As Edexcel unit 1me

Jan
Jan 2023 class

-
Topic 1A
D
Topic 2c
Chemistry
Gene expression
for biologist
16/12/2023
Part 1
Mutation
Cystic fibrosis
 Gene mutation

Random change in base sequence of DNA during DNA replication ….thus producing new allele ..leading to protein of different function /
shape .
Where errors are being copied during replication
Causes of mutation :
When wrong base is being inserted Triplet code….DNA
Exposure to mutagens :
chemicals as tobacco smoke and mustard gas Codon…mRNA
Physical such U.V rays , x rays Anticodon…tRNA
Types of mutation

Point mutation Frame shift

( substitution )

Affects only one triplet Deletion Insertion

Change in one single base of DNA code One nucleotide is One extra
missed out ..so Change nucleotide is
Has one of three effects
in one single base of inserted ….so the
DNA code entire base entire base
Silent mutation Non sense Mis sense sequence is sequence is altered
altered ..coding for an after mutation ..so
The base The base substitution can The base entirely different
substitution is substitution can be all amino acids
be non sense . Where the protein … where all
silent ..where the mis sense mutation amino acids are after mutation are
altered codon
altered codon where the altered different after affected ,code for
code for same corresponds to a stop codon , code for mutation …so 3D shape different protein
amino acid codon , so new poly another amino acid of protein is changed
peptide might be shorter
The to Closer to the start , the greater the effect
AGC….serine CCA…proline
TTC….phenylaninine
AGT….serine CCT…..arginine Shift reading
TTG…stop codon Shift forward
backwards one
place one place
6 Errors in DNA replication can give rise to mutations.
The diagram shows the bases in a length of DNA.

Length of DNA A T G C T C A T T T A C C A T C G A

Base number 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18

The table shows the genetic code for the amino acids.

Genetic Amino Genetic Amino Genetic Genetic

Amino acid Amino acid
code acid code acid code code
AAA CAA GAA TAC
Lysine Glutamine Glutamic acid Tyrosine
AAG CAG GAG TAT
TCA
AAC CAT GAC TCC
Asparagine Histidine Aspartic acid Serine
AAT CAC GAT TCG
TCT
ACA CCA GCA
ACC CCC GCC
Threonine Proline Alanine TGG Tryptophan
ACG CCG GCG
ACT CCT GCT
CGA GGA
AGA CGC GGC TGC
Arginine Arginine Glycine Cysteine
AGG CGG GGG TGT
CGT GGT
CTA GTA
AGC CTC GTC TTA
Serine Leucine Valine Leucine
AGT CTG GTG TTG
CTT GTT
ATA
TTC
ATC Isoleucine Phenylalanine
TTT
ATT

ATG Methionine

The genetic codes TAA, TAG and TGA are stop codons.
(a) State the sequence of the first four amino acids coded for by this length of DNA.
(1)
Methionine, leucine , isoleucine, tyrosine
. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

14
*P62792RA01428*
 (b) A change in a single base can cause a change in the amino acid sequence
produced in protein synthesis.
(i) Name the type of each mutation described below.
(2)

Base number 3 becomes cytosine (C) ............... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Substitution

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............................ . . . . . . . . . . . . . . . . . . . . .

Deletion
Base number 6 becomes number 5 in the sequence................................................................................................................... .....................

Insertion
Base number 9 becomes number 10 in the sequence ................................................................................................................ ....................

*(ii) Explain the possible effects of these three types of mutation on the amino
acid sequence coded for by this length of DNA.
Use the information in the table to support your answer.
(6)

Substation ( point mutation )

. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............ ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

Where there is a change in a single base of one triple code

. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............ ............................................................................................................................... . . . . . . . . . . . . . . . . . . . . . .

This may result in one of three possibilities

. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

Silent mutation
. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............ ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

Where the altered codon will code for the same amino acid due to the fact that
genetic code are degenerate
. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... . . . . . . . . . . . . . . . . . . . . . .

. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

Example: if base 6 was replaced by adenine then CTA still coding for leucine.

Non sense
. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............ ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

Where the altered codon will be stop codon , terminate translation early , so
. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... . . . . . . . . . . . . . . . . . . . . . .

shorter polypeptide
. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... . . . . . . . . . . . . . . . . . . . . . .

. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............ ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

Example if base 12 was replaced by Adenine

Mis sense
. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... . . . . . . . . . . . . . . . . . . . . . .

Where the altered codon code for a new amino acid

. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... . . . . . . . . . . . . . . . . . . . . . .

