Genotypes

[NoExcuses]

So thanks to Emily65Roses, I've been reading up on CF genotypes and learning a ton.

I found this from a link she posted that i think is fascinating:

Among the more than 15,000 cystic fibrosis patients in the United States genotyped through 1999, 52 percent are homozygous for delF508, and another 36 percent are compound heterozygotes having delF508 and another mutation (CF Foundation, 1999 Data Registry).

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm
">http://www.cdc.gov/genomics/gt...BR/CF/CFCliVal_24.htm
</a>
Thanks again Emily for educating me on this!

 

[Allie]

I secretly love mutation stuff, we had a thread on it long ago, and I dredged up all my info. W1282x is more common than deltaf508 in only one group, Ashkenazi Jews, I find that stuff fascinating

 

[NoExcuses]

On that note, Allie, I was at a speaking event at Chilren's Hospital Los Angeles this past weekend.

There was a middle Eastern couple whose sun was just diagnosed. They were baffled because they, and the docs, didn't know of many middle eastern people with CF. Even less common that Eastern Asian people.

I think they were Armenian...

 

[NoExcuses]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Allie</b></i>

I secretly love mutation stuff, we had a thread on it long ago, and I dredged up all my info. W1282x is more common than deltaf508 in only one group, Ashkenazi Jews, I find that stuff fascinating</end quote></div>

What did Rye have? Was he Ashkenazi Jew?

 

[Allie]

w1282x and deltaf508, common as dirt both ways lol. And yes, he was Ashkenazi Jew.

 

[Emily65Roses]

Just thought I'd pop in and pipe up to say you're very welcome, and I'm glad you find it interesting. <img src="i/expressions/face-icon-small-smile.gif" border="0">

I'm a secret mutation dork too. Shhhhhh.