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Questions and Answers
What type of mutation results in the formation of a 'STOP' codon, truncating the amino acid sequence?
What type of mutation results in the formation of a 'STOP' codon, truncating the amino acid sequence?
- Truncating mutation (correct)
- Single change to encoded amino acid sequence
- No change to encoded amino acid sequence
- Change in codon formation
Which of the following diseases is caused by a mutation in the Huntington Gene?
Which of the following diseases is caused by a mutation in the Huntington Gene?
- Huntington's Disease (correct)
- Sickle Cell Anemia
- Achondroplasia
- Cystic Fibrosis
Cystic Fibrosis is associated with mutations in which gene?
Cystic Fibrosis is associated with mutations in which gene?
- FGFR3
- HTT
- SLC26A4
- CFTR (correct)
What type of mutation involves a single change in the amino acid sequence?
What type of mutation involves a single change in the amino acid sequence?
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Achondroplasia is caused by a mutation in which receptor?
Achondroplasia is caused by a mutation in which receptor?
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Study Notes
Types of Mutations
- Mutations can lead to no change in the amino acid sequence encoded by a gene.
- Mutations can lead to a single change in the amino acid sequence encoded by a gene.
- Mutations can lead to a translational 'STOP' codon, resulting in a truncated amino acid sequence.
- Mutations can lead to changes in encoded amino acid sequences at the point of mutation, causing the formation of different codons.
Single Gene Change and Medical Conditions
- Huntington's Disease is caused by a mutation in the Huntington gene [HTT].
- Cystic Fibrosis is caused by mutations in both copies of the CF Transmembrane Conductance Regulator [CFTR] gene.
- Achondroplasia is caused by a mutation in the Fibroblast Growth Factor Receptor 3 [FGFR3] gene.
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