基于一种快速方法检测中国汉族人群中对氧磷酶（PON）基因簇的多态性。

Detecting the polymorphisms of paraoxonase (PON) cluster in Chinese Han population based on a rapid method.

作者信息

Zhang Ying, Zheng Fang, Du Hansong, Krepinsky Joan C, Segbo Julien A G, Zhou Xin

机构信息

Center for Gene Diagnosis, Zhongnan Hospital, Wuhan University, Wuhan 430071, P.R. China.

出版信息

Clin Chim Acta. 2006 Mar;365(1-2):98-103. doi: 10.1016/j.cca.2005.07.034. Epub 2005 Sep 26.

DOI:10.1016/j.cca.2005.07.034

PMID:16185677

Abstract

BACKGROUND

An increased risk of coronary heart disease has been shown to be associated with polymorphisms in PON1 gene in different populations. Polymorphisms in PON2 gene have been associated with the level of plasma lipoproteins and glucose and are thought to play a role in atherosclerosis.

METHODS

To detect PONs polymorphisms more rapidly and reliably, we modified and improved the method established by Motti et al. We redesigned the primer for amplifying the common polymorphism at position 311 of PON2, which produced more reliable and efficient amplification.

RESULTS

A second common polymorphism at codon 148 was also detected by our new method, as were the 2 polymorphisms in the PON1 gene. The new method allowed identification of 4 polymorphisms (PON1-192, PON1-55, PON2-148 and PON2-311) simultaneously. The PONs genotypes of 82 healthy persons were identified by this method. The allelic frequencies were: PON1-192: Q 46.3%, R 53.7%; PON1-55: L 95.1%, M 4.9%; PON2-148: A 85.4%, G 14.6%; PON2-311: S 77.4%, and C 22.6%, respectively.

CONCLUSION

This method represents a simple, economical and time-saving technique to simultaneously detect 4 polymorphisms in the PON cluster. It provides a useful application to enable further study of the relationship between PON1 and PON2 and their role in atherosclerosis.

摘要

背景

在不同人群中，冠心病风险增加已被证明与对氧磷酶1（PON1）基因多态性有关。对氧磷酶2（PON2）基因多态性与血浆脂蛋白和葡萄糖水平相关，被认为在动脉粥样硬化中起作用。

方法

为了更快速、可靠地检测对氧磷酶（PONs）多态性，我们修改并改进了莫蒂等人建立的方法。我们重新设计了用于扩增PON2基因第311位常见多态性的引物，该引物产生了更可靠、高效的扩增。

结果

我们的新方法还检测到了第148位密码子处的另一种常见多态性，以及PON1基因中的2种多态性。新方法能够同时鉴定4种多态性（PON1-192、PON1-55、PON2-148和PON2-311）。用该方法鉴定了82名健康人的PONs基因型。等位基因频率分别为：PON1-192：Q 46.3%，R 53.7%；PON1-55：L 95.1%，M 4.9%；PON2-148：A 85.4%，G 14.6%；PON2-311：S 77.4%，C 22.6%。