【摘要】 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更多还原

【Abstract】 Objective To determine the distribution of dopamine D2,D3, and D5 receptor(DRD2,DRD3,DRD5) gene polymorphisms in Guangzhou Hans. Methods A total of 141 healthy Guangzhou Hans were studied by the use of polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) and PCR amplification of specific allele (PASA) techniques. Current results were compared with the data on other ethnic groups.Results Within the 141 individuals tested,the frequencies of the A1(Taq Ⅰ-) and A2(Taq Ⅰ+) alleles of the TaqⅠ A mutation site in the 3′non coding region of the DRD2 gene were found to be 48% and 52% , respectively. The observed frequencies of the A1A1, A1A2 and A2A2 genotypes were found to be 17%, 52% and 31%, respectively, which met Hardy Weinberg equilibrium. The frequencies of the A1 and A2 alleles of the Bal Ⅰ mutation site in the exon 1 of DRD3 gene were found to be 73% and 27%, respectively. The observed frequencies of the A1A1, A1A2 and A2A2 genotypes were found to be 53%, 39% and 8%, respectively, which met Hardy Weinberg equilibrium. The frequencies of the 1 and 2 alleles of the Msp Ⅰ mutation site in the intron 5 of DRD3 gene were found to be 62.5% and 37.5%, respectively. The observed frequencies of the 1 1, 1 2 and 2 2 genotypes were found to be 35%, 55% and 10%, respectively, which met Hardy Weinberg equilibrium. No linkage disequilibrium was observed between the Bal Ⅰ and Msp Ⅰ polymorphism in Guangzhou Hans( χ 2 =0 165, P >0.05). The frequencies of the T and C alleles of the T978C mutation site of DRD5 gene were found to be 51% and 49%, respectively. The observed frequencies of the T/T, T/C and C/C genotypes were found to be 23.6%, 54.6% and 21.8%, respectively, which met Hardy Weinberg equilibrium.Conclusion The polymorphisms of DRD2, DRD3, DRD5 gene in Guangzhou Hans were high and different from those in other populations.更多还原