Example if base 3 replaced by cytosine , then this will code for isleucine instead of methionine.
. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............ ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

Deletion
. . . . . . . . . . . . .................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... . . . . . . . . . . . . . . . . . . . . . .

Where one base is removed , causing the entire sequence to be altered (shift the reading
. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ........... ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

frame backward one place).

. . . . . . . . . . . . ................................... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ............ ............................................................................................................................... .. . . . . . . . . . . . . . . . . . . . .

So all amino acids after mutation will be altered.

(Total for Question 6 = 9 marks)
Example: removal of base 4 cause sequence to become methionine serine phenylalanine threonine.

15
*P62792RA01528* Turn over
Where one base is added twice , causing the entire sequence to be altered
(shift the reading frame forward one place).

So all amino acids after mutation will be altered.

Example: adding T between base 9 and 10 sequence becomes leucine
proline serine
 B. Chromosomal
mutation

Whole
Chromosomal
chromosome
mutation
mutations
Change in the position of entire
The loss or duplication of whole chromosome
genes within a chromosome.
during meiosis.
Example: down syndrome which is caused by
a whole chromosome mutation at
chromosome 21

- Gene mutation : Read only

• change in nucleotide( base) sequence of DNA , so a new allele is formed .
• This can happen by deletion , substitution, addition.

r
• This change lead to change in the transcribed mRNA (mRNA with altered codons).

ab
• In case of substitution : a new amino acid with different R group may be
incorporated into the growing chain at the ribosome during translation.
• Causing a change in primary structure of protein( amino acid sequence on polypeptide).
lg
• Change in three dimensional shape of protein.
• So different protein with altered function or totally un functional protein may be produced.
iha
Also mutation can lead to cancer characterised by uncontrolled cell division to form a mass of
cells (functionless) known as a tumor.
.N

1 DNA- 2 mRNA- 3 Polypeptide-

One triplet is One codon is One amino acid is
different different different
Dr

(substitution) 4 Function of protein-

polypeptide forms a
different shape.
Amino acid Phe replaced
by Leu so bind cant be
firmed to form shape of
active site

5 Phenotype-
enzyme can’t function because
shape of active site is changed. Lack
of enzyme causes a genetic disease.
Individual is not healthy.

Dr.NIhal Gabr 152

 Explain why most mutation has no observable effect ?\
Imp
1. Genetic code is degenerate 3. Occur in non coding DNA
2. DNA repair mechanism 4. One allele might be affected Imp
Explanation of how a change in DNA sequence might lead to loss of enzyme activity
1. Mutation takes place where there is a change in base sequence of gene, so a new allele is
formed.
2. Resulting in a changed, mRNA codons
4. So different tRNA with different anticodon will be involved, as the tRNA will carry
different(incorrect) amino acid to ribosome.
5. So incorrect amino acid might be incorporated into the growing polypeptide chain, so change in
sequence of amino acids, meaning change in primary structure.
6. Polypeptide will fold differently ,leading to Change in tertiary structure(3D shape)
8. Active site will have a different shape/ charge.

r
9. So substrate no longer binds to active site. So no ESCs

ab
Genetic disorder
lg
Disorder resulting from a defect in gene

Sickle cell anemia as another example: Its an example of substitution mutation.

iha
The gene which codes for the amino acid sequence in the β polypeptides is not the same in
everyone. In most people, the β polypeptides begin with the amino acid sequence:
Val-His-Leu-Thr-Pro-Glu-Glu-Lys-
This is coded from the HbA (normal) allele of the gene. Hydrophilic R group
.N

But in some people, the base sequence GAG is replaced by GTG, and the amino acid sequence
becomes:
Dr

Val -Hi s-Leu-Thr-Pro-Val -Glu-Lys-

This is coded from the HbS (sickle cell) allele of the gene.Hydrophobic R group
This type of mutation is called a substitution. In this case, the small difference in the amino acid
sequence results in the genetic disease sickle cell anaemia in individuals with two copies of the
HbS allele.

Dr.NIhal Gabr 153

 Features of sickle cell disease

1. RBCs become sickled shaped

2. Less / smaller surface area
3. Haemoglobin less soluble
4. So less able to bind to oxygen
5. So less oxygen diffuse from RBCs in blood to body cells
6. / less O2 transported to body cells
7. So less aerobic respiration ..less energy ….anaemia
8. As well as heart attack if heart muscle is deprived of oxygen
9. RBCs stick together and block capillaries

OR

Haemoglobin carrying capacity is reduced / haemoglobib carry less oxygen .

