Friday, October 08, 2010

More genes found.

I have reported that Drayna has found more genes, so here is the paper. Again, his team knows about this for at least a year I would guess. Can please any of my agents send me the full article? ,-)

[Autosomal recessive means that the disorder only occurs when both copies of the gene are mutated. A crash course on genetics from a non-geneticist: every gene has two copies (alleles): one from your mother and one from your real father (which might be different to your father, statistics claims more than 5%). If both copies are mutated (changed), which typically means the protein that the mutation is coded for is not functionally relevant for the body, the disorder breaks out. For some disorders, even if only one is mutated, the disorder breaks out and one talks about autosomal dominant.]
Hum Genet. 2010 Oct;128(4):461-3. Epub 2010 Aug 13.

Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.

Abstract

Stuttering is a common speech disorder with substantial genetic contributions. To better understand the genetic factors involved in stuttering, we performed a genome-wide linkage study in a newly-ascertained consanguineous stuttering family from Pakistan. A linkage scan in this family using parametric linkage analysis revealed significant linkage only on chromosome 3q13.2-3q13.33, with a maximum two-point LOD score of 4.23 under an autosomal recessive model of inheritance.

5 comments:

Olivier said...

I have already seen and read it. Is this all they found ?

Anonymous said...

The full article is a short report. Make sure what you have is numbered 461-463.

Anonymous said...

So what does it say for people like me who have no one in the family stuttering?

Ora said...

Anonymous wrote: "So what does it say for people like me who have no one in the family stuttering?"

You might want to take a look at some of Tom's earlier posts on this topic, which discuss this issue further. Take a look, for example, at http://thestutteringbrain.blogspot.com/2010/02/more-genes-found.html, and check out some of the links there.

Or more broadly, use the search box at the top left of the page to search for "genes" or similar terms to find other posts where Tom has discussed these issues.

Astrid H. Bjerga said...

What about this article in Science AAAS:
"First Gene Mutations Linked to Stuttering"
http://news.sciencemag.org/sciencenow/2010/02/10-03.html
Just a suggestion :)