Detection of MSH2 gene mutation by PCR / 中南大学学报(医学版)

ABSTRACT

OBJECTIVE@#To establish a genetic diagnosis method for a novel MSH2 mutation.@*METHODS@#A specific primer on the mutated site of MSH2 was synthesized and PCR was conducted using the specific primer and another downstream primer. PCR products were electrophoresed and then the carriers with the novel gene mutation of the carriers or non-carriers were identified.@*RESULTS@#MSH2 in a hereditary nonpolyposis colorectal cancer family were successfully found.@*CONCLUSION@#The method is effective and simple for genetic diagnosis of the novel mutation in MSH2.