Nejabat Mahmood, Naghash Payam, Dastsooz Hassan, Mohammadi Sanaz, Alipour Mohsen, Fardaei Majid
Department of Ophthalmology, Poostchi Eye Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
J Ophthalmic Vis Res. 2017 Apr-Jun;12(2):135-140. doi: 10.4103/jovr.jovr_97_16.
To investigate mutations of visual system homeobox 1 () and superoxide dismutase 1 () in 20 patients with keratoconus in the south of Iran.
Twenty patients with keratoconus who had a positive familial history were enrolled in this study and gave informed consent for DNA analysis. Genomic DNA was extracted from peripheral blood lymphocytes. Polymerase chain reaction (PCR) was carried out to amplify exon 2 of and its exon-intron boundary for the detection of a seven-base deletion in intron 2 of , and also all five exons of and their exon-intron boundaries. Amplified samples were then subjected to direct DNA sequencing.
Sequencing data were compared against reference sequences using NCBI basic local alignment search tool (BLAST), which revealed that our patients had no mutations in and . Two single-nucleotide polymorphisms (SNPs), namely in (rs58752432 and rs59089167) were found in six patients.
Mutations in and genes associated with keratoconus were not identified in our patients. Therefore, it will be necessary to investigate other chromosomal loci for potential causal mutations of keratoconus using next generation sequencing (NGS) methods in our population.
研究伊朗南部20例圆锥角膜患者的视觉系统同源盒1（VSX1）和超氧化物歧化酶1（SOD1）的突变情况。
本研究纳入20例有阳性家族史的圆锥角膜患者，并获得其DNA分析的知情同意书。从外周血淋巴细胞中提取基因组DNA。进行聚合酶链反应（PCR）以扩增VSX1的第2外显子及其外显子-内含子边界，用于检测VSX1第2内含子中的7个碱基缺失，同时扩增SOD1的所有5个外显子及其外显子-内含子边界。然后对扩增后的样本进行直接DNA测序。
使用美国国立生物技术信息中心（NCBI）的基本局部比对搜索工具（BLAST）将测序数据与参考序列进行比较，结果显示我们的患者在VSX1和SOD1中没有突变。在6例患者中发现了两个单核苷酸多态性（SNP），即SOD1中的（rs58752432和rs59089167）。
在我们的患者中未发现与圆锥角膜相关的VSX1和SOD1基因突变。因此我们有必要在我们的人群中使用下一代测序（NGS）方法研究其他染色体位点，以寻找圆锥角膜潜在的致病突变。
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