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目的:分析江苏省南京地区汉族人群腔隙性脑梗死患者的ALOX5AP基因、PDE4D基因单核苷酸多态性(singlenucleotide polymorphism,SNP),并研究其与脑梗死的发病是否存在相关性。方法:运用多聚酶链式反应(polymerase chain reaction,PCR)和连接酶检测反应(ligase detection reaction,LDR),观察280例腔隙性脑梗死患者和258例对照组人群的ALOX5AP基因及PDE4D基因的4个SNP位点,并进一步分析其基因型。结果:PDE4D基因rs966221、rs456009的等位基因、基因型频率在两组间没有显著性差异,单倍体型构成在两组间亦无显著性差异;ALOX5AP基因的两SNP(rs4073259、rs4769055)的等位基因和基因型频率在两组间差异均有显著性(P<0.05),SNP单倍体型(GA、GC)在两组间差异更为明显(P<0.01)。结论:本研究未发现PDE4D基因与腔隙性脑梗死的发病相关,但ALOX5AP基因可能为中国江苏省南京地区腔隙性脑梗死的易感基因。
Objective: To analyze the single nucleotide polymorphism (SNP) of ALOX5AP gene and PDE4D gene in patients with lacunar infarction in Han nationality in Nanjing of Jiangsu Province and to investigate whether there is a correlation between them and the incidence of cerebral infarction. Methods: Polymerase chain reaction (PCR) and ligase detection reaction (LDR) were used to detect ALOX5AP gene and PDE4D gene in 280 patients with lacunar infarction and 258 controls SNP sites, and further analysis of its genotype. Results: There was no significant difference in allele and genotype frequencies of rs966221 and rs456009 in PDE4D gene between the two groups. There was no significant difference in haplotype composition between the two groups. The two SNPs of ALOX5AP gene (rs4073259, rs4769055) There was significant difference between the two groups (P <0.05). The SNP haplotype (GA, GC) was significantly different between the two groups (P <0.01). Conclusion: We found no association between PDE4D gene and lacunar infarction. However, ALOX5AP gene may be a susceptibility gene to lacunar infarction in Nanjing, Jiangsu Province, China.