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Useful study for clinical molecular genetics labs

Posted by Heather on 21 Jun 2007 at 10:08 GMT

Thanks to the painstaking comparisons of these authors, some weeding out of old techniques that have persisted in labs processing a lot of DNA from diverse sources will occur.

In particular, the non-necessity of deparaffination of sections will come as a surprise in our hospital. As will the superiority of yield of silica-based versus organic phase extraction methods.

I was particularly encouraged by the fortuitous recovery of RNA in addition to PCR-amplifiable DNA using a silica-based kit. For old patient samples, sometimes from deceased individuals, it is important to recover RNA for reverse transcription in order to verify the effect of a putative mutation leading to the absence of a canonical splice site, or a missense mutation that might lead to premature degradation. This gives us new hope for validation of hypotheses and the mechanisms by which genome mutations become clinically relevant.

I will be sending this article to everyone I can think of. Bravo!

RE: Useful study for clinical molecular genetics labs

tommyGgood replied to Heather on 24 Jun 2007 at 11:34 GMT

Thanks for your very kind review. Just a quick note that we probably didn't make enough of in the paper. The silica method worked great for RNA, but only if there are no RNAses in the silica kit! We only tried with a Qiagen DNA kit, and although that worked great other kits may be less RNAse-free. So its worth testing out any kits you might want to use first.
Tom