中文摘要：

目的探讨PCYT1B基因多态性与中国北方汉族人群精神分裂症的关系。方法以261个由精神分裂症患者及其健康父母双亲组成的核心家系为研究对象，采用聚合酶链式反应一限制性片段长度多态性（PCR—RFLP）的方法对以上样本进行PCYT1B基因型检测，应用SPSS 12．0统计学软件进行数据管理及分析。结果女性患者组和母亲组中基因型频率分布均符合Hardy-Weinberg平衡定律（P〉0．05）；单倍型相对风险分析（HHRR）结果显示，传递和未传递的等位基因c、T的频数分布无统计学意义（X^2=0．892，P〉0．05）；传递不平衡检验（TDT）分析结果表明，杂合子母亲的两个不同等位基因传递概率没有偏离50％（Y。=0．916，P〉0．05）。结论PCYT1B基因可能不是精神分裂症的易感基因。

英文摘要：

Objective To investigate a genetic association between the PCYT1B gene and schizophrenia in a Chinese Han population from the northeast area of China. Methods The PCR-based RFLP analysis was applied to genotype the PCYT1B gene in 261 family trios consisting of fathers, mothers and affected offspring with schizophrenia. The haplotype-based haplotype relative risk （HHRR） analysis and the transmission disequilibrium test （TDT） were used to process the genotyping data. Results The genotypic frequency of the PCYT1B gene did not deviate from Hardy-Weinberg equilibrium in both the female patient group （P 〉 0.05） and the mother group （P 〉 0.05）; The HHRR analysis did not show allelic association for the PCYT1B gene （x^2= 0. 892, P 〉 0.05）; The TDT analysis did not show preferential transmission of the two alleles （X^2 = 0. 916, P 〉0.05）. Conclusions The PCYT1B gene is unlikely confer a risk for schizophrenia.