5-羟色胺转运体基因启动子区与心境障碍的关联分析  

An association analysis between affective disorders and polymorphism in the promoter region of serotonin transporter gene

作　　者：高树贵 刘少文[1] 蔡贵庆[2] 邢玉华[3] 姚宁[3] 

机构地区：[1]汕头大学医学院精神医学教研室 [2]中山大学基础医学院法医学系 [3]山东省济宁医学院第二附属医院

出　　处：《上海精神医学》2004年第3期141-144,共4页Shanghai Archives of Psychiatry

摘　　要：目的　探讨 5 羟色胺转运体基因启动子区 5 HTTLPR与心境障碍之间的分子遗传学联系。方法　在中国汉族人群中 ,以心境障碍核心家系作为研究对象 ,根据哈佛大学提供的遗传学研究用诊断性检查表 (DIGS)自编家系调查表 ,采用DSM Ⅳ诊断标准并结合一些心理测评工具 ,以达到表型一致。在 72个情感性精神障碍核心家系 ,2 2 2个家系成员 (其中双相障碍 5 6例 ,重性抑郁症 34例 )中 ,应用聚合酶链反应 (PCR)和限制性片段长度多态性方法 ,对 5 HTT基因启动子区 5 HTTLPR与心境障碍之间的分子遗传学联系进行了以家系为基础的连锁不平衡分析结果　基因型和等位基因频率在心境障碍患病组和父母对照组之间无显著差异。GHRR和HHRR分析以及多等位基因ETDT统计分析也没有发现存在连锁不平衡。 5 HTTLPR位点除了“L”和“S”片段外 ,还发现 2例出现“L+ ”(5 2 8+ bp)片段 ,频率约占 1%。结论　 5 HTTLPR在心境障碍的发病中可能不起重要作用。Objective: To explore the association between mood disorder and polymorphism in the promoter region of 5-HTT gene in molecular genetics. Methods: We selected mood-disorder core pedigrees with Han nationality as subjects and investigated with self-edited family questionnaire according to Diagnostic Investigation Genet Scale(DIGS)provided by Harvard University and adopted American Diagnostic Criterion DSM-Ⅳ(Diagnostic and Manual of Mental Disorder 4th)and combined with some psychological rating tools to reach phenotypes consistency. Genomic DNA was isolated from 72 core pedigrees, involved 222 family members (including 56 with bipolar disorders and 34 with major depression). Polymerase chain reaction (PCR) and restriction enzyme digestion techniques were used to carry out the genotype. A family-based linkage disequilibrium analysis was conducted. Results: There were no significant differences between the parent′s group and the patient′s group in genotype and allele gene frequency of 5-HTTLPR by the case-parent control study. And the GHRR, HHRR and the TDT of multiple allele did not show association between affective disorder and this polymorphism locus in the 5-HTT gene. However, there was an “L+”( 528^+bp) besides the long allele “L” and short allele “s”, whose allele frequency was about 1%. Conclusion: 5-HTT gene may not play an important role at the onset of mood disorder.

关 键 词：5-羟色胺转运体 基因启动子 心境障碍 遗传学 家系调查 

分 类 号：R749.92[医药卫生—神经病学与精神病学]