Edexcel Biology GCSE

Topic 3: Genetics
Notes
(Content in bold is for higher tier only)

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CONTENTS

3.1B and 3.2B -​ ​**Biology Only** Advantages and Disadvantages of Sexual and
Asexual Reproduction
3.3 - Role of Meiosis
3.4 - The Structure of DNA
3.5 and 3.6 - The Genome and Extracting DNA
3.7B and 3.8B - ​**Biology ​and Higher Only** The Stages of Protein Synthesis
3.9B and 3.10B - *​ *Biology a​ nd Higher Only** Genetic Variants and their Effects
3.11B - ​ ​**Biology Only** Mendelian Genetics
3.12 - Alleles
3.13 - Basic Genetics Terminology
3.14 - Monohybrid Inheritance and Genetic Diagrams
3.15 - Sex of Offspring
3.16 - Outcomes and Pedigree Analysis
3.17B - ​ ​**Biology Only** ABO Blood Group Inheritance
3.18B - ​**Biology ​and Higher Only**​ ​Sex-linked Inheritance
3.19 - Multiple-Gene Inheritance and Causes of Variation
3.21, 3.22 and 3.23 - Human Genome Project, Genetic Variation and Mutation
affecting Phenotype

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 3.1B and 3.2B - Sexual and Asexual Reproduction

1. Sexual reproduction​ involves the joining of male and female ​gametes​, each
containing genetic information from the mother or father.
● Sperm and egg cells in animals
● Pollen and egg cells in flowering plants

Gametes are formed by meiosis, as they are non identical.

A normal cell has ​46 chromosomes​. There are two sets of chromosomes (i.e. 23 pairs). In
each pair, one chromosome is from the father and the second set are from the mother.
Each gamete has 23 chromosomes and they fuse in ​fertilisation​.
The genetic information from each parent is mixed, producing variation in the
offspring.

2. Asexual reproduction ​involves one parent with no gametes joining.

It happens using the process of mitosis, where two identical cells are formed from
one cell.
There is no mixing of genetic information.
It leads to clones, which are genetically identical to each other and the parent.
Examples of organisms that reproduce this way are bacteria, some plants and some
animals.

Advantages of sexual reproduction Advantages of asexual reproduction

Produces ​variation​ in offspring. Only one parent is needed.

● This means that if the environment
changes it is likely that an organism
in the species will have a
characteristic that allows them to
survive (called a ​survival
advantage​).
● Although some individuals may die,
variation decreases the chance of
the whole species becoming
extinct​.

It allows us to use ​selective breeding​. Uses less energy and is faster as

● This type of reproduction mixes the organisms do not need to find a mate.
genetic information from two
organisms
● Organisms with different ​desirable
characteristics​ can be bred to
produce offspring with even more
desirable characteristics.

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 ● This speeds up ​natural selection​.
● An example is to increase food
production by breeding two animals
with lots of meat.

In favorable conditions lots of identical

offspring can be produced.

3.3 - The Importance of Meiosis

While mitosis is used for the division of ordinary body cells to produce diploid (2n) daughter
cells, ​meiosis ​is used to produce haploid gametes (sperm and egg cells). Gametes only
have one copy of each chromosome.

Meiosis​ ​is the formation of four non-identical cells from one cell.

● The cell ​makes copies​ of its chromosomes, so it has double the amount of genetic
information.
● The cell divides into two cells, each with half the amount of chromosomes ​(46)​.
● The cell divides again producing four cells, each with a quarter the amount of
chromosomes ​(23)​.
● These cells are called gametes and they are all ​genetically different​ from each
other because the chromosomes are shuffled during the process, resulting in random
chromosomes ending up in each of the four cells.

These gametes with 23 chromosomes join at fertilisation to produce a cell with 46

chromosomes, the normal number.
● This cell divides by mitosis to produce many copies.
● More and more cells are produced, and an ​embryo​ forms.
● The cells begin to take on different roles after this stage (​differentiation​).

