PLA2G4C基因小卫星多态性与精神分裂症发病的关联性

摘要

Objective To investigate the association between the minisatellite polymorphism in the first exon of PLA2G4C gene and schizophrenia, and to reveal the important role of DNA sequence polymorphism in the pathogenesis of schizophrenia.Methods The minisatellite polymorphisms in the first exon of PLA2G4C gene in 91 patients with schizophrenia (case group)and 81 healthy persons (control group)were detected with PCR-sequencing analysis.The chi-square (χ2 )goodness-of-fit test was used to analyze the distribution of the PLA2G4C minisatellite polymorphism in various groups and to explore the association between the minisatellite polymorphism in the first exon of PLA2G4C gene and schizophrenia. Results There were minisatellite polymorphisms in PLA2G4C gene.Three kinds of polymorphisms 1×27 bp,2×27 bp and 3×27 bp were found by sequencing.The distribution of allelic frequencies at PLA2G4C polymorphism showed no statistical significance between case group and control group (P>0.05 ). No statistically significant difference was found in 3-homozygous haplotypes in PLA2G4C gene between case group and control group (P>0.05).At the same time,there was no statistically significant difference between 3-heterozygous haplotypes in PLA2G4C gene between case group and control group (P>0.05).Conclusion The minisatellite polymorphisms in the first exon of PLA2G4C gene are found,but the minisatellite polymorphism in the first exon of PLA2G4C gene may be not associated with the occurrence of schizophrenia.%目的：探讨精神分裂症与 PLA2G4C基因第一外显子区域小卫星多态性的关系，揭示 DNA序列多态性在精神分裂症发病机制中的重要作用。方法：以中国北方汉族无血缘关系的91例精神分裂症患者及81名健康人作为研究对象，采用PCR产物直接测序法检测 PLA2G4C基因第一外显子区域小卫星多态性。采用拟合优度χ2检验统计分析PLA2G4C基因第一外显子区域小卫星多态性在不同分组中的分布情况，探讨 PLA2G4C基因第一外显子区域小卫星多态性与精神分裂症的关系。结果：PLA2G4C基因第一外显子区域存在27 bp的重复序列（小卫星），经测序呈现1×27 bp、2×27 bp和3×27 bp 3种多态性；该小卫星多态性在病例组和对照组中等位基因分布比较差异无统计学意义（P＞0.05）。在病例组与对照组中，纯合型（等位基因的拷贝数一致）基因型分布的比较差异无统计学意义（P＞0.05），杂合型（等位基因的拷贝数不一致）基因型分布的比较差异无统计学意义（P＞0.05）。结论：PLA2G4C基因第一外显子区域存在小卫星多态性，该小卫星多态性可能与精神分裂症无关联。