两个STR基因座遗传多态性探究.docVIP

两个STR基因座遗传多态性探究 　 作者：陈庆，白洁，赵伟，刘华，崔曙，唐铁龙 【摘要】 目的: 了解中国成都地区汉族人群D10S2477和GATA170E02这2个短串联重复序列(STR) 基因座的等位基因片段结构特征, 获得中国成都地区汉族和泰国曼谷地区泰国人群体的遗传学数据, 并分析其在骨髓移植和法医学中的应用价值. 方法： 收集成都地区汉族和泰国曼谷地区泰国人无血缘关系个体的EDTA 抗凝血, Chelex100 法提取DNA. 采用PCR 扩增、非变性聚丙烯酰胺凝胶电泳、银染及测序技术分析D10S2477和GATA170E02基因座的遗传多态性, 获得5个基因座的群体遗传学数据. 结果： D10S2477在中国成都地区汉族有9个等位基因，23种基因型，个人识别率为0.933，而泰国曼谷地区泰国人有8个等位基因，26种基因型，个人识别率为0.947；GATA170E02在中国成都地区汉族有5个等位基因，10种基因型，个人识别率为0.842，泰国曼谷地区泰国人有5个等位基因，11种基因型，个人识别率为0.873. 经统计学分析, 各基因座基因型分布规律均符合Hardy Weinberg 平衡定律. 结论： D10S2477和GATA170E02 基因座的个人识别能力较高, 可用于中国汉族人群和泰国曼谷地区泰国人群的骨髓移植及法医学中个人识别和亲子鉴定, 并为人类群体遗传学研究提供可靠的数据. 【关键词】 短串联重复序列；聚合酶链反应；遗传多态性 　　【Abstract】 AIM: To obtain the population genetic data of short tandem repeat(STR) loci(D10S2477, GATA170E02) and study the difference of allelic frequency distributions in different populations. METHODS: Venous blood samples of 400 unrelated individuals from 2 populations (Han, Thai) were studied using single PCR followed by polyacrylamide gel electrophoresis and silver staining. RESULTS: Nine alleles, 23 kinds of genes were observed for D10S2477 in the Chinese Han, and the individual identification rate was 0.933, while the Thai had 8 alleles, 26 kinds of genes, and the individual identification rate was 0.947; Five alleles, 10 kinds of genes were observed for GATA170E02 in the Chinese Han, and the individual identification rate was 0.842, while the Thai had 5 alleles, 11 kinds of genes, and the individual identification rate was 0.873. The statistics analysis proved that the genotype distribution rule of the genes conformed to the Hardy Weinberg balanced law. CONCLUSION: D10S2477 and GATA170E02 genes are easy to perform and sensitive. The discrimination power and exclusion chances of these two loci are desirable for forensic analysis and genetic study. 　　【Keywords】 short tandem repeat; PCR; genetic polymorphism 　　0 引言 　　人类短串联重复序列（short tandem repeats,STR）是由2～6 bp 的重复单位构成的微卫星DNA位点，是继限制性片段长度多态性（RFLPs）之后的第二代遗传学标记，广泛应用于反映骨髓移植前供、受体之间组织相容