3.4, 3.5, 3.6 - The Structure of DNA, The Genome and Extracting
DNA

DNA, found in the nucleus, is a chemical that contains genetic material.

DNA stands for ​deoxyribonucleic acid​, and this is a polymer that contains
instructions for the body.
● It is made up of many small parts called ​nucleotides​.
● Each nucleotide is made up of ​one sugar molecule​, ​one phosphate
molecule​ (which form the backbone) and o ​ ne of the four types of organic
bases​.
● The four types of organic bases are ​A, C, G, T​.

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 ● Each DNA molecule is made up of ​two DNA strands​ which are twisted
together. Each base is connected to another base in the other strand.
● A bases only connect to T bases, and C bases only connect to G bases. This
is called ​complementary base pairing​.
● The order of the different bases forms a ​genetic​ ​code ​- e.g. A, G, T, T, C, A,
A etc.

DNA is a​ polymer​ (long molecule) made up of two strands which are wound around each
other to form a structure called a ​double helix​.

A ​gene​ is a short section of DNA. Each gene codes for many ​amino acids​, which are joined
together to make a specific ​protein​.
● There are 20 types of amino acid.

The word ​genome​ describes all the genetic information (DNA) of a single organism. The
human genome has been studied, which has improved our understanding of the genes
linked to different types of disease, the treatment of inherited disorders and has helped in
tracing human migration patterns from the past.

Extracting DNA from Fruit

It is possible to extract DNA from fruit using household ingredients:

- Gently mix together 50ml cold water, half a teaspoon of salt and 10ml washing up
liquid. Gently heat this mixture at 50C for 5-10 minutes.
- Peel the skins of a kiwi and chop into small pieces. Pulverise the kiwis.
- Add the solution from Step 1 to the kiwi.
- Filter the solution using a few sheets of kitchen paper and a sieve. Pour the filtrate
into a test tube.
- Add 10ml of pineapple juice to the filtrate and allow to rest for a few minutes.
- Add 2 teaspoons of cold ethanol to the solution and wait 10 minutes.

What should we see?

A white mass should precipitate at the top of the tube after 10 minutes; this is the DNA from
the kiwi.

Why do we add pineapple juice?

Pineapple juice contains an enzyme called ​bromelain ​which breaks down proteins attached
to the DNA. This helps us see the DNA more clearly.

Why do we add ethanol?

Ethanol causes the DNA to precipitate out of the solution - making it visible at the top of the
container.

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3.7B and 3.8B **Biology and Higher Only** -​ ​The Stages of Protein
Synthesis

● Each group of ​three bases (e.g ACT, AGG, GAC)​ codes for an ​amino
acid​.
● The amino acids are joined together and fold to make a protein. It is the
different types and order of amino acids that determine which type of
protein it is. Often these proteins are enzymes, which need to have a
very specific shape.
● Therefore it is the order of bases in DNA that determine which proteins
are produced.

There are also non-coding parts of DNA that do not code for proteins. Some of them
are responsible for switching genes on or off, i.e. controlling whether the gene is used
to form a protein or not.

Protein synthesis: the process of producing a protein from DNA

If a gene is coded to make a protein, it has been ​expressed​.

1. DNA contains the genetic code for making a protein, but it cannot move out of
the nucleus as it is too big.
2. The mRNA nucleotides themselves are then joined together, creating a new
strand called the mRNA strand. This is a ​template​ of the original DNA.
3. An enzyme called ​RNA polymerase​ binds to ​non-coding DNA​ located in front of
a gene on the DNA strand.
4. The two strands of DNA pull apart from each other, and RNA polymerase
allows ​mRNA nucleotides​ (messenger RNA: a different type of nucleotide) to
match to their complementary base on the strand.
5. The mRNA then moves out of the nucleus to the cytoplasm and onto structures
called ​ribosomes​.
6. At the ribosomes, the bases on the mRNA are read in threes (​triplets​) to code
for an amino acid (the first three bases code for one amino acid, the second
three bases code for another etc).
7. The corresponding amino acids are brought to the ribosomes by ​carrier
molecules​ called ​tRNAs - transport RNAs.
8. These amino acids connect together to form a polypeptide (amino acids linked
by peptide bonds).
9. When the chain is complete the protein folds to form a unique 3D structure,
which is the ​final protein​.

