中国北方汉族群体DRD4基因3个位点遗传多态性  

Genetic polymorphisms of three loci in D4 gene of dopamine receptor in northern Chinese Han population

作　　者：董越[1] 庞灏[1] 丁梅[1] 宣金锋[1] 邢佳鑫[1] 姚军[1] 王保捷[1] 

机构地区：[1]中国医科大学法医学院,辽宁沈阳110122

出　　处：《中国法医学杂志》2016年第1期43-46,共4页Chinese Journal of Forensic Medicine

摘　　要：目的调查DRD4基因启动子区-1240L/S、-521C/T和第三外显子48bp VNTR 3个位点在中国北方汉族群体的遗传多态性分布,评价其法医学应用价值。方法收集中国北方汉族207例个体血液样本,提取模板DNA,采用聚合酶链反应和等位基因特异性扩增技术,对3个位点进行分型检测,应用Arlequin 3.5软件对分型数据进行统计分析。结果 3个位点分别检出2个(-1240L/S、-521C/T)和6个(48bp VNTR)等位基因,3种和9种基因型,经χ2检验,各位点基因频率分布均符合Hardy-Weinberg平衡(P>0.05);DP值均超过0.5;3个位点共检出14种单倍型,其中8种为主要单倍型,DP值为0.940,PE值为0.804;-1240L/S位点与非洲及高加索人群间的差异具有统计学意义(P<0.05),而与日本人群以及-521C/T位点与3种群体之间均无显著性差异(P>0.05)。结论中国北方汉族人群DRD4基因3个位点多态性分布均较好,在法医学个体识别与亲子鉴定中具有一定的应用价值。Objective This research was aimed to investigate the genetic polymorphisms of three loci （-1240L/S, -521C/T, 48bpVNTR） in D4 gene of dopamine receptor （DRD4） in northern Chinese Han population. Methods We collected 207 blood samples of northern Han Chinese population and extracted the DNA. Then three loci of the DRD4 gene of 207 samples were separately amplified by PCR technique and statistically analyzed by Arlequin 3.5 software. Results Two alleles and three genotypes were detected in -1240I/S, -521C/T loci while six alleles and 9 genotypes in 48bpVNTR loci. The gene frequency distributions are consistent with Hardy-Weinberg equilibrium （ P 〉 0. 05 ） by the X2 test and DP value was over 0. 5. Three loci were detected in 14 kinds of haplotypes and eight kinds are major haplotypes. DP value was 0. 940 while PE value was 0. 804. There is difference between with Africa population and Caucasus in -1240L/S loci （ P 〈 0. 05 ）, while there were no significant difference between with the Japanese population in the loci of -1240L/S and among three kinds of groups in -521C/T loci （P 〉 0. 05 ）. Conclusion The three loci in northern Chinese Han population have high genetic polymorphisms, which can be useful for forensic identification of individuals and paternity testing.

关 键 词：法医遗传学 多态现象 多巴胺D4 汉族 

分 类 号：D919[医药卫生—法医学]