RBCs become sickle shaped so smaller surface area so less gas exchange by
allowing less diffusion of oxygen from RBCs to body cells

Blood vessels get blocked so reducing amount of oxygen being transported to

body cells so less aerobic respiration

So heart muscles become deprived of oxygen , so heart attack/ angina

Break
10;45
 Second: 2C.2 :pattern of inheritance:

Gene:

A length of DNA coding for specific protein, determining specific characteristics.

Allele:

Alternative forms of same gene.

May be:

Dominant Recessive

r
Allele expressed in phenotype only

ab
Allele expressed in phenotype
when individual is homozygous for
whether the individual is
that recessive trait.( both alleles
homozygous or heterozygous for
coding for recessive trait)
that allele.
lg
Homozygote : Heterozygote :
iha
An individual An individual
when both alleles where the 2
coding for a alleles coding for
.N

particular a particular
characteristic are characteristic are
identical different
Dr

Genotype:

Genetic make up of an organism with respect to a particular feature

OR combination of /pair of / two / all alleles present in an organism of a particular
trait.
Phenotype:

All characteristics of an organism

Determined by an interaction between genes(genotype) and environment
(observable features)

Dr.NIhal Gabr 154

True breeding:

A homozygous organism which will always produce the same offspring when crossed
with another true breeding organism for the same characteristic.
which means the parents must be both dominant or both recessive.
Monohybrid
cross

A genetic cross where only one gene for one characteristic is considered.

r
ab
lg
Test cross A test made to find out the genotype of an individual with dominant phenotype
iha
for a particular gene by crossing it with one known to have the homozygous
recessive genotype for the same gene.
To reveal the parental genotype ( being homozygous dominant or
heterozygous.
.N
Dr

Dr.NIhal Gabr 155

 Codominance:

When pair of alleles are equally dominant , so in heterozygous where both alleles at a gene
locus are fully expressed in the phenotype.
Example blood groups

I A and I B are codominant . This means both alleles are expressed and produce their
proteins (antigens) which act together without mixing.
A B
So person with genotype I I will have both antigens, antigen A and antigen B on the
surface of their erythrocytes and will have blood group AB.

1 2

r
ab
Parental phenotype : mother group A Parental phenotype : mother group B
lg
Father group O Father group A
iha
3 Exam hint:
When asked to explain why a
certain organism is used for
.N

scientific experiments:
1. May have short life cycle.
2. Organism may be cheap
Dr

Parental phenotype : mother group A and easy to keep.

Father group B 3. It may produce many
offsprings

Pair of alleles are equally dominant , so in heterozygous , where both alleles at a gene
locus are fully expressed in the phenotype
So the phenotype is intermediate of both
A id dominant over O O is recessive
B is dominant over O A and B are exmaple of codominance

Dr.NIhal Gabr 156

 Sampling error:

The theoretical ratios of phenotypes that are predicted by a genetic cross are usually seen
(approximately) in real genetic experiments , however, the numbers are never precise .
This is may be due to:
1. Reproduction is a result of chance. Where combination of alleles in each gamete is
completely random and so is the joining of particular gamete.
Yet the theoretical diagrams we draw doesn’t show this.

2. Some offsprings die before they can be sampled . Example some seeds don’t germinate and
some embryos miscarry.

3. Inefficient sampling techniques, example its very easy to allow few Drosophila to escape.

Solution

r
1. So sampling error must be taken into account specially when you are using smaller sample

ab
2. use fast growing plants , Drosophila, and certain fungi and bacteria are so useful as they all
produce large number of offsprings kn a short time.
Why use drosophila in
lg scientific exp ?
Genetic pedigree: 1. Cheap and easy to keep

Dominant feature ..one allele Dd Dd

2. Produce many
offsprings / fast
Recessive feature …2 alleles
iha
3. Short life cycle
Dd dd dd dd

dd dd dd dd dd dd
.N

dd dd
Dr

Recessive
Learning tip:
Always remember
to look for the alleles shows
individuals that
show the recessive low
phenotype because
these are the only frequency
Solution
ones where you
can be sure of the
genotype- they are
double recessive.

Dr.NIhal Gabr 157

 Genetic pedigree
useful in case of:

Useful incase of genetic diseases, as they help predict which family members may be carriers/
diseased by gene mutation.
Used whenever selective breeding for animals is needed.
They can track mutation in rate animals.

