【摘要】 目的　探讨内皮型一氧化氮合酶 (eNOS)基因 (CA)n多态性与 2型糖尿病及 2型糖尿病患者血清中一氧化氮 (NO)含量的相关关系。　方法　采用聚合酶链反应 (PCR)技术结合聚丙烯酰胺凝胶电泳和硝酸银染色 ,检测不同个体基因型 ;硝酸还原酶法测定空腹血清NO含量 ;分光光度法测定空腹血清NOS含量。　结果　eNOS基因 (CA)n多态性存在 2 2种等位基因 ,所含CA重复次数分别为 19～ 4 0 ,其中 (CA) 3 0 (16 6bp)等位基因最常见。该位点杂合度为 0 85 ,多态信息量为 0 83。糖尿病组和对照组中 (CA) 3 4 等位基因频率分别为 7 5 %和 2 9% ,差异有显著性 (χ2 =5 8,P <0 0 5 ,OR =1 31,95 %CI =1 2 7～ 3 96 ) ;基因型为 (CA)n1(CA)n2 的 2型糖尿病个体 ,当n1≥ 34或n2 ≥ 34时 ,血清中NO的含量显著低于对照组 (P <0 0 5 )。　结论　eNOS基因 (CA) 3 4 可能与 2型糖尿病相关 ,该基因多态性与血清NO水平有一定关系。更多还原

【Abstract】 Objective To explore the relationship of the (CA)n dinucleotide repeats polymorphism of the eNOS gene with type 2 diabete mellitus (DM) and the serum NO level in DM patients. Methods The eNOS genotype was assessed in 179 unrelated Chinese of Han nationality,including 93 patients with DM and 86 normal controls(NC).Genotype was determined by polymerase chain reaction(PCR) and denature polyacrylamide gel electrophoresis (PAGE) with silver stain.Fasting serum NO level was measured by nitrate reductase and fasting serum NOS level was measured by spectrophotometer. Results Twenty two different alleles were identified containing 19-40 CA repeats,in which the frequency of (CA) 30 (166bp)was the highest. The heterozygosity (H) and polymorphism information content (PIC) were 0.85 and 0.83 respectively. Frequency of allele (CA) 34 was higher in DM (7.5%) than in NC (2.9%) significantly. Compared with NC,the serum NO level was significantly lower in T2DM with genotype (CA)n 1 (CA)n 2 when n 1≥34 or n 2≥34. Conclusions The allele(CA) 34 is associated with the susceptibility to DM and may be involved in the development of DM. The eNOS gene polymorphism is connected with the serum NO level.更多还原