The trinucleotide repeats are resposible for Huntington's disease and fragile X syndrome. Huntington's : normal-less than 27 'CAG' repeats disorder-more than 39 'CAG' repeats. fragile X syndrome : normal- 21 to 31 'CGG' repeats, disorder- more than 200 'CGG'. Anybody can tell me which instrument(next-generation equipment) is best for this specific gene test?
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Originally posted by junchen View PostThe trinucleotide repeats are resposible for Huntington's disease and fragile X syndrome. Huntington's : normal-less than 27 'CAG' repeats disorder-more than 39 'CAG' repeats. fragile X syndrome : normal- 21 to 31 'CGG' repeats, disorder- more than 200 'CGG'. Anybody can tell me which instrument(next-generation equipment) is best for this specific gene test?
As for PCR being more useful, I think it depends on your number of samples and application. If it's just for diagnostics, PCR should be sufficient.
If it's for a larger study where you want the precise number of trinucleotide repeats in a large number of samples, a 454 approach might be more effective.Mendelian Disorder: A blogshare of random useful information for general public consumption. [Blog]
Breakway: A Program to Identify Structural Variations in Genomic Data [Website] [Forum Post]
Projects: U87MG whole genome sequence [Website] [Paper]
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