中国北方汉族群体多巴胺受体D5基因4个SNP遗传多态性

Genetic Polymorphisms of Four SNP Loci in D5 Gene of Dopamine Receptor in Northern Chinese Han Population

目的调查多巴胺受体D5(dopamine receptor D5,DRD5)基因rs77434921、rs2076907、rs6283、rs1800762 4个SNP位点在中国北方汉族群体中的遗传多态性分布。方法采用PCR测序方法对中国北方汉族206例个体的4个SNP位点进行检测,应用Haploview v4.1软件进行统计分析。结果在中国北方汉族群体中rs77434921、rs2076907、rs6283、rs1800762位点的基因型频率分布均符合Hardy-Weinberg平衡。个体识别能力(DP)分别为0.145、0.532、0.602、0.159,非父排除率(PE)分别为0.004、0.079、0.196、0.007。4个SNP处于连锁不平衡状态,可以组成5种单倍型。结论中国北方汉族人群DRD5基因rs2076907与rs6283位点多态性分布较好,在法医学个体识别与亲子鉴定中具有一定的应用价值。

Objective To reveal the genetic polymorphisms of four SNP loci （rs77434921, rs2076907, rs6283, rs1800762） in D5 gene of dopamine receptor （DKD5） in Northern Chinese Han population. Methods Four SNP loci of the DRD5 gene of 206 unrelated individuals in Northern Chinese Han popu- lation were separately amplified and sequenced by PCR technique and statistically analyzed by Haploview v4.1 software. Results In Northern Chinese Han population, the genotype frequency distribution of rs77434921, rs2076907, rs6283 and rs1800762 loci in the DRD5 gene were all in accordance with Hardy-Weinberg equilibrium. DP value was 0.145, 0.532, 0.602 and 0.159, while PIE value was 0.004, 0.079, 0.196 and 0.007. A linkage disequilibrium among these four SNP loci was also demonstrated, which might infer five haplotypes. Conclusion rs2076907 and rs6283 loci of DRD5 gene in the Northern Chinese Han population have high genetic polymorphisms, which can be useful for forensic identification of individuals.