5-羟色胺转运蛋白基因多态性与精神分裂症的传递不平衡分析  

Transmission disequilibrium test of polymorphisms of serotonin transporter gene and schizophrenia based on family trios

作　　者：孙伟伟[1] 樊金波[2] 钱学庆[2] 唐君霞[2] 行养玲 史建国 朱韶敏 刘会军 顾牛范[5] 冯国鄞[5] 贺林[1] 

机构地区：[1]上海交通大学Bio-X生命研究中心,200030 [2]中国科学院上海生命科学研究院 [3]西安精神卫生中心 [4]吉林省四平市精神卫生中心 [5]上海市精神卫生中心

出　　处：《中华医学遗传学杂志》2003年第4期342-344,共3页Chinese Journal of Medical Genetics

基　　金：国家 8 63计划项目 (2 0 0 1 AA2 2 4 0 1 1 );973计划项目(G1 9980 51 0 0 2 );上海市科委项目 (99TC1 4 0 4 7)~~

摘　　要：目的　探讨 5 -羟色胺转运蛋白基因第 2内含子可变数目串联重复序列 (Intronic,variablenumber tandem repeat,Intronic VNTR)位点和启动子区 VNTR位点 (5 - HTTL PR)在精神分裂症发病机理中的作用。方法　应用传递不平衡分析方法对来自上海、西安和吉林的总计 314个精神分裂症简单核心家庭进行分析。结果　三地单独及合并样本的传递不平衡分析结果表明 ,这两个多态位点由杂合子父母传递给患病子女的等位基因频率差异无显著性。结论　 5 -羟色胺转运蛋白基因上 Intronic VNTR和 5 - HT-TL PR多态位点在中国汉族人群精神分裂症发病机理中不起主要作用。Objective: To investigate the relationship between two polymorphisms (Intronic VNTR and 5-HTTLPR) of the serotonin transporter gene and schizophrenia. Methods: A set of 314 schizophrenic trio samples collected from Shanghai, Xi'an and Jilin regions of China independently was subjected to analysis of the polymorphisms by transmission/disequilibrium test (TDT). Results: No significantly preferential transmission of any allele was detected from both polymorphisms investigated. Conclusion: The results suggest that the serotonin transporter gene is unlikely to have a major contribution to susceptibility to schizophrenia in Han Chinese population.

关 键 词：精神分裂症 5-羟色胺转运蛋白 基因多态性 传递不平衡检验 

分 类 号：R749.3[医药卫生—神经病学与精神病学]