Repository of Research and Investigative Information

Repository of Research and Investigative Information

Baqiyatallah University of Medical Sciences

Evaluating the association of VSX1 mutation with keratoconus and the granular corneal dystrophy in an Iranian family

(2017) Evaluating the association of VSX1 mutation with keratoconus and the granular corneal dystrophy in an Iranian family. International Eye Science. pp. 1023-1027. ISSN 16725123 (ISSN)

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Abstract

AIM: To evaluate association between mutations in the visual system homeobox 1 (VSX1) gene and keratoconus (KCN) complicated with granular corneal dystrophy (GCD), direct sequencing was performed in an Iranian family affected by KCN and GCD in four generations. METHODS: An Iranian pedigree with keratoconus spanning four generations along with GCD was identified. Whole blood sample was used for genomic DNA extraction. The molecular analysis by using polymerase chain reaction (PCR) of the entire coding region and intron-exon boundaries of VSX1 gene was preformed to investigate the possible linkage between KCN and GCD. Subsequently, direct sequencing was used for PCR products and mutation analysis was conducted in the patients and controls. RESULTS: Mutation analysis in VSX1 gene did not detect evidence for association between KCN and GCD diseases and VSX1 gene. Our data excluded VSX1 as the disease-causing gene for KCN/GCD in this specific pedigree. CONCLUSION: Despite of no association between KCN patients with GCD and VSX1 gene variations, other probable genes involved in pathogenesis of the KCN and GCD diseases need to be investigated in the patients. Copyright 2017 by the IJO Press.

Item Type: Article
Keywords: Granular corneal dystrophy Iranian family Keratoconus Mutation Polymerase chain reaction Visual system homeobox biological marker genomic DNA unclassified drug visual system homeobox 1 protein Article blood sampling clinical article controlled study cornea dystrophy disease association exon female gene mutation genetic association genetic linkage human intron male nucleotide sequence slit lamp microscopy
Divisions:
Page Range: pp. 1023-1027
Journal or Publication Title: International Eye Science
Journal Index: Scopus
Volume: 17
Number: 6
Identification Number: https://doi.org/10.3980/j.issn.1672-5123.2017.6.04
ISSN: 16725123 (ISSN)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.bmsu.ac.ir/id/eprint/177

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