Search for content in message boards

Deafness and DNA

Replies: 11
Posted: 1370465540000
Classification: Query
Hi Dr. Turner,

A few weeks ago, we discussed the Waardenburg Syndrome gene and how I could figure out which grandparent I got the gene from.

The Gedmatch website has an utility where you can do a search for Rare SNP (Minor Allele) in your DNA. I did that for all genes that cause Waardenburg Syndrome for myself and my grandparents which yielded interesting, yet confusing, results. It appears that I got a copy of the MITF gene from each grandparent. It also appears that I have the PAX3 gene as well, which I got from my grandfather. I was wondering if you could help further explain these results?

Myself (Kit No. A524104):

RSID, Chr, Position (B36), Genotype, %Occurrence, Gene

rs7623486, 3, 69991784, GG (both GG are mutations), 18.0446, MITF

rs1367370, 3, 69970346, aG (G is a mutation), 18.8722, MITF

rs4855447, 3, 69886018, Ag (A is a mutation), 19.6193, MITF

rs16863671, 2, 222942248, aG (G is a mutation), 11.2148, PAX3

The SNAI2 gene is absent
The SOX10 gene is absent

My grandfather (Kit No. A275138):

rs4855447, 3, 69886018, Ag (A is a mutation), 19.6193, MITF (my grandfather and I match on this one)

rs16863671, 2, 222942248, aG (G is a mutation), 11.2148, PAX3 (we also match here)

The SNAI2 gene is absent.

My grandmother (Kit No. A327547):

rs7623486, 3, 69991784, GG (both GG are mutations), 18.0446, MITF (my grandmother and I match on this one)

rs1367370, 3, 69970346, GG (both GG are mutations), 18.8722, MITF

rs4855447, 3, 69886018, AA (both AA are mutations), 19.6193, MITF

rs11774894, 8, 49995830, Ag (A is a mutation), 4.46515 SNAI2

The PAX3 gene is absent

Thank you!

Jason
SubjectAuthorDate Posted
Jason Nichola... 1366045349000 
APTurner 1366050029000 
Jason Nichola... 1366050634000 
APTurner 1366061402000 
Jason Nichola... 1366123997000 
APTurner 1366131133000 
Jason Nichola... 1370465540000 
APTurner 1370488601000 
Jason Nichola... 1370835610000 
APTurner 1370995229000 
per page

Find a board about a specific topic