MOLECULAR DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS

摘要

A two-pronged method for diagnosisof genetic diseases can detect mutationsin about 87 % of familial adenomatouspolyposis (FAP) patients. One part of thediagnosis method employs in vitro proteinsynthesis from surrogate genes created byamplifying either cDNA or genomic DNA.The second part of the diagnostic methodemploys an allele-specific expression assaywhich distinguishes the amount of mRNAexpressed in vivo from each of a patient'stwo alleles. These approaches are readilyapplicable to the diagnosis of other geneticdiseases.