【作者】 黄艳梅； 杨保胜； 董献红； 王洁； 刘向阳； 杨柳；

【Author】 HUANG Yan-mei2, Yang Bao-Sheng1, DONG Xian-hong2, WANG Jie1, LIU Xiang-yang1, YANG Liu1 (1.Department of Forensic Biology in Xinxiang Medical University, Xinxiang 453003, China; 2. Department of Phsiology in Xinxiang Medical University, Xinxiang 453003, China.)

【机构】 新乡医学院生理学教研室； 新乡医学院法医物证学教研室；

【摘要】 目的研究河南汉族人群无关个体217例TNF-α基因启动子区的-238,-308,-850,-857,-863及TNF-β基因的+252共6个SNPs位点的遗传多态性,并探讨其在法医学中的应用价值。方法采用PCR-RFLP方法对TNF基因上6个SNPs位点进行分型。结果TNF基因6个SNPs位点等位基因和基因型在河南汉族人群中的分布均符合Hardy-Weinberg遗传平衡定律。各等位基因的最小频率5.8∽39.9%,其中TNF-α-857和TNF-β+252等位基因最小频率分别为39.9%和31.3%。6个SNPs位点组成的基因型在该群体中观察到57种类型,根据SHEsis软件推断出的单体型有25种类型,单体性多样性(HD)为0.894。结论TNF基因上6个SNPs位点及其组成的单体型在河南汉族人群中具有较高的多态性,可用于法医学实践,同时为人类遗传学的研究提供有用的资料。更多还原

【Abstract】 Objective Our aim is to study the single nucleotide polymorphisms of TNF gene in Henan Han population and its application in forensic medicine. Methods we investigated the allele and genotype of six SNPs including 5 sites at -238, -308, -850, -857, -863 on TNF-α gene and 1 site at +252 on TNF-β gene by using PCR-RFLP method. Results In Henan Han population, the distribution of allele of 6 SNPs was in Hardy-Weinberg Equilibrium. The minor allele frequencies of the six SNPs varied from 5.8 to 39.9%. Out of them, the minor frequency of TNF-α-857 and TNF-β+252 reached 39.9 %, 31.3 % respectively. Among 227 unrelated individuals, 175 genotypes of six SNPs were observed. 25 haplotypes were deduced by SHEsis Soft and the haplotype diversity was 0.894. Conclusions The six SNPs loci on TNF gene have highly polymorphism and will prove to be useful for forensic identifications and for population genetic studies.更多还原