锚蛋白重复和激酶域1基因多态性与精神分裂症的关联研究  

Association study of schizophrenia and ankyrin repeat and kinase domain containing 1 gene polymorphism

作　　者：郭娟[1] 陈元堂[1] 何长江[1] 张丽[1] 吴瑜[1] 行养玲[1] 敖磊[1] 

机构地区：[1]西安市精神卫生中心,西安710061

出　　处：《中华行为医学与脑科学杂志》2010年第10期912-914,共3页Chinese Journal of Behavioral Medicine and Brain Science

基　　金：基金项目：陕西省卫生厅科学研究基金（06034）

摘　　要：目的 探讨锚蛋白重复和激酶域1（ANKK1）基因多态性与精神分裂症的相关性.方法 收集符合美国DSM-Ⅳ精神分裂症诊断标准的112个先证者及其父母组成的核心家系,运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对ANK K1基因的rs4938015、rs7118900、rs2734849、rs1800497多态性分型,进行精神分裂症与锚蛋白重复和激酶域1基因多态性的关联分析和单体型相对风险率分析.结果 rs2734849等位基因与精神分裂症相关联（P=0.026）,其中等位基因T是保护因素（Z=-2.19）,A为危险因素（Z=2.19）;rs4938015、rs7118900、rs1800497与精神分裂症无关联.三种单体型rs7118900-rs2734849的G/A、rs 2734849-rs1800497的A/C、rs7118900-rs2734849-rs1800497中的G/A/C与精神分裂症有关联（P值分别为0.032,0.041,0.046,基因型频率分别为0.36,0.29,0.17）.结论 ANKK1基因与精神分裂症相关联.Objective To detect the genetic association between schizophrenia and polymorphism of Ankyrin repeat and kinase domain containing 1 （ ANKK1 ） gene. Methods Observed in a sample of 112 parent/offspring trios where the proband net the American Classification and diagnostic Criteria for Mental Disorders The Forth Revised Edition, criteria for schizophrenia using correlation analysis and haplotype relative risk analysis. The polymorphism of Ankyrin repeat and kinase domain containing 1 gene was detected with PCR methods and SNP typing in all nucleus families. Results The rs2734849 allele was connected with schizophrenia（P= 0. 026）. Allele T was protective factor（ Z= -2.19） and allele A was the hazard factor（ Z=2. 19）. The rs4938015,rs7118900 and rs1800497 allele were independence with schizophrenia. Three kinds haplotypes of G/A in the rs7118900 -rs2734849, A/C in the rs2734849 -rs1800497, G/A/C in the rs7118900 -rs2734849 -rs1800497 were associated with schizophrenia （ The P values were 0.032,0. 041,0.046, the genotype frequencies were 0. 36,0.29,0. 17 ）.Conclusion It shows an association between schizophrenia and the polymorphism at nucleotide of ankyrin repeat and kinase domain containing 1 gene in Chinese.

关 键 词：精神分裂症 锚蛋白重复和激酶域1 多态性 关联分析 

分 类 号：R749.3[医药卫生—神经病学与精神病学]