PLA2G4C基因小卫星多态性与精神分裂症发病的关联性

发布时间：2018-08-03 18:50

【摘要】：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27bp的重复序列(小卫星),经测序呈现1×27bp、2×27bp和3×27bp 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(P0.05)。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(P0.05),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(P0.05)。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。
[Abstract]:Aim: to investigate the relationship between schizophrenia and small satellite polymorphism in exon 1 of PLA2G4C gene and to reveal the important role of DNA sequence polymorphism in the pathogenesis of schizophrenia. Methods: 91 patients with schizophrenia and 81 healthy subjects from Han nationality in northern China were studied. The small satellite polymorphism in exon 1 of PLA2G4C gene was detected by direct sequencing of PCR products. The distribution of small satellite polymorphism in exon 1 of PLA2G4C gene in different groups was statistically analyzed by 蠂 2 test of fitness. The relationship between small satellite polymorphism in exon 1 of PLA2G4C gene and schizophrenia was investigated. Results there was a repeat sequence of 27bp (small satellite) in exon 1 of the first exon of the 1: PLA2G4C gene, which showed 3 polymorphisms (1 脳 27bp2 脳 27bp and 3 脳 27bp), and there was no significant difference in allele distribution between the two groups (P0.05). In the case group and the control group, there was no significant difference in genotype distribution between homozygous genotype and control group (P0.05), but no significant difference in heterozygous genotype distribution (P0.05). Conclusion there is a microsatellite polymorphism in the first exon of the gene, which may not be associated with schizophrenia.
【作者单位】：吉林大学公共卫生学院流行病与卫生统计学教研室吉林大学医学基因组研究中心;吉林大学中日联谊医院心内科;
【基金】：国家自然科学基金资助课题(30972536) 吉林大学研究生创新研究计划项目资助课题(20121127)
【分类号】：Q75;R749.3

【参考文献】