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MOLECULAR DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS
MOLECULAR DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS
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机译:家族性腺癌的分子诊断
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摘要
A two-pronged method for diagnosis of genetic diseases can detect mutations in about 87% of familial adenomatous polyposis (FAP) patients. One part of the diagnostic method employs in vitro protein synthesis from surrogate genes created by amplifying either cDNA or genomic DNA. The second part of the diagnostic method employs an allele-specific expression assay which distinguishes the amount of mRNA expressed in vivo from each of a patient's two alleles. These approaches are readily applicable to the diagnosis of other genetic diseases.
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