法医学杂志 ›› 2004, Vol. 0 ›› Issue (2): 81-84+8.

• 论文 • 上一篇    下一篇

HLA-DRB1基因分型芯片的法医物证学应用价值研究

李莉,李成涛,柳燕,李荣宇,康敏华,林源,阙庭志,李瑶   

  1. 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,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200063 ,上海200063 ,上海200063 ,上海200092 ,上海200092 ,上海200063 ,上海200063 ,上海200092
  • 发布日期:2004-04-25 出版日期:2004-04-28

Research on the application feasibility of HLA-DRB1 genotyping for forensic identification by oligonucleotide chip

LI LI, LI CHENG-TAO, LIU YAN, ET AL. (INSTITUTE OF FORENSIC SCIENCES, MINISTRY OF JUSTICE, P.R.CHINA, SHANGHAI 200063, CHINA)   

  • Online:2004-04-25 Published:2004-04-28

摘要: 目的对HLA-DRB1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HLA-DRB1基因座不同等位基因的独特序列设计探针,制成分型芯片。将待测样品DNA用末端标记了CY5的引物进行PCR扩增,产物与芯片进行杂交,根据杂交产生的荧光信号值确定样品在HLA-DRB1位点的基因型。将这一方法应用于561份样本的HLA-DRB1基因分型,根据基因型分布统计分析其法医学应用价值。同时,进行了家系调查和方法灵敏度分析,并应用于部分案例。结果利用微量检材,HLA-DRB1基因芯片可检测DRB1位点等位基因26个,基因型的分布符合Hardy-Weinberg平衡定律,该位点的观察杂合度(Ho)为0.888,期望杂合度(He)为0.902,多态信息含量(PIC)为0.893,平均非父排除率(PE)为0.801。家系调查和案例运用的结果表明,HLA-DRB1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HLA-DRB1为高度多态位点,其基因分型芯片可在亲子鉴定和个体识别中发挥重要作用。

关键词: HLA-DRB1, 基因型, 个体识别, 亲子鉴定

Abstract: Objective Research on the application feasibility of HLA-DRB1 genotyping for forensic identification by oligonucleotide chip. Methods Population studies on HLA-DRB1 was carried out in a sample of 561 unrelated Chinese Han individuals using oligonucleotide arrays for genotype detection. Meanwhile, we explored the feasibility of typing HLA-DRB1 by DNA chip for forensic identification. Results No significant deviations from Hardy-Weinberg equilibrium could be found. The Observed heterozygosity(Ho) was 0.888. The Expected heterozygosity(He) was 0.902. The Polymorphic information content (PIC) was 0.893. The Average exclusion probability (PE) was 0.801. Pedigree analysis showed no deviation from Mendel′s Law. Conclusion The data and results of pedigree analysis and case application demonstrated that HLA-DRB1 typing by oligonucleotide probe arrays was a useful technique for paternity testing and individual identification.

Key words: forensic science, DNA typing, HLA-DRB1, paternity testing, individual identification