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血管内皮生长因子(VEGF)基因启动子(-634 G→C和-460 C→T)多态性与早产儿晚期视网膜病变风险之间无关联。

Lack of association of the VEGF gene promoter (-634 G-->C and -460 C-->T) polymorphism and the risk of advanced retinopathy of prematurity.

作者信息

Shastry Barkur S, Qu Xianggui

机构信息

Department of Biological Sciences, Oakland University, Rochester, MI, USA.

出版信息

Graefes Arch Clin Exp Ophthalmol. 2007 May;245(5):741-3. doi: 10.1007/s00417-006-0480-6. Epub 2006 Nov 22.

Abstract

BACKGROUND

Recently, it has been reported that genetic polymorphism (-634 G-->C and -460 C-->T) in the promoter region of the vascular endothelial growth factor (VEGF) gene can influence the progression of retinopathy of prematurity (ROP). In order to evaluate its general applicability as a screening procedure in clinics and to replicate the above result, we have undertaken the following study.

METHODS

We have analyzed a cohort of 61 patients with advanced ROP (stage 4 and 5) along with 61 normal controls for the VEGF gene promoter polymorphism. For this purpose, blood samples were collected from each patient and leukocyte DNA was isolated. Genomic DNA was amplified by the polymerase chain reaction (PCR) method with two pairs of primers designed to amplify separately the promoter region (containing -634 G-->C and -460 C-->T polymorphism) of the VEGF gene. The amplified product was subjected to restriction enzyme digestion. The base change in the restriction site was further confirmed by a BigDye terminator cycle sequencing of the amplified product.

RESULTS

Our analysis suggests that there is no significant difference in allelic frequency of the VEGF gene between normal subjects and patients with advanced ROP in our cohort.

CONCLUSION

Our results do not support the association of the VEGF gene promoter polymorphism and the risk of advanced ROP. In order to adapt this method for the identification of high-risk infants in clinics in the future, a large-scale study involving a mixed ethnically diverse population is much needed.

摘要

背景

最近,有报道称血管内皮生长因子(VEGF)基因启动子区域的基因多态性(-634 G→C和-460 C→T)可影响早产儿视网膜病变(ROP)的进展。为了评估其在临床作为筛查程序的普遍适用性并重复上述结果,我们进行了以下研究。

方法

我们分析了61例晚期ROP(4期和5期)患者及61例正常对照者的VEGF基因启动子多态性。为此,从每位患者采集血样并分离白细胞DNA。用两对引物通过聚合酶链反应(PCR)方法扩增基因组DNA,这两对引物设计用于分别扩增VEGF基因的启动子区域(包含-634 G→C和-460 C→T多态性)。扩增产物进行限制性酶切。通过对扩增产物进行BigDye终止循环测序进一步确认限制性位点的碱基变化。

结果

我们的分析表明,在我们的队列中,正常受试者与晚期ROP患者之间VEGF基因的等位基因频率没有显著差异。

结论

我们的结果不支持VEGF基因启动子多态性与晚期ROP风险之间的关联。为了将来使该方法适用于临床高危婴儿的识别,非常需要开展一项涉及不同种族混合人群的大规模研究。

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