南京地区汉族腔隙性脑梗死患者蛋白激酶Cη基因多态性的研究

Investigation on protein kinase Cη gene polymorphism in Han patients with lacunar infarction in Nanjing district

目的探讨南京地区汉族腔隙性脑梗死患者蛋白激酶Cη(PRKCH)基因rs3783799位点和rs2230500位点的单核苷酸多态性(SNPs)。方法采用PCR和连接酶反应(LDR)技术,检测272例南京地区汉族腔隙性脑梗死患者(腔梗组)和296例非腔隙性脑梗死患者(对照组)PRKCH基因的SNPs。比较两组基因型分布和等位基因频率,并对PRKCH基因rs3783799位点和rs2230500位点进行配对连锁不平衡分析及单倍体型分析。结果腔梗组PRKCH基因rs3783799位点基因型分布[G/G型268例(98.5%),G/A型4例(1.5%)]及A等位基因频率(0.7%)与对照组[G/G型292例(98.6%),G/A型4例(1.4%);0.7%]比较的差异无统计学意义;腔梗组PRKCH基因rs2230500位点基因型分布[G/G型266例(97.8%),G/A型6例(2.2%)]及A等位基因频率(1.1%)与对照组[G/G型290例(98.0%),G/A型6例(2.0%);1.0%]比较的差异亦无统计学意义。单倍体型分析显示,两位点配对单倍体型G/G分布频率在腔梗组为98.9%,在对照组为98.6%,两组间比较的差异无统计学意义。结论 PRKCH基因rs3783799位点和rs2230500位点基因多态性可能与南京地区汉族人群腔隙性脑梗死的发病无关。

Objective To investigate the polymorphisms of protein kinase Cη（PRKCH） gene rs3783799 site and rs2230500 site in Han patients with lacunar infarction in Nanjing district.Methods PCR and ligase detection reaction（LDR） were used to detect the single nucleotide polymorphisms（SNPs） of PRKCH gene in 272 lacunar infarction patients（lacunar infarction group） and 296 no-lacunar infarction patients（control group）,and the genotypes and allele frequencies were compared between the two groups.Then the PRKCH gene rs3783799 site and rs2230500 site were analyzed by linkage disequilibrium and haplotype analysis.Results The genotype and A allele frequencies of PRKCH gene rs3783799 site in lacunar infarction group [G/G 268（98.5%）,G/A 4（1.5%）;0.7%] and control group [G/G 292（98.6%）,G/A 4（1.4%）;0.7%] were not significantly different.The genotype and A allele frequencies of PRKCH gene rs2230500 site in lacunar infarction group [G/G 266（97.8%）,G/A 6（2.2%）;1.1%] and control group [G/G 290（98.0%）,G/A 6（2.0%）;1.0%] were not significantly different either.Haplotype analysis showed that the frequence of G/G haplotype in lacunar infarction group was 98.9% and in control group was 98.6%.There was no significant difference between the two groups.Conclusion The gene polymorphism of rs3783799 site and rs2230500 site of PRKCH gene may have no relation with the onset of lacunar infarction in Han population in Nanjing district.