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目的 探讨内皮细胞型一氧化氮合酶 (eNOS)基因第 7外显子 894G→T点突变 ,及其第4内含子的 1个 2 7bp的插入 /缺失 (a/b)多态性 ,与 2型糖尿病肾病 (DN)之间的关系。方法 894G→T点突变采用聚合酶链反应限制性片段长度多态性 (PCR RFLP)技术 ,2 7bp的a/b多态性采用聚合酶链反应结合 4 %琼脂糖凝胶电泳分离技术。比较各组间的等位基因频率与基因型频率。结果 (1)早期糖尿病肾病组 (DN+ 组 )T等位基因及TG基因型频率显著高于糖尿病非肾病患者 (DN-组 ,P <0 0 5 )。 (2 )DN+ 组a等位基因及ab基因型频率显著高于DN-组 (P <0 0 5 )。 (3)DN+ 组的TGab基因型频率亦显著高于DN-组 (P <0 0 5 )。 (4)糖基化血红蛋白 (GHbA1c)、收缩压 (SBP)、总胆固醇(TC)、eNOS基因第 7外显子 894G→T基因点突变及第 4内含子a/b多态性均属糖尿病肾病的独立危险因素。结论 糖尿病患者eNOS基因第 7外显子T等位基因及第 4内含子a等位基因与DN+ 的发生密切相关 ,两种等位基因同时存在者 ,DN+ 发病风险更高
Objective To investigate the 894G → T point mutation of exon 7 of endothelial nitric oxide synthase (eNOS) gene and a 27 bp insertion / deletion (a / b) polymorphism of its intron 4 in eNOS gene. And type 2 diabetic nephropathy (DN). Methods 894G → T point mutations were detected by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) and 27 bp a / b polymorphisms by polymerase chain reaction combined with 4% agarose gel electrophoresis. The allele frequency and genotype frequency were compared between groups. Results (1) The frequencies of T allele and TG genotype in DN group (DN + group) were significantly higher than those in non-DN group (DN- group, P <0.05). (2) The frequency of a allele and ab genotype in DN + group was significantly higher than that in DN-group (P <0.05). (3) The frequency of TGab genotype in DN + group was also significantly higher than that in DN-group (P <0.05). (4) GHbA1c, SBP, TC, eNOS gene exon 7 894G → T gene point mutation and intron 4 a / b polymorphism belong to Independent risk factors for diabetic nephropathy. Conclusion There is a close relationship between the T allele of exon 7 and the a intron 4 of eNOS gene in diabetic patients and the occurrence of DN +. The presence of both alleles is associated with a higher risk of DN +