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 3.9B and 3.10B **Biology and Higher Only** - Genetic Variants and
their Effects

Genetic variants​ are small changes in the order of bases that make up a strand of
DNA. They can affect the structure of proteins in different ways, depending on
whether they occur in ​coding DNA ​or​ non-coding DNA.

Genotype​ refers to the genes present in the DNA of an individual, whereas ​phenotype
refers to the visible effects of those genes (e.g the proteins that they code for).

Coding DNA​: A genetic variant will alter the sequence of bases (e.g ACT -> AGT) and
therefore will change the sequence of amino acids (e.g Glycine -> Valine). This alters
the final structure of the protein produced.

Non-Coding DNA:​ A genetic variant in the coding DNA can affect phenotype
differently. The enzyme ​RNA polymerase ​(see Section 3.8B) binds to non-coding DNA,
and a change in the order of bases in this non-coding DNA can affect the amount of
RNA polymerase that can bind to it. If less RNA polymerase is able to bind, less
mRNA can be formed and the structure of the final protein is affected.

Mutations change the sequences of bases in DNA. Either:

1. A base is ​inserted​ into the code

● As they are read in threes, this changes the way it is read.
● It may change all the amino acids coded for after this insertion.
2. A base is ​deleted​ from the code
● Like insertions they change the way it is read.
● It may change all the amino acids coded for after this deletion.
3. A base is ​substituted
● This will only change one amino acid in the sequence or it may not
change the amino acid (as the new sequence can sometimes still code
for the same amino acid)

A change in the type/sequence of amino acids will affect the way it folds and therefore
the structure.

Most mutations do not alter the protein or only do so slightly.

Some can have a serious effect and can change the shape
● The substrate will not fit into the active site so it cannot act as a protein.
● A structural protein may lose its shape.

There can also be mutations in the non-coding parts of DNA that control whether the
genes are expressed.

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 3.11B **Biology Only**​ ​-​ ​Mendelian Genetics

Gregor Mendel
● Trained in mathematics and natural history in Vienna
● Worked in the monastery gardens and observed the characteristics passed on to the
next generation in plants
● He carried out breeding experiments on pea plants.
● He used smooth peas, wrinkled peas, green peas and yellow peas and observed the
offspring to see which characteristics they had inherited
● Through keeping a record of everything he did and eventually publishing his work in
1866, he came to these conclusions:
○ Offspring have some characteristics that their parents have because they
inherit ‘​hereditary units​’ from each.
○ One unit is received from each parent.
○ Units can be dominant or recessive, and cannot be mixed together.

Mendel was not recognised till after his death as genes and chromosomes were not yet
discovered, so people could not understand.
● In the late 19th century chromosomes as a part of cell division were observed
● In the 20th century, it was understood that chromosomes and units had similar
behaviours. It was decided that units (now known as genes) were on the
chromosomes.
● The structure of DNA was determined in 1953, which meant we were able to
understand how genes worked.

3.12 and 3.12 - Alleles and Basic Definitions

You need to know the definitions for a number of terms:

Gamete An organism’s reproductive cell (egg in female and sperm in males),

which has half the number of chromosomes (23).

Chromosome A structure found in the nucleus which is made up of a long strand of

DNA.

Gene A short section of DNA that codes for a protein, and therefore
contribute to a characteristic.
Some characteristics are controlled by a single gene, such as fur
colour in mice and red-green colour blindness in humans. However,
most characteristics are the result of many different genes interacting.

