法医学杂志

法医学杂志 ›› 2005, Vol. 0 ›› Issue (2): 90-95.

• 论文 • 上一篇    下一篇

31个SNP位点多重PCR扩增和芯片分型技术的建立及其法医学应用

李莉,李荣宇,李成涛,柳燕,林源,阙庭志,孙美倩,李瑶   

  1. 司法部司法鉴定科学技术研究所,上海博星基因芯片有限公司,司法部司法鉴定科学技术研究所,司法部司法鉴定科学技术研究所,司法部司法鉴定科学技术研究所,司法部司法鉴定科学技术研究所,上海博星基因芯片有限公司,上海博星基因芯片有限公司 上海200063 ,上海200092 ,上海200063 ,上海200063 ,上海200063 ,上海200063 ,上海200092 ,上海200092
  • 发布日期:2005-04-25 出版日期:2005-04-28

SNP Genotyping by Multiplex Amplification and Microarrays Assay and Forensic Application

LI LI1, LI RONG-YU2, LI CHENG-TAO1, ET AL. (1. INSTITUTE OF FORENSIC SCIENCES, MINISTRY OF JUSTICE, P.R.CHINA, SHANGHAI 200063, CHINA; 2.SHANGHAI BIOSTAR GENECHIP RESEARCH INSTITUTE, SHANGHAI 200092, CHINA)   

  • Online:2005-04-25 Published:2005-04-28

被引次数

21

摘要： 目的对SNP基因分型芯片在个体识别中的应用价值进行研究。方法根据SNP不同等位基因的序列设计探针,制成分型芯片。采用4个复合PCR体系,用末端标记了Cy5的引物进行复合PCR扩增,产物与寡核苷酸探针进行杂交,根据杂交产生的荧光信号值确定样品在各SNP位点的基因型。将这一方法应用于109份样本的分型,根据基因型分布统计分析31个SNP位点的法医学应用价值。同时,进行家系调查和方法灵敏度分析。结果方法的灵敏度为1ng;所检测的31个SNP位点的累积个体识别率为0.9999999999979(偶合率为2.13×10-12),二联体亲子鉴定中累积非父排除率为0.9609,三联体亲子鉴定中累积非父排除率为0.9970。家系调查的结果表明,这些位点等位基因由亲代向子代的传递符合孟德尔遗传定律。结论上述31个SNP位点为中高信息量位点,适用于法医学个体识别,可作为当前STR系统的补充。

关键词: SNP, 基因型, 个体识别, 亲子鉴定

Abstract: Objective Research on the application feasibility of SNP genotyping for forensic identification by microarrays. Methods Oligonucleotide microarrays which could detect 31 different SNPs were used. Population studies on 31 SNP loci was carried out in a sample of 109 unrelated Chinese Han individuals using oligonucleotide microarrays for genotype detection. The method was also applied to cases. Results No deviations from Hardy-Weinberg equilibrium could be found at the 31 SNP loci 4 loci were medium informative and 27 were high informative. The combination discrimination power (CDP) of the 31 optimal informative SNPs was 0.999 999 999 997 9. The matching probability was 2.13×10-12. The average exclusion probability in duos and trios were 0.960 9 and 0.997 0 respectively. Conclusion The data and case application demonstrated that SNP typing by oligonucleotide probe microarrays was a useful technique for paternity testing and individual identification.

Key words: forensic science, genotyping, SNP, microarray