中国新疆锡伯族3个STR位点的遗传多态性研究

目的　通过对新疆伊犁地区锡伯族人群D1 6S5 3 9,D7S82 0 ,D1 3S3 1 7三个STR位点的基因型及等位片段频率分布的研究和数据统计分析 ,初步探讨其在遗传学研究及法医学应用中的意义。方法　随机抽取 1 1 0名新疆锡伯族无关个体静脉血 ,用柠檬酸钠抗凝冻存 ,采用全血基因组DNA纯化系统提取DNA ,并用复合PCR技术 ,同时扩增上述三个STR位点 ,聚丙烯酰胺凝胶垂直电泳分型 ,银染显色。结果　上述三个STR位点均符合Hardy Weinberg平衡定律。通过种族间比较 ,新疆锡伯族除D1 6S5 3 9位点与北京汉族人无差异 ,D7S82 0位点与西班牙人无差异外 ,其余位点与高加索人、美国黑人、西班牙人和北京汉族人均有明显差异。新疆锡伯族上述三位点累积排除概率为 0 90 76 ,多态性信息总量为 0 9876。D1 6S5 3 9、D7S82 0和D1 3S3 1 7三个位点杂合度分别为 0 90 2 8、0 8875和 0 92 86 ,所有位点杂合度均高于其他种族。结论　上述三个STR位点的综合检验可用于群体遗传学研究和法医学应用。

Study of genetic polymorphisms of three STR in Chinese Xibo population

Objective To get genotype and allele frenquency distributions of D16S539, D7S820, D13S317 loci in Chinese Xibo population in Yili area. Methods Natrium citrate-blood specimens were collected from the random Xibo individual in Xinjiang. The DNA samples were extracted with the Whole Blood Genomic DNA Purification System and were amplified by PCR technique. The PCR products were isolated by PAGE and were stained by silver nitrate.Results All the 3 loci(D16S539, D7S820, D13S317)met Hardy-Weinberg equilibrium. The combined chance of exclusion is 0.9076 and the polymorphism information content is 0.9876. The hetezygosities observed were 0.9028, 0.8875 and 0.9286 for D16S539, D7S820 and D13S317 respectively. The heterozygosities of the 3 loci are higher in Xibo nationality than that in other nationalities. There is no difference between Xibo in Xinjiang and Han in Beijing at D16S539, and between Xibo and Spanish at D7S820, while there were significant difference between Xibo and Caucasians or Spanish or American african or Han in Beijing at other loci.Conclusion The three STRs, used as genetic markers, were suitable for forensic indentification and population genetic study.