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目的:研究新疆维吾尔族人群19个X染色体短串联重复序列(X-STR)基因座和他们组成的7组连锁基因座的单倍型多样性,评价19个X-STR新组合位点的多态信息量和累积个体识别力。为群体遗传学和法医学的应用基础研究提供数据支持;并比较维吾尔族和11个民族在共有的X-STR基因座的遗传学差异。创新点:首次应用一个新的复合扩增检测体系,研究19个X-STR基因座新的组合(DXS8378、DXS7423、DXS10148、DXS10159、DXS10134、DXS7424、DXS10164、DXS10162、DXS7132、DXS10079、DXS6789、DXS101、DXS10103、DXS10101、HPRTB、DXS6809、DXS10075、DXS10074和DXS10135)在新疆维吾尔族的遗传多态性。方法:从233个新疆维吾尔族无关、健康个体的血痕中提取基因组DNA。应用一个新的复合扩增体系,同时对19个X-STR基因座进行扩增,用毛细管电泳进行基因扫描和分型。系统分析和评价这些X-STR基因座常用的各种法医学参数及应用价值;并对7组连锁的基因座组成的单倍型进行分析。基于分子方差分析的方法对新疆维吾尔族和其他11个民族共有的X-STR基因座进行比较研究,探寻这些群体在等位基因频率分布上的差异。结论:研究19个X-STR基因座共发现238个等位基因,相应的基因频率分布在0.0021~0.5644;女性累积个体识别力为0.999 999 999 999 999 999 998 091,男性为0.999 999 999 999 966,累积非父排除率为0.999 999 986 35。分子方差分析的结果显示新疆维吾尔族人群与格陵兰和索马里人群差异最大,有8个基因座存在差异;与马来西亚和关中汉族人群差异最小,仅3个基因座存在差异。结果表明:这19个X-STR基因座多态性高、且具有较高的累积个体识别力,可很好地应用于法医学及群体遗传学研究,也为新疆维吾尔族人群的遗传背景的研究提供基础资料。
OBJECTIVE: To study the haplotype diversity of 19 X-STR loci and their 7 linkage loci in Xinjiang Uygur population, and to evaluate the diversity of 19 new X-STR loci The amount of information and cumulative individual identification. Provide data support for applied basic research in population genetics and forensic science; and compare the genetic differences between Uighur and 11 ethnic groups at the shared X-STR locus. Innovations: A new multiplex amplification assay was developed for the first time to investigate a new combination of 19 X-STR loci (DXS8378, DXS7423, DXS10148, DXS10159, DXS10134, DXS7424, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103, DXS10101, HPRTB, DXS6809, DXS10075, DXS10074 and DXS10135) in Xinjiang Uygur nationality. Methods: Genomic DNA was extracted from bloodstains of 233 Xinjiang Uighur unrelated and healthy individuals. A new multiplexed amplification system was used to amplify 19 X-STR loci simultaneously and to perform gene scanning and typing by capillary electrophoresis. We systematically analyzed and evaluated various forensic parameters and their application values commonly used in these X-STR loci. The haplotypes of seven linked loci were analyzed. Based on the analysis of molecular variance (ANOVA), X-STR loci shared by Xinjiang Uygur and 11 other ethnic groups were compared to explore the difference in allele frequency distribution among these groups. CONCLUSIONS: A total of 238 alleles were found in 19 X-STR loci with corresponding gene frequency distributions ranging from 0.0021 to 0.5644. The cumulative individual identification of females was 0.999 999 999 999 999 999 998 091 and in males 0.999 999 999 999 966 , The cumulative non-parent exclusion rate was 0.999 999 986 35. The result of molecular variance analysis showed that the difference between Xinjiang Uygur population and Greenland and Somalia population was the largest, with 8 loci being the differences; the difference was the smallest between Malaysia and Guanzhong Han population, only 3 loci were different. The results showed that the 19 X-STR loci have high polymorphism and high cumulative individual discriminative power, which can be applied to forensic and population genetics research and genetic background of Uighur population in Xinjiang Provide basic information.