Search for content in message boards

Deafness and DNA

Replies: 11

Re: Deafness

Posted: 1366131133000
Classification: Query
You'll be able to use David Pike's utility to identify regions where you share DNA with your relatives

http://www.math.mun.ca/~dapike/FF23utils/pair-comp.php

You will share quite a few regions with your grandparents, so this will be just a screening test to see if the results are *compatible* with the MITF hypothesis. If you test further relatives, the more distant ones will help narrow things down the most.

At a certain point, you may want to do "exome sequencing." The exome is just the small portion of your DNA (less than 2%) that codes for proteins. Sequencing (as opposed to scanning for particular rather common variants) can pick up mutations that have never been observed before. I can't post links to commercial websites, but there are some where you don't need a doctor's order.

Another alternative is to meet with a genetic counselor, who can advise you if there are clinical labs that will sequence just the MITF gene (or another plausible candidate) or research programs that might be interested in your family. If you haven't seen it already, this website has lots of links:

http://ghr.nlm.nih.gov/condition/waardenburg-syndrome
SubjectAuthorDate Posted
Jason Nichola... 1366045349000 
Ann Turner 1366050029000 
Jason Nichola... 1366050634000 
Ann Turner 1366061402000 
Jason Nichola... 1366123997000 
Ann Turner 1366131133000 
Jason Nichola... 1370465540000 
Ann Turner 1370488601000 
Jason Nichola... 1370835610000 
Ann Turner 1370995229000 
per page

Find a board about a specific topic