5-羟色胺转运体基因VNTR位点与双相情感性障碍的关联分析  

ASSOCIATION OF VNTR REGION OF THE HUMAN SEROTONIN TRANSPORTER GENE WITH BIPOLAR DISORDER AMONG THE HAN CHINESE

作　　者：刘万清[1,2,3] 顾牛范[1,2,3] 冯国鄞[1,2,3] 张建刚[1,2,3] 李胜 柏邵春[1,2,3] 沈韬 贺林[1,2,3] 

机构地区：[1]中国科学院上海生命科学研究中心 [2]上海精神卫生中心 [3]英国阿伯丁大学

出　　处：《中华医学遗传学杂志》1998年第6期345-348,共4页Chinese Journal of Medical Genetics

基　　金：中国科学院资助;上海科委资助

摘　　要：目的探讨５－羟色胺转运体基因第２内含子ＶＮＴＲ区域在中国人群中的群体遗传学背景，以及与双相情感障碍的关系。方法利用ＰＣＲ等方法在１７０个随机健康中国人中对５－羟色胺转运体基因第２内含子的ＶＮＴＰ多态性位点进行了群体遗传学研究，并就该位点与双相情感障碍的关系进行了关联分析。结果该位点在中国人群中的多态信息含量为０．１２，杂合度为１２％，且符合孟德尔遗传方式；其基因型分布、等位片段频率在中国汉族人群与高加索人种间存在着极显著性差异（Ｐ＜１０－８）；在与情感性障碍的关联分析中发现该多态性位点的等位片段１０与双相情感障碍女性群体存在着显著的关联（Ｐ＝０．０４３）。结论该结果表明：５－羟色胺转运体基因ＶＮＴＲ的位点多态性在中国人群与高加索人群间存在极显著的差异；同时，在男女性双相情感障碍群体中的差别可能暗示了该疾病的发病机理在性别上的差异。Objective The serotonin transporter gene(SERT) plays an important role in the serotonin uptake into neurons. This paper reports a population and association study among the Han Chinese.Methods DNA were extracted from peripheral blood samples of 50 patients with bipolar disorder (DSM IIIR), 170 unrelated healthy Han Chinese individuals and 10 healthy trios for polymerase chain reaction. The VNTR locus was amplified and PCR products were separated on the 2% agrose gel.Results All the three alleles (9,10 and 12 copies of repeat unit) reported in other studies were observed in this study with frequency 0.0029,0.0676 and 0.9294, respectively. Four genotypes distributed in Caucasian:12/12,12/10,12/9 and 10/10 were also found in the Han Chinese population. A significant difference in the allele frequency between the Han Chinese and Caucasian populations was found( P <10 8 ). No disequilibrium was observed after checking the Hardy Weinberg equilibrium ( P =0.9995).The hereditary stability of this locus in accordance with the rules of Mendelian inheritance was demonstrated in the analysis of ten trios. In addition, a significant increase of frequency of the allele 10 in female patients with bipolar disorder was found ( P =0.043).Conclusion The data of association study might indicate a different mechanism of aetiology of bipolar disorder in male and female.

关 键 词：情感障碍 双相情感障碍 羟色胺转运体 基因 VNTR 

分 类 号：R749.4[医药卫生—神经病学与精神病学]