my mutations...

[blindhearted]

Okay originally I thought I was a Double Delta F508...I could have swore on my life that is what the FNP told me....good thing it didnt come down to that cause I was wrong. Well, too make a long story short....something wasnt adding up when I found my mom's CF test, so I emailed the FNP to verify the results. And come to find out I am DELTA F508/G542X (I've noticed on the site that there are a couple of people with this combo). Okay now the question....what does "The polyT allele genotype is: 9T/9T" mean?

 

[JazzysMom]

Beats the air of me....dont know....NEXT?

 

[anonymous]

Hi,

I dont know, but you can be now interested in new drug development ( PTC 124) in 2-3 Phase of clinical testing - for CF people with one or both "nonsense" mutations. This drug can restore wrong CF allele with nonsense mutation (those with X at the End). And the "restored" allene can work a little bit better...
You can find info here...
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/research/clinical_trials/ongoing_trials/protein_rescue_ion_transport/#PTC124">PTC 124 clinical test</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.clinicaltrials.gov/ct/show/NCT00234663?order=2">PTC 124 recruiting patients</a>

GOOD LUCK

Jonh81john