The coding region for GENE X is a total of 700 base pairs in length. An alternat

Question

The coding region for GENE X is a total of 700 base pairs in length. An alternate allele of this gene has been identified, which has a deletion of 100 base pairs within this coding
region. The wild-type allele is designated as X1 and the allele containing the deletion is designated as X2 .
a) Does a deletion mutation within the coding region mean that the protein produced from this gene will no longer be functional?
b) Suggest and describe ONE possible way in which this deletion mutation may have occurred.
c) You wish to study a population of individuals to determine which combination of alleles of GENE X they possess. Using molecular biology techniques, describe how you can carry out an assay to determine the genotype of each individual. In your answer include figures to illustrate the results you would expect to achieve for individuals of different genotypes.

Explanation / Answer

a. A deletion mutation within the coding region means that the protein produced from this gene will no longer be functional as the coding region of the gene produces the protein.

b. When a wrinkle is formed on the template DNA strand a nucleotide to be omitted during replication leading to a deletion mutation.

c. The SNP genotyping is an assay that can be used to find the genotype of each individual.

The workflow for this assay is:

Preparation of sample

Amplification of DNA

Allelic discrimination

Analyzing of data

Preparation of sample

Amplification of DNA

Allelic discrimination

Analyzing of data

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