Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus
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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 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 کاملAnalysis of the VSX1 gene in sporadic keratoconus patients from China
BACKGROUND Keratoconus normally presents as a sporadic disease. Although different studies have found sequence variants of the visual system homeobox 1 (VSX1) gene associated with keratoconus in humans, no research has detected such variants in sporadic keratoconus patients from China. To investigate the possibility of VSX1 being a candidate susceptibility gene for Chinese patients with sporadi...
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: BMC Research Notes
سال: 2013
ISSN: 1756-0500
DOI: 10.1186/1756-0500-6-103