载脂蛋白H基因启动子32位点多态性与脑梗死的相关性研究

目的：研究上海地区汉族人的载脂蛋白H（ApoH）启动子32位点多态性和等位基因的分布情况，并探讨其在脑梗死（CI）患者和对照人群中的分布特点．以及其与脑梗死间的相关性。方法：采集278例CI患者及195名老年对照者的血液样本．以提取的基因组DNA为模版．应用聚合酶链反应一限制性片段长度多态性（PCR-RFLP）技术检测Aport启动子32位点基因多态性．并用基因测序方法验证PCR-RFLP结果。结果：ApoH启动子32位点基因多态性主要以CC和CA基因型存在。CI患者与对照者间Aport启动子32位点的等位基因频率、基因型频率分布差异无统计学意义（P〉0．05），但CI患者与对照者间的三酰甘油、总胆固醇、低密度脂蛋白胆固醇（LDL-C）及血糖水平有统计学差异（P〈O．05）。此外，仅在女性CI患者中观察到。CC与CA基因型携带者间的LDL—C水平有统计学差异（P〈0．05）。结论：Aport启动子32位点基因多态性可能与CI易感性无关．但与血脂代谢有一定关联。

Correlation between Aport gene promoter 32 polymorphism and cerebral infarction

Objective To investigate the gene polymorphism and the distribution of allele of apolipoprotein H （Aport） gene promoter 32, and to evaluate the correlation between the gene polymorphism and cerebral infraction （CI）. Methods The gene Aport promoter 32 polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 278 CI patients and 195 age-matched controls. The results of PCR-RFLP were further confirmed by gene sequencing. Results The blood glucose, serum TG, TC, LDL-C and blood pressure in CI patients were significantly higher than those in healthy controls （P〈0.05）. The A allele frequency in CI patients was 6.12% while that in healthy controls was 6.67%. There was no significant difference in genotype and allele distribution between CI patients and healthy controls （P〉0.05）. A significant difference in level of serum LDL-C between CC and CA genotype was seen only in female patients. Conclusions The Aport promoter 32 polymorphism had no correlation with cerebral infarction, but might have some correlation with metabolism of serum lipids.