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目的 解决长期困扰短串联重复序列 (shorttandem repeat,STR)分型上存在的准确性和标准化问题。方法 先用 PCR扩增出 D12 S391基因座的 9个等位基因片段 ,将其插入 p UC重组质粒中 ,经DNA测序分析证实插入片段的结构及大小 ,用国际标准将插入的等位基因片段进行命名 ,最后经转染、扩大培养、扩增及再鉴定后 ,制备出标准的 D12 S391等位基因分型标准物。结果 应用此法制备出大量的D12 S391基因座等位基因分型标准物 ,并将其用于调查该基因座在德国 Mainz地区、日本 Miyazaki地区及中国成都汉族、北京汉族、新疆维吾尔族和甘肃回族 6个群体中的基因型分布频率。 D12 S391基因座在各群体中均有较高的多态性 ,其非父排除概率及个人识别能力分别为 0 .6 0 9～ 0 .786和 0 .940～ 0 .95 2。结论该法制备的 STR基因座等位基因分型标准物在法医科学实践中应用价值极高 ,D12 S391基因座是一个非常适合于群体遗传学研究和法医科学应用的遗传标记。
Objective To solve the problem of accuracy and standardization in long term puzzling short tandem repeat (STR) typing. Methods Nine alleles of D39 S391 locus were amplified by PCR and inserted into pUC recombinant plasmid. The structure and size of the inserted fragment were confirmed by DNA sequencing. The inserted allele fragment Were named, and finally transfected, expanded, expanded, and re-certified to prepare a standard D12 S391 allelic typing standards. Results A large number of allelic alleles of D12 S391 locus were prepared and used to investigate the loci of the locus in Mainz in Germany, Miyazaki in Japan, Han Chinese in Beijing, Han Chinese in Beijing, Uygur in Xinjiang and Gansu The frequency of genotype distribution in 6 Hui populations. The D12 S391 locus was highly polymorphic in all groups, and its non-parent exclusion probability and personal identification ability were 0.60 ~ 0.786 and 0.940 ~ 0.95 2, respectively. Conclusion The STR allele genotyping standard prepared by this method is of great value in forensic science practice. The D12 S391 locus is a genetic marker that is very suitable for population genetics and forensic science applications.