中国汉族健康群体多巴胺D1受体-48A/G基因多态性分布

Distribution of dopamine D1 receptor -48A/G gene polymorphism of healthy Han population in China

目的:了解中国汉族健康群体多巴胺D1受体-48A/G基因的多态性。方法:随机收集2004-03/07武汉大学人民医院门诊体检中心健康汉族人188名,其中男112名,女76名。用聚合酶链反应-限制性片段长度多态性方法,分析限制性酶切位点-48A/G的多态分布。结果:188名健康人的测试结果进入分析。①多巴胺D1受体-48A/G基因型在中国汉族健康人群中的分布特点:以AA纯合子型最多见(0.71),AG杂合子型次之(0.28),GG纯合子型最为罕见(0.01);等位基因频率的分布以A等位基因最多见(0.85),其次为G等位基因(0.15)。在男女性别之间,基因型频率(χ2=1.582,P>0.05)和等位基因频率(χ2=0.606,P>0.05)分布差异无显著性。②不同种族间多巴胺D1受体-48A/G基因型分布的比较:中国汉族健康群体多巴胺D1受体-48A/G等位基因的分布与高加索、德国及日本人群相比差异有显著性(P<0.01);在基因型的分布上,与日本人群也存在显著性差异(P<0.01)。结论:中国汉族健康群体多巴胺D1受体-48A/G以AA纯合子基因型最多,等位基因频率的分布以A等位基因最多;在男女性间的基因型频率和等位基因频率分布无差异。中国汉族健康群体与高加索、德国及日本报道的人群多巴胺D1受体-48A/G等位基因分布和基因型的分布不同。

AIM：To investigate the dopamine D1 receptor -48A/G gene polymorphism in healthy Chinese Han population.METHODS： Totally 188 healthy Han people （112 males and 76 females）,who received physical examination in the Renmin Hospital of Wuhan University between March and July 2004, were randomly selected. The distribution of polymorphism at restriction enzyme site -48A/G was analyzed with the method of polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）.RESULTS： According to intention-to-treat analysis, the test results of all the 188 heahhy subjects were analyzed. ① The distributive characteristics of dopamine D1 receptor -48A/G genotype in healthy Chinese Han population： The type of AA homozygote was the commonest （0.71）, followed by AG heterozygote （0.28）, and GG homozygote was the rarest （0.01）, The frequency of A allele was the commonest （0.85）, followod by G allele （0.15）.Between males and females, there were insignificant differences in the distrihution of genotypic frequency （x^2=1.582, P 〉 0.05） and allele frequency（x^2=0.606, P 〉 0.05）. ②Comparison of the distribution of dopaminc D1 rcceptor-48A/G genotype between different races; The distribution of dopamine D1 receptor -48A/G allele in healthy Chinese Han population was significantly different from those in Caucasian, German and Japanese（P 〈 0.01）; The distribution of genotype was also significantly different between healthy Chinese Han population and Japanese （P 〈 0.01）.CONCLUSION： Among healthy Chinese Han population, dopamine D1 receptor -48A/G genotype of AA homozygote is the most, and the distribution of its A allele frequency is the most; There are insignificant differences in the distribution of gentotypic frequency and allele frequency between males and females; The distributions of dopamine D1 receptor -48A/G allele and genotype in healthy Chinese Han population are different from thnse in Caucasian, German and Japanese.