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目的探讨P47~(phox)基因第10外显子 C923T(Ala308Val)多态性与脑梗死的关系及其对血脂的影响。方法采用 PCR-单链构象多态技术和 DNA 直接测序法检测110例脑梗死患者、10个脑梗死家系成员和100名健康对照者的 P47~(phox)基因第10外显子 C923T 多态性;酶法测定总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C),免疫比浊法测定 apoA-I 及 apoB100,酶联免疫吸附法测定脂蛋白a血清水平。结果 P47~(phox)基因第10外显子C923T 多态存在 CC、CT、TT 三种基因型,脑梗死组及其各亚组 C923T 多态基因频率分布与对照组比较差异无统计学意义(P>0.05);脑梗死组和对照组 CT 基因型血清 TG 水平均明显高于 CC 基因型(P<0.05)。结论 P47~(phox)基因 C923T 多态性可能与脑梗死的易患性无关,但与血脂代谢有一定相关。
Objective To investigate the relationship between P47 ~ (phox) gene exon 10 C923T (Ala308Val) polymorphism and cerebral infarction and its effect on serum lipids. Methods Polymorphisms of P47 phox gene in exon 10 of 110 cerebral infarction patients, 10 cerebral infarction pedigree members and 100 healthy controls were detected by PCR-single strand conformation polymorphism and DNA direct sequencing. The levels of total cholesterol (TC), triglyceride (TG), high density lipoprotein cholesterol (HDL-C) and low density lipoprotein cholesterol (LDL-C) were measured by enzyme-linked immunosorbent assay (ELISA) Determination of serum lipoprotein a by enzyme - linked immunosorbent assay. Results There were three genotypes CC, CT and TT in the exon 10 C923T polymorphism of P47 ~ (phox) gene. The frequencies of C923T polymorphism in cerebral infarction group and its subgroups were not significantly different from those in control group P> 0.05). The serum TG levels of CT genotype in cerebral infarction group and control group were significantly higher than those in CC genotype (P <0.05). Conclusion C923T polymorphism of P47 ~ (phox) gene may not be related to the susceptibility to cerebral infarction, but it is related to lipid metabolism.