Question

Analysis of sequence data from a patient with a disorder believed to have a genetic basis reveals an amino acid substitution in a gene that has never been seen before. It is classified as a variant of unknown significance. What might be done to determine whether this variant is indeed pathogenic and responsible for the condition? Assume that the child is the only affected member of the family, and both parents are in good health, unaffected with the condition in the child.

Answer 1

1. Repeat the DNA sequencing, i might be possible due to sequencing error.

2. If found true, then ORF must be analysed for analysis of altered codon.

3. do the possible Protein structure prediction for the analysis of functions (pathogenesis etc).

4. If the function of this gene changed, then Perform the mRNA expression analysis.

5.