Podcast
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?
Achondroplasia is caused by a mutation in which receptor?
Achondroplasia is caused by a mutation in which receptor?
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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Description
Explore the different types of mutations and their impact on protein synthesis. This quiz also covers specific genetic conditions linked to single gene mutations, such as Huntington's Disease and Cystic Fibrosis. Test your knowledge on how mutations affect health and development.
