VSX1 and SOD1 mutation screening in patients with keratoconus
نویسندگان
چکیده
منابع مشابه
VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran
PURPOSE To investigate mutations of visual system homeobox 1 (VSX1) and superoxide dismutase 1 (SOD1) in 20 patients with keratoconus in the south of Iran. METHODS 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 (PC...
متن کاملMutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus
PURPOSE To evaluate mutations in the visual system homeobox gene 1 (VSX1) and superoxide dismutase 1 (SOD1) genes with keratoconus (KTCN), direct sequencing was performed in an Iranian population. METHODS One hundred and twelve autosomal dominant KTCN patients and fifty-two unaffected individuals from twenty-six Iranian families, as well as one hundred healthy people as controls were enrolled...
متن کاملMutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus
PURPOSE To evaluate the involvement of Visual System Homeobox 1 (VSX1), Secreted Protein Acidic and Rich in Cysteine (SPARC), Superoxide Dismutase 1 (SOD1), Lysyl Oxidase (LOX), and Tissue Inhibitor of Metalloproteinase 3 (TIMP3) in sporadic and familial keratoconus. METHODS Mutational analysis of the five genes was performed by sequencing and fragment analysis in a large cohort of 302 Italia...
متن کاملStudying VSX1 Gene Mutations in Patients with Keratoconus of Chaharmahal and Bakhtiari Province, Iran
Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major rol...
متن کاملVSX1 gene analysis in keratoconus
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...
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ژورنال
عنوان ژورنال: Journal of Ophthalmic and Vision Research
سال: 2018
ISSN: 2008-322X
DOI: 10.4103/jovr.jovr_135_17