In the patient with familial adenomatous polyposis coli (175100) you identified

Question

In the patient with familial adenomatous polyposis coli (175100) you identified a base substitution mutation in the ORF. In the wild type allele there in there is a C at position 904 within the gene and in the mutant allele there is a T at position 904. The mutation results in a change in amino acid sequence in the corresponding protein from an arginine to a premature termination codon.

What experimental technique would you have used to identify this base substitution?

Please describe this base substitution as follows:

Transition vs. transversion _____________

Missense, Nonsense, Silent ______________

Explanation / Answer

The base substitution can be identified using genetic sequencing. Illumina sequencing would work well in this situation.

The mutation is a transition mutation as the base remains a pyrimidine.

The mutation is a nonsense mutation as it results in chain termination.

Related Questions

Navigate

• Browse (All)
• Browse I
• Subjects

Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.