Alleles The different forms of the gene - humans have two alleles for each
gene as they inherit one from each parent.

Dominant allele Only one (out of the two alleles) is needed for it to be expressed and

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 for the corresponding phenotype to be observed.

Recessive allele Two copies are needed for it to be expressed and for the
corresponding the phenotype to be observed.

Homozygous When both inherited alleles are the same (i.e. two dominant alleles or
two recessive alleles).

Heterozygous When one of the inherited alleles is dominant and the other is
recessive.

Genotype The combination of alleles an individual has, e.g. Aa

Phenotype The physical characteristics that are observed in the individual, e.g.
eye colour

Zygote The stage of development immediately after fertilisation - a diploid

(2n) cell formed from the fusion of two haploid gametes

Alleles​ (different forms of the same gene) lead to ​differences in inherited characteristics​.
This is because different alleles code for different forms of the same protein - an allele that
codes for a ​damaged form of a protein​ can cause illness. For example, in a condition
called Huntington’s Disease, an allele of the gene that codes for a particular protein is
different. This leads to the protein becoming ​folded incorrectly​ and causing the condition.

3.14 - Monohybrid Inheritance and Genetic Diagrams

Family trees show the inheritance

of different phenotypes over
generations in the same family.

A ​monohybrid (single gene)

cross​ ​looks at the probability of
the offspring of two parents having
certain genotypes and
phenotypes.This is done using the
alleles the two parents have for a
gene and a ​Punnett square
diagram​. You should be able to
draw and use a Punnett square
diagram.

Uppercase letters ​are used to represent ​dominant characteristics​. Lowercase letters

represent recessive characteristics. You can choose any letter but usually either A or B is
used for simplicity. Notice that combining the alleles shown above results in ​¼ chance​ of
having an offspring who is ​homozygous dominant (BB, or has two dominant alleles),

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and there is no chance of having a homozygous recessive offspring (as both parents have
the allele). Whether or not the Bb (heterozygous recessive) offspring show symptoms
depends on whether the condition itself is ​recessive​ or ​dominant.

Family pedigrees ​are used to show how a condition (or more specifically, the allele which
causes it) are passed down through different generations. We can use them to ​better
visualise certain patterns​ - for example, the way that recessive alleles normally ‘skip a
generation’:

We usually use ​squares to represent males​, and ​circles to represent females​ in the
lineage.
Black shapes​ represent an affected individual, and​ white shapes​ represent an unaffected
individual.
A​ line through the shape ​means that the individual is deceased.

A line passing directly between two shapes means that the two are ​partners​, and a line
overhanging a group of individuals means that they are ​siblings.

3.15 - Sex of Offspring

Human body cells have 23 pairs of chromosomes.

● 22 control characteristics, and the chromosomes in each pair look very similar
● The 23rd pair carries ​sex determining genes​, and the two chromosomes can look
different to each other (Y chromosomes are much smaller than X chromosomes)

The two possible chromosomes in the 23rd pair are ​X chromosomes​ and ​Y
chromosomes​. When cells undergo meiosis to form a gamete, one sex chromosome goes
into each gamete.
● Females have two X chromosomes, so therefore only pass on X chromosomes in
their eggs.

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 ● Males have one X chromosome and one Y
chromosome, so therefore can pass on X or Y
chromosomes in their sperm.

Punnett squares can be used to show sex inheritance. As

shown in this diagram, there is a 50% chance of the child being
male, and a 50% chance of the child being female.

3.16 - Outcomes and Pedigree Analysis

We can use monohybrid crosses (Punnett squares) and pedigree analysis to analyse the
probabilities of particular outcomes:

If the cystic fibrosis gene is autosomal recessive, and we use C/c for the normal and
defective allele respectively:

We can see that the risk of having both defective alleles (CC) is one out of four, or ¼ (25%).

