圆锥角膜中VSX1基因分析
VSX1 gene analysis in keratoconus.
作者信息
Tanwar Mukesh, Kumar Manoj, Nayak Bhagabat, Pathak Dhananjay, Sharma Namrata, Titiyal Jeewan S, Dada Rima
机构信息
Laboratory For Molecular Reproduction and Genetics, Department of Anatomy, Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
出版信息
Mol Vis. 2010 Nov 16;16:2395-401.
PURPOSE
To screen the visual system homeobox 1 (VSX1) gene in keratoconus patients.
METHODS
The enntire coding region of VSX1, including intron-exon boundaries were amplified in keratoconus cases (n=50) and controls (n=50). All sequences were analyzed against the ensemble sequence (ENSG00000100987) for VXS1.
RESULTS
Sequencing analysis showed four alterations (p.A182A, p.R217H, p.P237P, and g.25059612C>T) in VSX1 of which g.25059612C>T (in intron 2) was found to be novel. Of these four, p.A182A and p.P237P were present in both cases as well as controls while p.R217H and g.25059612C>T were limited to cases only. All these changes were non-pathogenic.
CONCLUSIONS
In our study no pathogenic VSX1 mutation was identified. The role of VSX1 in the pathogenesis of keratoconus is still controversial. VSX1 mutations are responsible for a very small fraction of all observed keratoconus cases. The absence of pathogenic mutations in VSX1 in our patients indicates that other genetic loci like 13q32 as suggested by a recent study may be involved in the pathogenesis of this disorder.
目的
对视锥角膜患者的视觉系统同源盒1（VSX1）基因进行筛查。
方法
在50例圆锥角膜患者和50例对照者中扩增VSX1的整个编码区，包括内含子-外显子边界。所有序列均与VSX1的整体序列（ENSG00000100987）进行比对分析。
结果
测序分析显示VSX1有四处改变（p.A182A、p.R217H、p.P237P和g.25059612C>T），其中g.25059612C>T（位于内含子2）被发现是新的。在这四处改变中，p.A182A和p.P237P在患者和对照者中均存在，而p.R217H和g.25059612C>T仅见于患者。所有这些改变均无致病性。
结论
在我们的研究中未发现致病性VSX1突变。VSX1在圆锥角膜发病机制中的作用仍存在争议。VSX1突变仅占所有观察到的圆锥角膜病例的极小部分。我们患者中未发现VSX1致病性突变，这表明最近一项研究提出的其他基因位点如13q32可能参与了该疾病的发病机制。
Zotero 插件