中国北方汉族群体TPH2基因5′和3′端SNP位点遗传多态性  

Genetic Polymorphisms of SNP Loci in the 5′ and 3′ Region of TPH2 Gene in Northern Chinese Han Population

作　　者：徐晓明[1] 丁梅[1] 庞灏[1] 邢佳鑫[1] 宣金锋[1] 王保捷[1] 

机构地区：[1]中国医科大学法医学院,辽宁沈阳110001

出　　处：《法医学杂志》2013年第1期21-24,共4页Journal of Forensic Medicine

摘　　要：目的调查中国北方汉族群体TPH2基因5′和3′端SNP位点遗传多态性并探讨其法医学应用价值。方法测序分析244例中国北方健康无关个体TPH2基因5′端905 bp和3′端1 104 bp两个靶片段的序列特征和6个SNP位点(rs4570625、rs11178997、rs11178998、rs41317118、rs17110747和rs41317114)的遗传多态性,应用Haploview v4.2软件进行统计分析。结果 244例中国北方汉族个体6个SNP位点基因型分布均符合Hardy-Weinberg平衡定律,在92922位点检测到1例C/T变异,TPH2基因5′端3个SNP位点(rs4570625、rs11178997和rs11178998)和3′端3个SNP位点(rs41317118、rs17110747和rs41317114)分别显示出高度连锁不平衡,获得了TPH2基因6个SNP位点的群体遗传学参数。结论中国北方汉族群体TPH2基因5′和3′端序列呈现出高度遗传多态性,可作为相关疾病关联分析的遗传学指标,同时可用于个体识别和亲权鉴定。Objective To investigate the genetic polymorphism in the 5＇ and 3＇ region of TPH2 gene of Northern Chinese Han population and to explore its application value in forensic medicine. Methods The sequence variants and the genetic polymorphisms of 6 SNP loci （rs4570625, rs11178997, rs11178998, rs41317118, rs17110747 and rs41317114） within a 905bp 5＇ flanking region and a 1 104bp 3＇ flanking region of TPH2 gene were analyzed by DNA sequencing in a total of 244 unrelated healthy individuals in Northern Chinese Han population. The statistical analysis was carried out by Haploview v4.2 soft-ware. Results The genotypic distributions of the 6 SNP loci in the TPH2 gene were in accordance with Hardy- Weinberg equilibrium. One C/T variant in 92922 site was found. There was a high linkage disequilibri- um among the 3 SNP loci （rs4570625, rs11178997 and rs11178998） in the 5＇ region and the 3 SNP loci （rs41317118, rs17110747 and rs41317114） in the 3＇ region of TPH2 gene, respectively. The parameters of population genetics of 6 SNP loci were obtained. Conclusion There are great polymorphisms in the 5＇ and 3＇ region of TPH2 gene in Northern Chinese Hart population, which could be used as genetic in- dexes for association analysis of the related diseases, as well as for forensic individual identification and paternity testing.

关 键 词：法医遗传学 多态性 单核苷酸 色氨酸羟化酶 汉族 

分 类 号：R692.31[医药卫生—泌尿科学]