沙特阿拉伯圆锥角膜患者VSX1基因分析。
Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.
作者信息
Abu-Amero Khaled K, Kalantan Hatem, Al-Muammar Abdulrahman M
机构信息
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, SaudiArabia.
出版信息
Mol Vis. 2011 Mar 8;17:667-72.
Abstract
PURPOSE
To screen the visual system homebox 1 (VSX1) gene in Saudi Arabian keratoconus patients.
METHODS
We sequenced the entire coding region, exon-intron boundaries in clinically confirmed keratoconus patients (n=55) and 50 ethnically matched healthy controls. All cases and controls were unrelated.
RESULTS
Sequencing VSX1 revealed the presence of five nucleotide changes, 3 of which were non-coding (g.8326 G>A, g.10945 G>T, and g.11059 A>C) and 2 were synonymous-coding sequence changes (g.5053 G>T and g.8222 A>G). All five sequence changes were benign polymorphisms with no apparent clinical significance.
CONCLUSIONS
In our keratoconus cohort, no pathogenic VSX1 mutation(s) were identified.
摘要
目的
筛查沙特圆锥角膜患者的视系统同源盒1（VSX1）基因。
方法
我们对临床确诊的圆锥角膜患者（n = 55）和50名种族匹配的健康对照者的整个编码区、外显子 - 内含子边界进行了测序。所有病例和对照均无亲缘关系。
结果
对VSX1进行测序发现存在五个核苷酸变化，其中3个为非编码区变化（g.8326 G>A、g.10945 G>T和g.11059 A>C），2个为同义编码序列变化（g.5053 G>T和g.8222 A>G）。所有这五个序列变化均为良性多态性，无明显临床意义。
结论
在我们的圆锥角膜队列中，未发现致病性VSX1突变。
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本文引用的文献
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Keratoconus: a review.圆锥角膜：综述。
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Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.在圆锥角膜患者中未发现 VSX1 和 SOD1 基因的致病性突变。
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A novel VSX1 mutation identified in an individual with keratoconus in India.在印度一名圆锥角膜患者中发现的一种新型VSX1突变。
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