey bodies : 1 black body
Phenotypes
Incomplete dominance means that neither
allele is dominant over the other and both are
expressed in the heterozygous condition.
Gametes r x R
F1
Rr
Genotypes
F1
All pink flowers
Phenotypes
Answer Six (b)
Parental
Pink flower x Pink flower
Phenotypes
Parental Rr Rr
x
Genotypes
R r
R RR Rr
Gametes
r Rr rr
F1
Genotypes RR Rr Rr rr
F1
1 red : 2 pink : 1 white
Phenotypes
The nucleus of each human body cell has 46
chromosomes (23 pairs). These consist of:
◦ 44 non-sex chromosomes called autosomes.
◦ 2 sex chromosomes.
X Y
Gametes X XX XY
F1
Genotypes XX XY
F1
1 female : 1 male
Phenotypes
Gregor Mendel is known as the father of
genetics.
Gametes TG x tg
F1
TtGg
Genotypes
F1
Tall plants with green pods
Phenotypes
Question Eight
In guinea pigs, black coat (B) is dominant to
white coat (b). Also short hair (S) is dominant
to long hair (s).
a) Show the genotypes and phenotypes of the F1
progeny for a cross involving a black-coated,
short-haired guinea pig, heterozygous for both
traits, and a white coated, long-haired animal.
b) State the expected ratio of the offspring.
Answer Eight (a)
Parental BbSs bbss
x
Genotypes
bs
BS BbSs
Gametes
Bs Bbss
bS bbSs
bs bbss
F1
BbSs Bbss bbSs bbss
Genotypes
Black coat, short hair
F1 Black coat, long hair
Phenotypes White coat, short hair
White coat, long hair
Answer Eight (b)
The offspring are expected to occur in the
ratio 1:1:1:1
Question Nine
A homozygous purple-flowered, short
stemmed plant was crossed with a red-
flowered, long-stemmed plant.
All the F1 offspring were purple-flowered
with short stems.
a) State the dominant and recessive traits.
b) Explain, using diagrams, why the F1 plants all had
the same phenotypes.
c) Give the expected phenotype ratios if an F1 plant
is selfed.
Answer Nine (a)
Purple-flowered and short stemmed are the
dominant traits.
Red-flowered and long-stemmed are the
recessive traits.
Answer Nine (b)
Parental Purple flower Red flower
x
Phenotypes Short stem Long stem
Parental
PPSS x ppss
Genotypes
Gametes PS x ps
F1
PpSs
Genotypes
F1
All purple-flowered, short-stemmed
Phenotypes
Answer Nine (c)
Parental PpSs PpSs
x
Genotypes
PS Ps pS ps
Purple-flowered, short-stemmed = 9
F2 Purple-flowered, long stemmed = 3
Phenotypes Red-flowered, short-stemmed = 3
Red-flowered, long-stemmed = 1
F2 Phenotype
9:3:3:1
Ratio
Linkage means that genes are located on the
same chromosome.
◦ Linked genes are passed on together to the next
generation.
AB AaBb
Gametes
Ab Aabb
aB aaBb
ab aabb
F1 Ratio 1:1:1:1
Answer Eleven (b)
Parental
x
Genotypes
Gametes
F1 Ratio 1:1
The ratios of the genotypes of the gametes
produced by linked crosses are different from
those produced by non-linked crosses.
Genotypes:
XNXN XNX n XnXn
Male Colour-blindness
Colour-blindness is more common in males
as they only need to have one copy of the
recessive allele.
Genotypes:
XNY- XnY-
Haemophilia
Haemophilia is a bleeding disorder caused by
a lack of a blood clotting protein.
◦ Without treatment, some haemophiliacs may bleed
to death after a small cut.
Parental X N Xn X NY-
x
Genotypes
XN Y-
XN X N XN X NY-
Gametes
Xn X N Xn X n Y-
Sexual Reproduction
Gamete formation ensures genetic variation
as chromosomes are assorted independently
of each other during meiosis.
The random fertilisation between gametes
from different parents also ensures variation.
Mutation
A mutation is a change in the amount or
structure of DNA.
Causes of Mutations
Spontaneous mutations arise naturally when
DNA does not produce exact copies of itself
or when it fails to repair properly.
Mutagens are agents that cause mutations.
◦ Ionising radiation such as X-rays, UV rays and
gamma rays.
◦ Chemicals such as formaldehyde, tobacco smoke
and many drugs.
Types of Mutations
Gene mutations are changes in a single gene.
◦ This is often caused by a change in a single base
pair resulting in an allele.
Sickle cell anaemia is an inherited blood
disorder caused by a mutation in the
haemoglobin gene.
◦ The mutated gene is recessive and a person with
two copies of it produces an insoluble form of
haemoglobin causing their red blood cells to
become curved.
This causes the breakdown of red blood cells leading
to paleness, weakness, heart failure, damage to organs
and often death.
Types of Mutations
Chromosome mutations are large changes in
the structure or number of one or more
chromosomes.
Down’s Syndrome is a chromosome mutation
caused by the presence of one extra
chromosome.
◦ This often arises from a fault in meiosis where the
egg has two number 21 chromosomes, the sperm
then adds a third one during fertilisation.
This produces a range of physical and mental features
associated with Down’s Syndrome.
Evolution is the way in which living things
change genetically to produce new forms of
life over long periods of time.
Observations
Organisms produce large numbers of
offspring e.g. plants produce thousand of
seeds.
Population numbers in an area remain
constant.
Members of a population show genetic or
inherited differences.
Conclusions
There is a struggle for existence if large
numbers of offspring are formed and the
environment cannot support them all.
Those organisms that have variations which
enable them to adapt better to their
environment will survive and reproduce
passing on their variations to the next
generation.
◦ This is known as natural selection.
Some evidence for evolution includes:
◦ The study of fossils
◦ Comparative anatomy
◦ Comparative embryology