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目的 探讨广州地区汉族人群多巴胺 D2 (DRD2 )、D3(DRD3)、D5 (DRD5 )受体基因的多态性分布规律。方法 用聚合酶链反应 -限制性片段长度多态性和聚合酶链反应 -等位基因特异性扩增技术对141名广州地区汉族人的 DRD2、DRD3、DRD5基因多态性进行了检测 ,并与其他人群做了比较。结果DRD2基因 3′端非翻译区的 Taq A突变点 A1(Taq - )、A2 (Taq + )等位基因频率分别为 48%和5 2 % ;A1A1、A1A2和 A2 A2基因型频率分别为 17%、5 2 %和 31%。 DRD3基因第 1外显子 Bal 突变点A1、A2等位基因频率分别为 73%和 2 7% ;A1A1、A1A2和 A2 A2基因型频率分别为 5 3%、39%和 8%。DRD3基因第 5内含子 Msp 突变点等位基因 1(Msp - )、2 (Msp + )的频率分别为 6 2 .5 %和 37.5 % ;1- 1、1- 2和 2 - 2基因型频率分别为 35 %、5 5 %和 10 %。而且发现在广州地区汉族人群 DRD3基因 Bal 突变点与 Msp 突变点不存在连锁不平衡关系 (χ2 =0 .16 5 ,P>0 .0 5 )。 DRD5基因 T978C突变点 T、C等位基因频率分别为 5 1%和 49% ;T/ T、T/ C和 C/ C基因型频率分别为 2 3.6 %、5 4.6 %和 2 1.8%。结论 广州地区汉族人群中 DRD2、DRD3和 DRD5基因具有高度多态性 ,并与其他种族间存在明显的差异
Objective To investigate the distribution of DRD2, DRD3 and D5 (DRD5) receptor gene polymorphisms in Chinese Han population in Guangzhou. Methods Polymorphisms of DRD2, DRD3 and DRD5 genes were detected in 141 Hans in Guangzhou using polymerase chain reaction-restriction fragment length polymorphism and polymerase chain reaction-allele-specific amplification. Compared with other groups. Results The frequencies of Taq A and Taq + alleles in the 3 ’untranslated region of DRD2 gene were 48% and 52% respectively. The frequencies of A1A1, A1A2 and A2 A2 genotypes were 17 %, 5 2% and 31%. The frequency of A1 and A2 alleles in Bal mutation point of exon 1 of DRD3 gene were 73% and 27% respectively. The A1A1, A1A2 and A2 A2 genotype frequencies were 53%, 39% and 8% respectively. The frequencies of Msp - 2 and Msp + in the fifth intron of DRD3 gene were 62.5% and 37.5%, respectively. The frequencies of 1 - 1, 1 - 2 and 2 - 2 genotypes The frequencies were 35%, 55% and 10% respectively. Moreover, it was found that there was no linkage disequilibrium between the mutation point of Bal of DRD3 gene and Msp mutation point (χ2 = 0.165, P> 0.05) in Han population in Guangzhou. The frequencies of T and C alleles of T978C mutation in DRD5 gene were 51% and 49%, respectively. The frequencies of T / T, T / C and C / C genotypes were 23.6%, 54.6% and 21.8%, respectively. Conclusion DRD2, DRD3 and DRD5 genes in Han population in Guangzhou are highly polymorphic and have significant differences with other races