Topic 2 Inheritance and Genes

Some genetic disorders are caused by mutations

- Mutations are changes to the base sequence of DNA.

- They can be caused by errors during DNA replication.
- The type of error that can occur include:

- The order of the base sequence of a gene determines the order of amino acids in a particular protein. If a
mutation occurs in a gene, the primary structure of a protein it codes for could be altered.

Gene mutation:-

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Chromosomal Mutation:-

- If a mutation occurs in a gene it could cause a genetic disorder, which is then passed on. E.g. Cystic fibrosis
(CF) is a genetic disorder caused by a mutation in a gene. The protein the gene codes for is important for
mucus production.
- Some genetic disorders can be caused by lots of different mutations, e.g. over 1000 possible mutations are
known to cause CF.

Term Description
Gene

Allele

Genotype

Phenotype

Dominant

Recessive

Homozygote

Heterozygote

Carrier

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Genetic Diagrams - can be used to predict the genotypes and phenotypes of the offspring produced if two parents
are crossed (bred).

Monohybrid inheritance – is the inheritance of a single characteristic controlled by different alleles.

Seed Morphology

1. The shape of garden pea seeds is controlled by a single gene with two alleles.
2. The allele for smooth seed (S) is dominant over the allele for wrinkled seeds (s).
3. Draw the diagram to show the predicted genotypes and phenotypes of the offspring if a homozygous
pea plant with smooth seeds is crossed with a heterozygous pea plant with smooth seeds.

Seed Morphology

1. Draw the diagram to show the predicted genotypes and phenotypes of the offspring if a homozygous
pea plant with smooth seed is crossed with a homozygous pea plant with wrinkled seeds.

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Plant Height

1. The height of garden pea seeds is controlled by a single gene with two alleles.
2. The allele for tall plant (T) is dominant over the allele for dwarf plants (t).
3. Draw the diagram to show the predicted genotypes and phenotypes of the offspring if two
heterozygous pea plants are crossed.

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Thalassemia

1. Thalassemia is forms of inherited autosomal recessive blood disorders.

2. In thalassemia, the disorder is caused by the weakening and destruction of red blood cells. Thalassemia
is caused by variant or missing genes that affect how the body makes haemoglobin.

Haemoglobin is the protein in red blood cells that carries oxygen. People with thalassemia make less
haemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe anaemia.
The thalassemia is a group of recessively inherited conditions.

3. Draw the diagram to show the predicted genotypes and phenotypes of the offspring if two heterozygous
parents are crossed together.
4. Draw the diagram to show the predicted genotypes and phenotypes of the offspring if two homozygous,
one dominant and the other recessive parent are crossed together.

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Cystic Fibrosis

1. Cystic fibrosis is an inherited disorder that affects the cell membranes, causing the production of thick
and sticky mucus. It is caused by a recessive allele.
This means that it must be inherited from both parents.
2. The cystic fibrosis allele is represented by f. The normal allele is F.
3. Draw the diagram to show the predicted genotypes and phenotypes of the offspring if two
heterozygous parents are crossed together.

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Blood Group

Some genes are codominant, which is they are both expressed phenotypically. Since there is a possibility of
more than two alleles for this gene, it is an example of multiple alleles.

The four main blood types: A, B, AB and O.

Draw the diagram to show the predicted genotypes and phenotypes of the offspring if two heterozygous
parents with blood group A and B are crossed together.

Draw the diagram to show the predicted genotypes and phenotypes of the offspring if two heterozygous
parents with blood group AB and B are crossed together.

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Huntington’s disease

Huntington’s disease is an inherited disorder that affects the nervous system. It is caused by a dominant allele.
This means it can be passed on by just one parent if they have the disorder. If a heterozygous parent and a
homozygous recessive parent produces a child, what is the probability that the child will have Huntington’s
disease.

Achondroplasia

Achondroplasia can also be inherited in an autosomal dominant pattern, which means that one copy of the
altered gene in each cell is sufficient to cause the disorder. Newborns who inherit both genes are considered to
have a severe form of achondroplasia, where survival is usually less than 12 months after birth.

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Genetic Pedigree diagram

- Shows as inherited trait (characteristic) in a group of related individuals.

- E.g. Cystic fibrosis
 inherited disorder that mainly affects the respiratory, digestive and reproductive system.
 Caused by a recessive allele (f), so a person will only have the disorder if they’re homozygous for the
allele (ff) – they must inherit one recessive allele from each parent. If a person is heterozygous (Ff),
they won’t have CF but they will be a carrier.

- Albinism
 Is an inherited disorder caused by a recessive allele (a).
 Sufferers lack the pigment melanin in their skin, hair and eyes.

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