[新加坡华人内皮型一氧化氮合酶基因多态性分布及其与糖尿病肾病的关系]

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

作者信息

Dong Jian-jun, Zhao Jia-jun, Lee Kok Onn, Lir Min-chen, Chan Shzu-wei, Liao Lin

机构信息

Department of Endocrinology, Qilu Hospital, Shandong University, Jinan 250012, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2007 Dec 25;87(48):3415-7.

PMID:18476541

Abstract

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.

摘要

目的

研究中国内地汉族和新加坡华人内皮型一氧化氮合酶（eNOS）基因第4内含子多态性的分布及其与糖尿病肾病（DN）的关系。

方法

收集237例糖尿病病程超过10年的糖尿病患者、87例来自山东省齐鲁医院的中国内地汉族以及150例来自新加坡国立大学医院且糖尿病病程和血糖控制情况相匹配的新加坡华人的外周血样本。进行DNA提取、聚合酶链反应（PCR）、克隆及测序。

结果

新加坡华人中第4内含子27 bp重复多态性为三等位基因（a、b和c等位基因），而中国内地汉族为双等位基因（a和b等位基因）。发现了第三个等位基因——具有6个27 bp重复序列的c等位基因。中国内地汉族和新加坡华人之间a等位基因分布存在显著差异（P < 0.001），但第4内含子多态性与糖尿病肾病无关联。