Bb
Male
Bb
Female bb
A B
Learning tip: Learning tip:
This tree shows a
When 2 normal parents
recessive genetic disorder
(1,2)give rise to abnormal
as two normal
parents(1,2)give rise to
diseased child(3).

r
diseased child (3) Possible conclusion:
Disease is recessive

ab
Parents are heterozygous
Child homozygous recessive
lg and has obtained
iha
Third: 2C.3 :Sex linkage:
The chromosomes
.N

Autosomes found in all body cells

carrying information
Dr

controlling body
characteristics but
don’t determine the
gender/ sex.

An individual who produces gametes that contain

Homogametic: only one type of sex chromosome -in human this is
the female.

An individual who produces two types of gametes

Heterogametic: each containing different types of sex chromosome -in human this is the
male.

Dr.NIhal Gabr 158

Sex linked diseases

Genetic disease controlled by faulty allele ( resulting from a mutated

allele), carried on a sex chromosome (x-chromosome) , making it
more common in males than in females and is inherited on X-
chromosome to the next generation from the parent.

Recessive sex linked diseases, are more common in males than females, as
males have only one X chromosome and thus can’t be heterozygous
carriers, so if they inherit a recessive allele on X chromosome from the
mother they are diseased.
Example
1.Red green color blindness

The normal (dominant) allele of the gene causes a protein to

be produced that forms the pigment in the cones of the eye
that detects green light . The mutant (recessive) allele does
not cause this pigment to be formed ( b )
mutant recessive allele
have difficulty seeing the difference between red & green.
 2 . Haemophilia

condition caused by gene mutation which affects production

of a certain protein that is important in clotting.
The disease is recessive, h
People with hemophilia tend to bleed internally
Carrier female Normal male
XX XY

X X X Y

XX, XX, XY , XY
Normal female , carrier female , normal male , haemophilic male

Cystic fibrosis Faulty recessive allele

Due to mutation in gene coding for CFTR protein on AUTOSOME

Affect production of mucus by epithelial cells

CFTR gene is a large gene ( higher risk of mutation ) where mutation can
lead to abnormal CFTR protein and cause stick mucus
 1. Normal CFRT gene
2. So code for a normal CFTR channel protein so can function properly
3. CL- ions leave the cells through CFTR proteins into the mucus .
4. Sodium channels inhibited by CFTR so Na+ ions remain outside sell in mucus
5. So NACL causes the mucus to be hypertonic
6. So water move out of the cells by osmosis
7. Resulting in water thinner mucus
8. Cilia can beat
9. Cilia can move mucus away from airways / bronchi/ bronchioles .

1. Mutation in the CFTR gene ( faulty allele ) leads to change in primary structure of CFTR protein
2. So CFTR cant function properly
3. CL- ions build up inside the cell
4. Water doesn’t move out of the cells by osmosis / or water moves out from mucus and enter the ce
by osmosis.
5. Resulting in thick sticky mucus
6. Cilia can’t beat
7. Cilia cant move mucus away as its TOO THICK
8. • Reducing air flow to alveoli so reducing rate of gas exchange
Where this will result in reduction in concentration gradient/ diffusion of gases ( as less oxygen is
reaching alveoli )
9. Mucus trap dust and bacteria , so can cause infection
The effect on respiratory system

1. Thick sticky mucus

2. Narrowing air ways …trachea , bronchi and bronchioles
3. Reduce air flow into alveoli
4. Concentration gradient gradient between blood and alveoli will decrease
5. Reduce gas exchange
6. So less OXYGEN carried by blood
7. Less aerobic respiration
8. Less ATP
9. Lack of energy
10. Coughing sticky mucus
11. Pathogens reach the lungs increasing susceptibility to lung infection

The effect on digestive system

1. Block to the pancreatic duct

2. No enzymes ( amylase / trypsin / lipase )
3. Not reaching duodenum / small intestine
4. so digestion would be less efficient

5. Enzymes trapped in pancreas will start digesting cells of pancreas …diabetes

6. Block villi by excessive mucus so reduce surface area for absorption so less
absorption of nutrients
The effect on sweat glands

With normal CFTR

1. CFTR mutation so less CL- ions
1. CFTR allow Cl- ions to move into the
will move into the cells
epithelial cells
2. So more salts (. Chloride and
2. So less Cl- ions are lost in sweat
sodium ) are lost in sweat
3. Reducing water loss and preventing
3. So more water will leave epithelial
dehydration
cells by osmosis. Increasing chance
of dehydration .