CAIE Biology A-level
Topic 16: Inherited change
Notes
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Meiosis is a form of cell division that gives rise to genetic variation. The main role of meiosis
is production of haploid gametes as cells produced by meiosis have half the number of
chromosomes. Reduction division takes place where the chromosome number halves from
diploid to haploid.
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Meiosis produces genetically different cells; genetic variation is achieved through:
● Crossing over of chromatids where pairs of chromosomes line up and exchange
some of their genetic material
● Independent assortment of chromosomes – there are various combinations of
chromosome arrangement
During fertilisation the random fusion of gametes also increases genetic variation in
offspring.
Monohybrid and Dihybrid Crosses:
● Used to predict the ratios of inherited characteristics in a population
● Monohybrid crosses are used to determine the outcome of one gene. It will have
four outcomes and have a ratio of 3:1, where the dominant trait is more common.
An example of this would be crossing heterozygous green and yellow pea plants:
G= green (dominant allele)
g= yellow (recessive allele)
(Gg x Gg)
G g
G GG Gg
g Gg gg
The outcomes are GG, Gg, Gg and gg. As G is dominant, there is a 75% chance that
the offspring will display this allele in the phenotype and be green. There is a 25%
chance that the offspring will be yellow.
● Dihybrid crosses are used to determine the outcome of two genes, each of which have two
alleles. This results in 16 outcomes.
E.g. Pea plants can be tall or short, and have purple or white flowers.
P= purple
p= white
T= tall
t= short
Crossing two heterozygous parents (PpTt x PpTt):
The gametes are PT, Pt, pT, and pt
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PT Pt pT pt
PT PPTT PPTt PpTT PpTt
Pt PPTt PPtt PpTt Pptt
pT PpTT PpTt ppTT ppTt
pt PpTt Pptt ppTt pptt
This results in a 9:3:3:1 ratio.
Albinism
Albinism is a condition that affects a person's melanin production in the skin and leads to
them having white hair, light eyes (may affect their eyesight) and pale skin.
The TYR gene is responsible for the production of tyrosinase. This is the enzyme that
controls melanin production. If a mutation in the TYR gene occurs, tyrosinase production is
hindered resulting in the person developing albinism.
Sickle cell anaemia
A condition where a person is deficient in the amount of healthy red blood cells it has. If a
person has sickle cell anaemia they have crescent-shaped red blood cells. This means they
have abnormal hemoglobin which can’t carry sufficient oxygen. The HBB gene is responsible
for producing a protein which is a subunit of haemoglobin. If a mutation occurs in the HBB
gene then the red blood cell’s haemoglobin will be altered leading to sickle cell anemia.
Hemophilia
A sex-linked recessive disorder which only affects males. It is carried on the X chromosome
and females can be carriers of the disorder. It is when a person's blood doesn’t clot
normally due to the lack of the blood-clotting factor. If this isn’t treated it can lead to
prolonged bleeding which can be fatal. A mutation in the FB gene leads to a factor VIII
deficiency causing haemophilia.
Huntington’s disease
A neurodegenerative disease which affects the brain and the spinal cord (central nervous
system). The HTT gene codes for a protein called huntingtin which plays a role in normal
functioning of neurones. A mutation in the HTT gene causes Huntington's disease.
Chi-squared test
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The chi squared test is a statistical test which can be used to establish whether the
difference between observed and expected results is small enough to occur purely due to
chance.
● It can be used if the sample size is sufficiently large, that is over 20. It can only be
used for discontinuous variation data in the form of raw counts.
● The chi squared test can be used to determine whether the null hypothesis is
correct or not. The null hypothesis is the assumption that there is no difference
between observed and expected results.
● The value obtained is compared to the critical value, and in a case where the value
obtained is less than the critical value, the null hypothesis is accepted as the
difference due to chance is not significant
● Whereas in a case where the x2 value is greater than critical value, the null
hypothesis is rejected meaning that the difference between observed and expected
results is not due to chance, as is significant.
Mutations
Mutations are changes in the sequence of nucleotides in DNA molecules. Types of
mutations include:
● Insertion/deletion mutations where one or more nucleotide pairs are inserted or
deleted from the sequence. This type of mutation alters the sequence of nucleotides
after the insertion/deletion point known as a frameshift.
