【摘要】 对人类基因组中的单核苷酸多态性进行快速而准确的定位和分型是人类基因组计划的重要内容。本文利用SNaPshot试剂盒 ,建立了一种以多重引物延伸为基础、可同时对多个已知单核苷酸多态性位点进行快速而准确的遗传分型的方法。利用这一方法检测了 2 0例大肠癌病人肿瘤组织中错配修复基因hMLH1和抑癌基因P5 3的 8个单核苷酸多态性位点 (包括 5个突变热点 ) ,其中一例发现错配修复基因hMLH1的 384位密码子处发生GTT→GAT的杂合性突变。对该基因外显子的直接测序结果与SNaPshot检测结果完全吻合 ,充分证明了该方法的可靠性。更多还原

【Abstract】 Accurate and fast genotyping of single nucleotide polymorphisms (SNPs) is of significant scientific importance in human genome project. Here a new automated fluorescent method that can rapidly and accurately genotype multiplex known SNPs was developed, which was achieved by substantially improving a commercially available protocol. By this method, mismatch repair gene hMLH1 and cancer repression gene P53 were investigated, eight known SNP spots (including five hot spots) of 20 coloerctal cancer patients′ hMLH1 and P53 gene were detected, and a heterozygosity mutation (GTT→GAT) at codon 384 of hMLH1 was found. Sequencing result of hMLH1 proves the reliability of this new method.更多还原