精神分裂症患者核心家系的5-羟色胺2A受体基因的传递/不平衡检验分析  

A family based association study of T102C polymorphism in 5-hydroxytryptamine receptor 2A gene and schizophrenia

作　　者：李飞[1] 江开达[1] 钱伊萍[2] 汤国梅[2] 汪栋祥[2] 江三多[2] 

机构地区：[1]上海市精神卫生中心精神科,200030 [2]上海市精神卫生中心分子遗传室,200030

出　　处：《中华精神科杂志》2001年第4期201-203,共3页Chinese Journal of Psychiatry

摘　　要：目的　对精神分裂症的 5 羟色胺 2A受体 ( 5HTR2A) T1 0 2C多态性作关联研究。方法采用聚合酶链反应扩增及限制性片段长度多态性的分子生物学技术 ,对符合精神分裂症诊断标准的92个先证者及其父母组成的核心家系 ,测定 5HTR2A 基因分型 ,进行精神分裂症的 5HTR2A T1 0 2C多态性的关联分析和传递 不平衡 (TDT)检验。结果　TDT检验结果提示 5HTR2A 等位基因 2 (C1 0 2 )与精神分裂症之间的相关性 (McNemarχ2 =4 63 ,P <0 0 5) ,且C1 0 2携带者的精神分裂症易患性是非T1 0 2携带者的 1 88倍 [相对风险度 (RR) =1 88;χ2(RR) =5 60 ,P <0 0 5]。结论　提示 5HTR2A C1 0 2与精神分裂症相关联。Objective To Detect the genetic association between schizophrenia and a T C polymorphism at nucleotide 102 of the 5 hydroxytryptamine receptor 2A(5HTR 2A ) gene Methods Observed in a sample of 92 parent/offspring trios where the proband net the Chinese Classification and diagnostic Criteria for Mental Disorders, the Second Revised Edition, criteria for schizophrenia using transmission/disequilibrium test (TDT) analysis The polymorphism of 5HTR 2A gene was detected with PCR methods and RFLP typing in all nucleus families. Results Using a family based association design we obtained evidence of an association between schizophrenia and allele 2 (C102) of the T102C polymorphism in the 5HTR 2A gene( RR =1 88, χ 2 ( RR ) =5 60, P < 0 05) Moreover the fact that transmission disequilibrium was observed when one affected offspring was selected at random from each family, suggesting that the results are due to association rather than linkage (McNemar χ 2=4 63, P <0 05) Conclusions It shows an association between schizophrenia and the C allele of a T C polymorphism at nucleotide 102 of the 5HTR 2A gene in Chinese

关 键 词：精神分裂症 聚合酶链反应 限制性片段长度多态性 遗传学 5-羟色胺-2A受体 

分 类 号：R749.3[医药卫生—神经病学与精神病学]