短串联重复基因座突变率的分析研究

Analysis of mutation in short taudem repeat

分析亲子鉴定案例进行中的STR基因座的突变率。采用chelex 100快速抽提DNA,DNA扩增,聚丙烯酰胺凝胶电泳、银染色法,参照标准品进行DNA分型。在300例已确定亲生关系的案例中,有11例出现STR基因座变异,其中D11S554基因座6例,D19S253基因座2例,SE33、D12S391、D13S631基因座各1例。结果提示:用STR基因座进行亲子鉴定,必须考虑STR基因座突变因素。

By analysing the 300 cases of paternity test in our lab in the recent year, we have demonstrated that mutation rates in STR loci are very high. The experimental steps include extracting DNA by chelex 100, amplification of DNA, polyacrylamide gel electrophoresis, silver staining, DNA typing by standard samples. The STR mutations in 11 cases among 300 paternity test cases were found, induding D11S554 locus6 cases, D19S253 locus2 cases, SE33 locuslcase, D12S391 locus 1 case, D13S631 locus 1 case. The results indicated that high mutation rates in STR loci should be considered when STR genotyping are applied to paternity test.