Examples of Mutations Flashcards

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1
Q

Sickle cell anaemia

A

Caused by an autosomal recessive missense mutation in the beta-globin gene

  • A to T resulting in a Glu to Val change
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2
Q

Phenylketonuria

A

Caused by a missense mutation in the phenylalanine hydroxylase gene
- C to T results in Arg to Trp change in protein
- Autosomal recessive trait - wild-type is haplosufficient

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3
Q

Pelizaeus-Merzbacher-like disease

A
  • Caused by autosomal recessive nonsense mutation in gap junction protein
  • C to T change resulting in Arg to Stop codon change
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4
Q

Beta-thalassaemia

A

Frameshift mutation due to deletion of AA

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5
Q

Cystic Fibrosis

A
  • Caused by a 3 base deletion in the CFTR gene
  • Results in loss of a Phe residue from the protein - autosomal recessive
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6
Q

BRCA1 & Breast Cancer

A

A rare variant in BRCA1 gene results in over 80% lifetime risk / penetrance of breast cancer
- Dominant mutation - wild-type is haploinsufficient

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