PCYT1A基因多态性与精神分裂症的关系

目的：探讨3号染色体PCYT1A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115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-限制性片段长度多态性（PCR-RFLP）的方法对以上样品进行PCYT1A基因型检测，应用遗传统计方法进行传递不平衡检验（TDT）及基于单体型的单体型相对风险分析(HHRR)。结果：患者组和父母组中PCYT1A基因rs3772108位点基因型频率分布均符合Hardy-Weinberg平衡定律（P>0.05）；HHRR分析结果显示，父母传递和未传递给患者的等位基因C、T的频数分布差异无显著性（χ²=0.011，P>0.05）；TDT分析结果表明，杂合子父母双亲的两个不同等位基因传递概率没有偏离50%（χ²=0.010, P>0.05)。结论：3号染色体上的PCYT1A基因rs3772108位点基因多态性与精神分裂症无关联。

Association between PCYT1A gene polymorphism and schizophrenia

Objective To investigate genetic association between PCYT1A gene and schizophrenia in Chinese Han population from the Northeast area of China.Methods PCR-RFLP analysis was applied to detect the genotype of PCYT1A gene in 115 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 genotype data.Results The genotypic frequency of the PCYT1A gene did not deviate from Hardy-Weinberg equilibrium in both the patient group(P>0.05)and the parent group(P>0.05);The HHRR analysis did not show allelic association for the PCYT1A gene(χ2=0.011,P>0.05);the TDT analysis did not show preferential transmission of the two alleles(χ2=0.010,P>0.05).Conclusion There is no association between schizophrenia and the genetic polymorphism of rs3772108 locus of PCYT1A gene on chromosome 3.