【作者】 陈元堂； 郭娟； 何长江； 张丽； 吴瑜； 行养玲； 敖磊；

【Author】 CHEN Yuan-tang,GUO Juan,HE Chang-jiang,ZHANG Li,WUYu, XING Yang-ling,AO Lei.Xi’ an Mental Health Center,Xi’ an 710061,China

【机构】 西安市精神卫生中心；

【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,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,对ANKK1基因的rs4938015、rs7118900、rs2734849、rs1800497多态性分型,进行精神分裂症的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、rs711 8900、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。更多还原

【Abstract】 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 Amerecan 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 is connected with schizophrenia(P=0.026).Allele T is protect factor(Z=-2.19) and allele A is the hazard factor (Z=2.19).The rs4938015、rs7118900 and rsl800497 allele is 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 associated with schizophrenia(P values were 0.032、0.041、0.046,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.更多还原