3.17B **Biology Only** - ABO Blood Group Inheritance

There are often important patterns to be seen in inheritance of particular genes. For
example, sometimes 2 dominant alleles can be expressed ​together ​in the same individual.
This is called ​codominance. ​When three or more alleles can be present at the same loci
(but not necessarily expressed at once), we say that ​multiple alleles ​are present at the
same position, or ​locus​.

An example of ​codominance ​and ​multiple alleles ​is the ​ABO blood group system​, where
there are alleles for A, B and O that can all be expressed at the same locus (position). Only
two of them are expressed at once, however, with the following pattern (note that the O
allele is recessive, and the A and B alleles are dominant):
A and O alleles: becomes type A
A and B alleles: becomes type AB (codominantly expressed)

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 A and A alleles: becomes type A
B and B alleles: becomes type B
O and O alleles: becomes type O

It should be clear from the above that Type O blood is significantly more rare than types
involving A or B alleles.

3.18B **Biology and Higher Only** -​ ​Sex-linked Inheritance

Some alleles are not found on chromosome pairs 1-22: instead, they are found on the
sex chromosomes X and Y​. Remember that in humans, males carry an X and a Y
chromosome (​XY​), whereas females carry two X chromosomes (​XX​). If these alleles
cause a genetic disorder, it is known as a ​sex-linked genetic disorder. ​The majority of
sex-linked conditions are found on the X chromosome.

When using Punnett squares to demonstrate sex-linked inheritance, we can use X​D ​to
represent an X chromosome with the affected gene, and X to represent one that is
unaffected, for example.

X-linked ​conditions can be ​recessive​ or ​dominant​.

Usually, X-linked recessive syndromes are more common in males - because in

females, there is an extra X chromosome to mask the effect of the recessive allele.
However, in males, there is only one X chromosome and if it contains the defective
allele, the individual will have the condition.

3.19 and 3.20 - Multiple-gene Inheritance and Causes of Variation

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Most ​phenotypic features​ are the result of ​multiple genes​ acting together, and not single
genes. For example, as many as ​16 genes​ are thought to be responsible for human eye
colour.

Variation between individuals is an important factor in allowing natural selection to happen,

and it originates from one of two main areas:

a) Genetic variation - ​different characteristics can arise as a result of both random

mutation​ and ​sexual reproduction​. Random mutation occurs in gametes to
produce offspring with ‘brand new’ phenotypic characteristics, whereas sexual
reproduction causes the offspring to have a new combination of characteristics from
both its mother, and its father.

b) Environmental variation - ​characteristics can also be caused by an organism’s

environment, but these changes are generally not ​heritable ​(there is no change in the DNA
of the organism). For example, a child who does not receive adequate nutrition will not grow
to their full height, however this has no effect on their potential height as determined by their
genetics.

3.21, 3.22 and 3.23 - Human Genome Project, Genetic Variation and
Mutation affecting Phenotype

Remember - the word ​genome​ describes all the genetic information of that organism. The
human genome has been studied, or ‘mapped’ as part of the​ Human Genome Project​,
which has:

- improved our understanding of the ​genes linked to different types of disease

- helped in the​ treatment of inherited disorders
- helped in ​tracing human migration patterns​ from the past.

By mapping the entire human genome, we are better able to understand ​which genes
cause inherited disorders ​and which genes are linked with each other.

There is usually extensive genetic variation within a population of a species - this arises
through ​random mutation​.

Genetic mutation can have varying effects on the phenotype. For example, the majority of
mutations have no effect on the phenotype as they occur in DNA which ​does not code for
proteins (non-coding DNA). ​Some mutations can have a small effect on the phenotype,
and other mutations, rarely, can significantly affect the phenotype - for example, changing
one base can change one amino acid in a protein. If the protein was an enzyme, this has the
potential to ​change the shape of the active site​ so that substrates can no longer bind to it.

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