摘要
目的调查研究50个Y-STR基因座在湖南汉族人群中的遗传多态性与突变情况。方法采用AGCU Y37、AGCU Y SUPP 2种复合扩增试剂盒对湖南汉族人群922名无关男性个体、985对父子对血样进行50个Y-STR基因座分型的检测,并计算群体遗传学参数与突变情况。结果本次调查共检出915种单倍型,其中7种出现2次。总体单倍型多样性和识别能力分别为0.999983513和0.9924。50个基因座共检出540个等位基因,基因多样性值在0.0951(DYS645)~0.9544(DYS385a/b)。985对父子在49239次等位基因传递中共观察到165对父子发生了179次突变,平均突变率为3.6×10^-3(95%CI 3.1~4.2×10^-3)。其中一步突变175次(97.8%),两步突变3次(1.7%),三步突变1次(0.6%)。结论本研究的50个Y-STR基因座中大多数在湖南汉族人群中具有较高的遗传多态性,适合法医学应用。高突变率基因座对于同一父系不同男性个体之间的区分,在法医学中也具有潜在的应用价值。
Objective To investigate the polymorphisms and mutations of 50 Y-STR loci in Han population of Hunan province. Methods Bloodstain samples of 922 unrelated male individuals and 985 father-son pairs in Hunan Han population were typed using AGCU Y37 and AGCU Y SUPP amplification Kits which contain 50 Y-STR loci. The parameters of population genetics and the mutation rates of each locus were analyzed statistically. Results A total of 915 haplotypes were found from 922 unrelated males, of which 908 were unique and 7 were repeated. The overall haplotype diversity and discrimination capacity were 0.999983513 and 0.9924 respectively. 540 alleles were observed at the 50 Y-STR loci. The value of gene diversity varied from 0.0951(DYS645) to 0.9544(DYS385 a/b). Among 49239 allele transfers 179 mutations were detected in 165 father-son pairs. The average mutation rate is 3.6×10^-3 per locus(95%CI 3.1~4.2×10^-3). 175 mutation events were one-step mutation(97.8%), three events were two-step mutation(1.7%), one event was three-steps(0.6%). Conclusion Most of the 50 Y-STR loci in this study are highly polymorphic in Hunan Han population, and are suitable for forensic application. The loci with high mutation rate have higher ability to distinguish related males of the same paternal line, so it has potential application value in forensic science.
作者
陈水琴
李琼
冯锐
赵杨
赵霖
付永
史明皓
张雷
王皋
尹坚英
Chen Shuiqin;Li Qiong;Feng Rui;Zhao Yang;Zhao Lin;Fu Yong;Shi Minghao;Zhang Lei;Wang Gao;Yin Jianying(Institute of F orensic Science, Hunan Provincial Public Security Bureau, Changsha 410000, China;Changsha Public Security Bureau, Changsha, 410008, China;AGCU ScienTech Incorporation, Wuxi 214174, China)
出处
《中国法医学杂志》
CSCD
2019年第5期454-458,共5页
Chinese Journal of Forensic Medicine
基金
湖南省社会发展领域重点研发项目(2017SK2171)
