Question

As you may have found, population-based patterns can be found in the genotypes of particular genes. We did this exercise on a harmless gene, but similar patterns can often be found in genes re¬lated to diseases. How could this be particularly useful information for the medical field?

Answer 1

In diseases, similar patterns of mutations in harmless genes may possibly be a cause or an effect of the disease. To investigate if it is a cause, it is worth looking into the proteins synthesized by the gene and whether it’s structure or functionality is affected by the pattern observed. It is also worth looking into the downstream effects possibly caused by the pattern in the gene. The gene may encode a non coding region which could affect post transcriptional splicing for example.