个体识别SNPs位点组合筛选与法医学应用价值初探

目的筛选用于包括中国主要民族在内的多个群体个体识别的SNPs位点组合体系。方法以Kidd实验室筛选的86个SNPs位点、欧洲SNPforID组织构建的52-plex SNPs复合检测体系为基础,收集和整理这些位点在HapMap数据库中11个人群的分型数据,计算各位点杂合度和Fst值,筛选杂合度〉0.4,Fst值〈0.06,并在研究人群中处于Hardy-Weinberg和连锁平衡的位点组合。针对这些位点,采用MassARRAY分子阵列技术对自行收集的8个人群（尼日利亚人、坦桑尼亚查加人、印度人、丹麦人、俄罗斯汉特人、中国汉族、藏族、维吾尔族）308份样本进行分型,统计群体遗传学参数。结果按本文标准共筛选出66个SNPs位点,均符合Hardy-Weinberg平衡,之间互不连锁,平均杂合度和Fst值分别为0.475、0.014。在本文收集的8个人群中的随机匹配概率在1.45E-24~4.72E-27之间,累积非父排除率为0.999 995 608~0.999 997 876之间。结论本文筛选的SNPs组合系统具有较强的个体识别能力,可用于本文调查的HapMap数据库中11个人群和本文收集的8个人群的个体识别鉴定。

Selection of a panel of individual identification SNPs and its application in forensic science

Objective To select and develop a panel of SNPs for individual identification which could be used for multiple populations,including Chinese major populations. Methods A set of SNPs was chosen from Kidd lab’s 86 individual identification SNPs and SNPforID 52-plex SNPs. Genotyping data of this set of SNPs from 11 populations in HapMap database were collected. According to heterozygosity ＆gt; 0. 4,Fst ＆lt; 0. 06,HardyWeinberg equilibrium and linkage equilibrium test,we selected a panel of individual identification SNPs from above set of SNPs. 308 samples from 8 different populations（ Nigerian,Tanzanian Chagga,Indian,Dane,Russian Khanty,Chinese Han,Tibetan,Uyghur） were genotyped by the Sequenom MassARRAYsystem. And population genetic parameters were calculated. Results We screened 66 SNPs in accordance with the previous criteria. The average heterozygosity and Fst value of the 66 SNPs were 0. 475 and 0. 014 respectively. The match probabilities ranged from 1. 45E-24 to 4. 72E-27. The cumulative probabilities of exclusion（ CPE） ranged from 0. 999 995 608 to 0. 999 997 876. Conclusion This panel of SNPs is efficient for forensic individual identification in 19 populations including 8 validated populations and 11 populations in HapMap database.