论文部分内容阅读
AIM:To explore the germline mutations of the two mainDNA mismatch repair genes (hMSH2and hMLH1) betweenpatients with hereditary non-polyposis colorectal cancer(HNPCC) and suspected (atypical) HNPCC.METHODS:Genomic DNA was extracted from the peripheralblood of the index patient of each family,and germlinemutations of hMSH2 and hMLH1 genes were detected byPCR-single strand conformation polymorphism (PCR-SSCP)and DNA sequencing techniques.RESULTS:For PCR-SSCP analysis,67% (4/6) abnormal exonsmobility in typical group and 33% (2/6) abnormal exonsmobility in atypical group were recognized.In direct DNAsequencing,50% (3/6) mutation of MMR genes in typicalgroup and 33% (2/6) mutation of MMR genes in atypicalgroup were found,and 4/6 (66.67%) and 1/6 (16.67%)mutations of hMSH2 and hMLH1 were identified in typicalHNPCC and atypical HNPCC,respectively.CONCLUSION:Mutation detection of the patients is ofbenefit to the analysis of HNPCC and,PCR-SSCP is aneffective strategy to detect the mutations of HNPCCequivalent to direct DNA sequence.It seems that there existmore complicated genetic alterations in Chinese HNPCCpatients than in Western countries.
AIM: To explore the germline mutations of the two main DNA mismatch repair genes (hMSH2 and hMLH1) between patients with hereditary non-polyposis colorectal cancer (HNPCC) and suspected (atypical) HNPCC. METHODS: Genomic DNA was extracted from the peripheral blood of the index patient of each family, and germlinemutations of hMSH2 and hMLH1 genes were detected by PCR-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. RESULTS: For PCR-SSCP analysis, 67% (4/6) % (2/6) mutation of MMR genes in atypical group were found, and 4% (2/6) / 6 (66.67%) and 1/6 (16.67%) mutations of hMSH2 and hMLH1 were identified in typical HNPCC and atypical HNPCC, respectively.CONCLUSION: Mutation detection of the patient is of benefit to the analysis of HNPCC and, PCR-SSCP is aneffective strategy to detect the mutations of HNPCCequivalent to direct DNA sequence. It seems that there existmore complicated genetic alterations in Chinese HNPCCpatients than in Western countries.