36个X-STR基因座在汉族人群中的遗传多态性荟萃分析

A Meta-analysis of Genetic Polymorphisms in 36 X-STR Loci in Han Population

通过对选取的16篇文献中中国汉族群体的X-STR基因座相关参数(汉族群体来源包括广东、上海、云南、河南、北京、贵州、四川、海南、河北,检测试剂盒有Argus X12、Goldeneye 17X、AGCU X19、Microreader X19、Typer X19,等位基因频率大多基于百人份)进行荟萃分析,获取36个X-STR基因座(DXS6807、DXS9895、DXS10148、DXS10135、DXS8378、DXS9902、DXS6795、DXS6810、DXS10159、DXS10162、DXS10164、DXS7132、DXS10079、DXS10074、DXS10075、DXS981、DXS6800、DXS6803、DXS6809、DXS6789、DXS7424、DXS101、DXS7133、GATA172D05、GATA165B12、DXS10103、HPRTB、DXS10101、GATA31E08、DXS8377、DXS10134、DXS7423、DXS9907、DXS10146、DXS6797、DXS6804)在中国汉族人群中基于超1000个无关个体的等位基因频率,为涉及的X-STR亲缘关系鉴定似然率计算提供频率数据。通过荟萃分析发现16篇文献涉及汉族无关个体共8767人,36个X-STR基因座共572个等位基因,其中29个基因座的等位基因数目在基于超1000个无关个体计算后都有不同程度增加,DXS10135、DXS10134、DXS10148、DXS10079的等位基因数目增加均超5个。荟萃分析后获得的中国汉族群体36个X-STR基因座等位基因类型更齐全、等位基因频率更准确,可作为X-STR检验中计算亲缘关系似然率等参数的重要参考。

The aim of this study was to establish a comprehensive forensic reference for calculating likelihood ratios of different genetic relationships in the Chinese Han population.To achieve this,frequency parameters for 36 X-STR loci were determined.A notable limitation of previous literature reports was their reliance on small sample sizes,typically consisting of only 200-300 individuals.In contrast,our analysis incorporated data from over 1000 individuals sourced from 16 literature references,thereby ensuring a more robust and representative sample.The obtained allele frequency data for the 36 X-STR loci proved invaluable in forensic cases involving the Chinese Han population.This data was derived from an extensive collection of samples encompassing a total of 8767 unrelated individuals hailing from diverse regions such as Guangdong,Henan,Yunnan,Beijing,Guzhou,Sichuan,Hainan and Hebei.Gene frequency parameters were carefully selected from these 16 literature sources to accurately represent the Chinese Han population.Multiple kits including Argus X12,Goldeye 17X,AGCU X19,Microreader X19,and Typer X19 were employed during data collection to ensure comprehensive coverage and accuracy.Across the 36 loci analyzed(including DXS6807,DXS9895,DXS10148,DXS10135,DXS8378,DXS9902,DXS6795,DXS6810,DXS10159,DXS10162,DXS10164,DXS7132,DXS10079,DXS10074,DXS10075,DXS981,DXS6800,DXS6803,DXS6809,DXS6789,DXS7424,DXS101,DXS7133,GATA172D05,GATA165B12,DXS10103,HPRTB,DXS10101,GATA31E08,DXS8377,DXS10134,DXS7423,DXS9907,DXS10146,DXS6797,DXS6804),a total of 572 alleles were identifi ed with certain loci exhibiting notable increases in allele numbers such as DXS10135,DXS10134,DXS10148,and DXS10079,which indicated an increase by more than 5 alleles.To calculate allele frequencies across all 36 loci,a varying number(ranging from 1193 to 8767)of unrelated individuals were included in this study.DXS9895 and DXS6797 utilized a sample of 1193 unrelated individuals while HPRTB utilized 8767 unrelated individuals.This study signifi cantly contributes to improving the diversity and accuracy associated with the 36 X-STR allele types.Moreover,the findings of this study provide an essential reference for calculating likelihood ratios in X-STR kinship analysis,consequently enhancing the reliability and credibility of kinship determination within the Chinese Han population.