二代测序试剂盒SNP位点遗传学参数和对比  

Genetic Parameters of SNP Loci in Next Generation Sequencing Kits and Their Comparison

作　　者：周密 张科[2] 汪军 ZHOU Mi;ZHANG Ke;WANG Jun(Wuhu Public Security Bureau,Wuhu 241000,China;Management Office of Physical Evidence,Department of Public Security of Anhui Province,Hefei 230061,China;School of Computer ＆ Information Science,Anhui Polytechnic University,Wuhu 241000,China)

机构地区：[1]芜湖市公安局,安徽芜湖241000 [2]安徽省公安厅物证鉴定管理处,安徽合肥230061 [3]安徽工程大学计算机与信息学院,安徽芜湖241000

出　　处：《法医学杂志》2018年第3期242-247,共6页Journal of Forensic Medicine

基　　金：安徽省科技强警资助项目(1604d0802002)

摘　　要：目的计算二代测序试剂盒SNP位点的遗传学参数,与STR基因座进行对比,以建立SNP和STR的系统效能换算比例。方法对二代测序试剂盒(Foren Seq^(TM)DNA Signature Prep试剂盒和Precision ID Identity Panel试剂盒)共101个SNP位点进行Hardy-Weinberg平衡检验,计算SNP位点在个体识别、标准三联体鉴定、二联体鉴定及双亲皆疑鉴定中的各项系统效能参数,并与STR基因座进行对比。结果除无基因型频率数据的2个位点外,99个SNP位点符合Hardy-Weinberg平衡检验(P>0.05)。Foren Seq^(TM)DNA Signature Prep试剂盒94个SNP位点的累积个体识别率(cumulative discrimination power,CDP)为1-1.152 1×10^(-34),累积三联体非父排除率(cumulative probability of exclusion in trios,CPE_(trio))为1-4.416 9×10^(-8),累积二联体非父排除率(cumulative probability of exclusion in duos,CPE_(duo))为1-8.483 7×10^(-5),双亲皆疑累积排除率(cumulative probability of exclusion in alleged parents cases,CPE_(AP))为1-1.222 7×10^(-12)。Precision ID Identity Panel试剂盒90个SNP位点的CDP为1-2.052 4×10^(-33),CPE_(trio)为1-8.709 3×10^(-8),CPE_(duo)为1-1.1638×10^(-4),CPE_(AP)为1-3.725 7×10^(-12)。在个体识别、标准三联体鉴定、二联体鉴定、双亲皆疑鉴定中,分别平均有2.85、4.51、4.88、4.55个SNP位点等于1个STR基因座的系统效能。结论二代测序试剂盒SNP位点的系统效能较高,多个SNP位点联合可应用于法庭科学中的个体识别和亲子鉴定。Objective To calculate genetic parameters of SNP loci in next generation sequencing kits,and to compare them with STR loci for establishing the conversion ratio between SNP and STR system effectiveness.Methods Hardy-Weinberg equilibrium tests were performed in 101 SNP loci of next generation sequencing kits（Foren Seq^TM DNA Signature Prep kit and Precision ID Identity Panel kit）.The parameters of system effectiveness of SNP loci in the cases of personal identification,trios,duos,and alleged parents were calculated,which were compared with the genetic parameters of STR loci.Results Except 2 loci without the data of genotype frequency,other 99 SNP loci conformed to Hardy-Weinberg equilibrium tests（P〉0.05）.In Foren Seq^TMDNA Signature Prep kit,the CDP of 94 SNP loci was 1-1.152 1×10^-34,CPEtriowas 1-4.416 9×10^-8,CPEduowas 1-8.483 7×10^-5,and CPEAP was 1-1.222 7×10^-12.In Precision IDIdentity kit,the CDP was 1-2.052 4×10^-33,CPEtriowas 1-8.709 3×10^-8,CPEduowas 1-1.163 8×10^-4,and CPEAP was 1-3.725 7×10^-12.In the cases of personal identification,trios,duos and alleged parents,the system effectiveness of 2.85,4.51,4.88 and 4.55 SNP loci was equal to that of 1 STR locus,respectively.Conclusion With high system effectiveness of SNP loci,the next generation sequencing kits is suitable for personal identification and paternity testing in forensic science.

关 键 词：法医遗传学 多态性 单核苷酸 亲子关系 二代测序 个体识别 

分 类 号：DF795.2[医药卫生—法医学]