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

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.