中国山东与新加坡华人内皮一氧化氮基因多态的比较及与糖尿病肾病的关系

目的探讨内皮一氧化氮合酶（eNOS）基因内含子4的多态性在中国山东与新加坡华人糖尿病患者中的分布及与糖尿病肾病的关系。方法237例2型糖尿病患者人选（山东华人87例、新加坡华人150例）。从全血中提取DNA进行多聚酶链反应、克隆及测序。结果新加坡华人中该基因多态性有3种等位基因,发现了一种新的等位基因,命名为c,有6个27bp重复序列;本土华人中只有2种等位基因。等位基因a．b和C均与糖尿病肾病无显著相关性,但等位基因a在中国山东与新加坡人群中的分布差异存在统计学意义（P〈0．01）。结论eNOS基因内含子4的多态性有3种等位基因;该基因多态性与糖尿病肾病无相关性。

Distribution of polymorphism in endothelial nitric oxide synthase gene in Singapore Chinese and its association with diabetic nephropathy

OBJECTIVE: To examine the distribution of intron 4 polymorphism in endothelial nitric oxide synthase (eNOS) gene in mainland Chinese and Singapore Chinese and its association with diabetic nephropathy (DN). METHODS: Peripheral blood samples were collected from 237 diabetes patients with the diabetic duration longer than 10 years, 87 mainland Chinese who visited the Qilu Hospital, Shandong province, and diabetic duration and blood sugar control-matched 150 Singapore Chinese who visited the Singapore National University Hospital. DNA extraction, PCR, cloning, and sequencing were conducted. RESULTS: The 27 bp repeat polymorphism in intron 4 was tri allelic (a, b, and c alleles) in the Singapore Chinese while biallelic (a and b alleles) in the mainland Chinese. A third allele-allele c, with six 27 bp repeats was found. Significant difference was identified in the a allele distribution between the mainland and the Singapore Chinese (P < 0.001), but the intron 4 polymorphism didn't show any association with DN. CONCLUSION: The intron 4 polymorphism is tri allelic, and the a allele distribution is not significantly associated with DN.