What is the TYR gene and its role?

The TYR gene codes for tyrosinase, an enzyme crucial for melanin production, affecting skin, eye, and hair colour.

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What condition is caused when a person is homozygous for the recessive allele of the TYR gene?

Two copies of the recessive allele of the TYR gene can lead to albinism, characterised by a lack of the tyrosinase enzyme and thus a lack of melanin.


Albinism also often results in poor vision, rapid eye movements, and light sensitivity due to the lack of melanin.

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How does the HBB gene relate to sickle cell anaemia?

The HBB gene codes for the β-globin polypeptide in haemoglobin. 


Mutations in this gene can cause sickle cell anaemia.

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How can a mutation in the HBB gene affect red blood cells?

A mutation in the HBB gene can result in a less soluble form of haemoglobin being produced. The molecules group together in red blood cells forming long fibres, distorting red blood cells into a sickle shape and impairing oxygen transport.


A person with one copy of the sickle cell allele will have some normal haemoglobin and some sickle cell haemoglobin.

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What is the F8 gene responsible for?

The F8 gene codes for coagulation factor VIII, which is essential for normal blood clotting.

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What can a faulty version of the F8 gene lead to?

Mutations in the F8 gene can lead to abnormal versions of the factor VIII protein being produced, so blood does not clot normally, causing excessive bleeding.


This disorder is called haemophilia.

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What is the role of the HTT gene, and what can a faulty version of this gene lead to?

The HTT gene codes for the huntingtin protein, which is involved in neurone development.


Huntington's disease is caused by mutations with excessive CAG repeats in the HTT gene.

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What is the inheritance risk for Huntington's disease if one parent carries the faulty allele, and why?

There is a 50% chance of inheriting Huntington's disease if one parent carries the faulty allele.


This is because the faulty allele is dominant, so even if only one copy is inherited the person will develop Huntington's disease.

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What is the role of the Le gene in plants like pea plants?

The Le gene affects the height of pea plants through the production of gibberellin.

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What is the effect of the dominant Le allele and recessive le allele in pea plants?

The dominant Le allele in pea plants leads to tall growth by regulating gibberellin synthesis.


Plants that are homozygous for the recessive le allele produce a non-functional enzyme so do not produce the active form of gibberellin. This means that they remain short.

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What is the relationship between genes and phenotype?

Genes code for proteins that can influence an organism's phenotype, their physical traits.

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