Question

You’ve discovered a new gene that you think is mutated in muscular dystrophy. Describe the methods that you could use to gain further insight into (a) whether the family you’re studying carries a specific mutation and (b) whether the protein is actually expressed in muscle.

Answer 1

a) In order to check the presence of the discovered gene mutation in the family under study, The DNA samples can be collected from the family members and isolate the gene of interest, and sequencing of the gene to determine the presence of mutations by comparing with non-diseased sample. The single base pair alterations can easily be detected in this method.

b) In order to know the gene expression in muscle the RNA sample can be collected from the muscle tissue and the C-DNA copies are reverse transcribed and the C-DNA checked for the presence of the sequence of the specific gene understudy. This can be carried by affinity or PCR based methods. If the gene is expressed in muscle tissue then it will be transcribed into mRNA.