多巴胺D3受体基因Ser-9-Gly多态性与阿尔茨海默病的关联研究

No Evidence for an Association between theDopamine D3 Receptor Gene Ser-9-GlyPolymorphism and Late-onset Alzheimer'sDisease in the Han Chinese

目的观察多巴胺Ｄ３受体基因(ｄｏｐａｍｉｎｅＤ３ｒｅｃｅｐｔｏｒ ｇｅｎｅ,ＤＲＤ３)Ｓｅｒ－９－Ｇｌｙ多态性在广州地区汉族老年人中的分布,探讨其与晚发阿尔茨海默病(Ａｌｚｈｅｉｍｅｒ’ｓ ｄｉｓｅａｓｅ,ＡＤ)的相关性。方法以１０７例晚发ＡＤ患者和１４６名健康老年人为对象进行病例－对照研究。用聚合酶链反应－限制性片段长度多态性方法分析ＤＲＤ３基固Ｓｅｒ－９－Ｇｌｙ多态性。结果晚发ＡＤ患者和正常老年人中ＤＲＤ３等位基因１的频率均为７７%,等位基因２的频率均为２３%;ＡＤ患者与正常对照组１/１纯合体分别为５９%和５８%,２/２纯合体均为５%;晚发ＡＤ患者和健康老年人之间ＤＲＤ３等位基因和基因型分布差异无显著性(Ｐ＞０．０５);ＤＲＤ３基因Ｓｅｒ－９－Ｇｌｙ多态性与晚发ＡＤ无关联。结论广州地区汉族人群中ＤＲＤ３基因Ｓｅｒ－９－Ｇｌｙ多态性与晚发ＡＤ不具有关联。

ve:To investigate the relationship between the Ser-9-Gly polymorphism in the dopamine D3 receptor gene(DRD3) and late-onset Alzheimer's disease (LOAD) in the Han Chinese. Methods: The Ser-9-Gly polymorphism in the DRD3 gene in 107 patients with LOAD and 146 age-matched normal elderly subjects were examined by polymerase chain reaction-restriction fragment length polymorphism ( PCR-RFLP ). Results: The frequency of allele 1 of DRD3 was 77% in both AD patients and controls, the frequency of allele 2 of DRD3 was 23% in both groups, the frequency of 1/1 genotype was 59% and 58% in AD and controls respectively, the frequency of the homozygosity of 2/2 genotype was 5% in both groups. No significant differences for alleles or genotypes were found in the Chinese population ( P > 0. 05). Conclusion: Our findings indicated no association between Ser-9-Gly polymorphism in the DRD3 gene and LOAD in Han population in Guangzhou.