47个SNPs复合检测方法的建立及其法医学应用  

Establishment of 47-plex SNPs typing method and its application in forensic science

作　　者：刘超[1,2] 陈丽伟[2,3] 刘长晖[1] 李越[1] 李健伟[2] 张爱平[2] 葛璐璐[1] 

机构地区：[1]广州市刑事科学技术研究所,广东广州510030 [2]中山大学中山医学院法医学系,广东广州510080 [3]广州市公安局南沙分局,广东广州511457

出　　处：《中国法医学杂志》2009年第4期230-234,共5页Chinese Journal of Forensic Medicine

基　　金：国家十一.五科技支撑计划项目(2006BAK07B01);公安部重点科技攻关项目(20034421401)

摘　　要：目的建立47-p lex SNPs复合检测方法,评价其在法医学中的应用价值。方法筛选46个常染色体SNPs和1个Y-SNPs,使用2个检测体系分别对47个SNPs进行单管内复合PCR扩增,采用荧光标记单碱基延伸法和毛细管电泳检测技术进行分型检测;并用建立的方法对260份广东地区无关个体血样进行47个SNPs分型。结果建立的47-p lex SNPs的复合检测体系灵敏度高,种属特异性好;260名个体所有SNPs均能准确分型,群体内基因型频率分布均符合Hardy-W e inberg平衡,累积个人识别率大于0.999 9,累积非父排除率为0.999 82,累积偶合率为6.24×10-20。结论本文47-p lex SNPs复合检测方法能同时对47个SNPs进行快速、准确的检测,在法医学个体识别鉴定中具有良好的应用前景。Objective To establish a highly sensitive and reproducible and evaluate its application in forensic science. Methods Select 46 autosomal gosity and 1 SNPs site on the Y chromosome. Amplified all 47 DNA fragme 47-plex SNPs typing method, SNPs sites with high heterozynts in one PCR reaction, the pooled PCR products were purified, and then used as templates for two single base extension （SBE） with the SNaPshot Kit. The SBE products were detected by capillary electrophoresis after purification. Allele frequency data for 47 SNPs loci were obtained from a sample of 260 healthy unrelated individuals of Guangdong Province. Results All the sites can be typed clearly, the results of Hardy-Weinberg equilibrium test showed that the genotype distributions observed in those people were correspondent with the expected. The combined DP is more than 0.9999, the combined PE is 0. 99982 and the matching probability is 6.24 ×10^-20. Conclusion The established 47-SNPs typing system is efficient, high-throughput and it can be applied in forensic casework successfully.

关 键 词：法医物证学 单碱基延伸(SBE) 复合检测 单核苷酸多态性(SNPs) 

分 类 号：D919[医药卫生—法医学]