Hi
I have a challenge with a somatic mutation in the beta cells. I think I know the disease-causing gene GCK due to the histological picture, but how can detect the mutation?. I have tried to use LCM and purify RNA from the islets but this is difficult on FFPE tissue and it requires a lot of islets and the yield is small and unstable. I think that only some of the islets are hyper-functional concerning the GCK mutation.
Hi Annette Larsen
if the mutation is a somatic mutation you can detect it directly by screening the DNA, better in your case with FFPE samples.
just use the UCSC database to site the variant and design primers to do it
(http://genome-euro.ucsc.edu/cgi-bin/hgTracks?db=hg19&lastVirtModeType=default&lastVirtModeExtraState=&virtModeType=default&virtMode=0&nonVirtPosition=&position=chr7%3A44183870%2D44198887&hgsid=285358879_8vUziD67M2NCeLKDOZKJCoEKAhfK)
. if the variant is well known, a simple research in google will give you sequences for primers.
all the best
fred
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