人类PIP3-E基因与精神分裂症的关系

目的：通过对中国北方汉族89个核心家系（由89个精神分裂症患者和其健康父母组成）进行易感基因定位研究，探讨6号染色体长臂2区5带PIP3-E基因与精神分裂症的关系。 方法：从全血中提取基因组DNA，应用PCR-RFLP方法检测PIP3-E基因rs2236257单核苷酸多态性与精神分裂症的相关性。 结果：①rs2236257基因型频率的分布符合Hardy-Weinberg平衡；②单倍型相对风险分析(HRR)表明，rs2236257与精神分裂症无关联（P>0.05）；③传递不平衡检验（TDT）显示，父母和受累子女之间不存在显著的传递不平衡（P>0.05），即杂合父母传递给受累子女的等位基因无差异；④rs2236257等位基因频率与精神分裂症的思维不连贯、思维贫乏和病前人格三种临床症状相关联(均P<0.05)。 结论：PIP3-E基因位点rs2236257多态性可能与精神分裂症无关，但尚不能排除该位点附近其他SNPs与精神分裂症相关联的可能性。

Association between PIP3-E locus and schizophrenia

ObjectiveTo investigate the genetic association of the PIP3 E locus in the long arm of chromosome 6 with schizophrenia among 89 Chinese Han family trios, consisting of fathers, mothers, and affected offsprings with schizophrenia MethodsGenomic DNA was abstracted from the whole blood samples The PCR based restriction fragment length polymorphism (RFLP) technique was used to detect the association between single nucleotide polymorphism(SNPs)of rs2236257 and schizophrenia Results①The distribution of genotype frequencies of rs2236257 was not deviated from the Hardy Weinberg equilibrium; ②The haplotype relative risk test (HRR) did not show a genetic association between rs2236257 and schizophrenia ( P >0 05); ③The transmission disquilibrium test (TDT) did not show significantly biased transmission from parents to affected offsprings( P >0 05); ④There were correlations between rs2236257 allele frequencies and some clinical symptoms of schizophrenia,such as incoherence of thinking,poverty of thought and premorbid personality ( P <0 05).ConclusionThe polymorphism of rs2236257 in the PIP3 E locus may not be associated with schizophrenia although the association of the other SNPs at the PIP3 E locus with the illness can not be ruled out.