● Point mutation/substitution occurs where one base pair is replaced by another (this
may have no effect).
● A nonsense mutation is one where a translation is stopped early thus giving rise to a
truncated polypeptide due to premature introduction of a stop codon.
● A missense mutation is a codon change which results in the production of a different
amino acid, thus resulting in altered tertiary structure of the protein. The extent of
the effect of this is determined by which amino acid is replaced. For example, if it is
an amino acid which makes up an active site, it may make an enzyme inactive.
● A silent mutation is a codon change which does not affect the amino acid sequence
produced.
Mutations can either have neutral effects where the mutation causes no change to the
organism, for example in a case where the mutation occurs in a non-coding region of DNA
or is a silent mutation, as described above. A mutation can also be neutral when a change in
tertiary structure of the protein has no effect on the organism.
Some mutations are beneficial, for instance, humans developed trichromatic vision through
a mutation. Harmful mutations include a mutation in the CFTR protein which causes cystic
fibrosis.
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Conditions caused by gene mutations:
Human condition Effect of mutation on phenotype
Albinism Albinism is a result of a mutation in a gene
that causes the production of melanin. This
causes little or no melanin to be produced,
resulting in light hair and skin colour, and
vision impairment.
Sickle cell anaemia Caused by a missense mutation in the
beta-haemoglobin gene. This causes red
blood cells to become sickle shaped. Sickle
cells carry less oxygen and can block blood
vessels.
Haemophilia Caused by a mutation in the FVII or FIX
genes located on the X chromosome, which
code for proteins that are important in
blood clotting. The result is that blood
cannot clot correctly.
Huntington’s disease Huntington’s is caused by a mutation to the
HTT gene, which makes a protein called
huntingtin. It leads to the degeneration of
nerve cells in the brain, causing cognitive
and movement problems.
Controlling gene expression
Gene expression can be controlled at the transcriptional, post-transcriptional, translational
and post-translational levels.
An example of transcriptional control is the lac operon, which is a length of DNA composed
of structural genes and control sites which controls the expression of beta-galactosidase
responsible for hydrolysis of lactose in E.coli. The operon consists of a promoter region
which is the binding site for RNA polymerase to initiate transcription, operator region
where the inhibitor binds and structural genes which give rise to 3 products, beta
galactosidase, lactose permease and another enzyme. The inhibitor is coded for by a
regulator gene, located outside the operon which binds to the operator region.
In a case where the concentration of glucose is high and the concentration of lactose is low,
the transcription of the structural genes is inhibited due to binding of the repressor to the
operator region. However, in a case where the concentration of glucose is low and
concentration of lactose is high, lactose binds the repressor thus causing the shape of its
active site to change, therefore making it ineffective. This means that it can no longer bind
to the operator region and transcription of the structural genes takes place.
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Gene expression can also be controlled by transcription factors which have the ability to
switch genes on and off. They do so through interaction with the promoter sequence of
DNA to either initiate or inhibit transcription.
Gene expression is controlled at post-transcriptional level by editing of the primary mRNA
transcript, during which the non-coding regions called introns are removed, thus creating a
mature transcript consisting only of protein-producing regions known as exons.
Gene expression can be controlled at the post-translational level. For example, proteins
such as adrenaline can be activated with the help of cyclic AMP. This occurs when
adrenaline binds to a complementary receptor, which activates the enzyme adenylate
cyclase which converts ATP to cyclic AMP which starts a cascade of enzyme reactions within
the cell, thus activating the protein.
Gibberellin is a plant hormone that controls plant growth and seed germination by
controlling the production of amylase. It does this by breaking down DELLA, a repressor
protein which inhibits the binding of a transcription factor to the gene promoter region. As
a result, the transcription factor can bind and transcription of the gene can occur which
increases the synthesis of amylase. The height of plants is controlled by whether the active
form of gibberellin is present, which is determined by the plants genes: if the dominant
allele (Le) is present, gibberellin is active and the plant grows tall, if the recessive allele (le)
is homologously present, a non-functioning gibberellin enzyme is coded for, thus the plant
remains short.
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