Studying VSX1 gene mutations in patients with Keratoconus of Chaharmahal and Bakhtiari province, Iran

Azadegan-Dehkordi, Fatemeh. and Rashki, Ahmad. and Bagheri, Nader. and Hashemzadeh-Chaleshtori, Minoo. and Memarzadeh, Ezzatollah. and Salehi, Ali. and Ghatreh, Homan. and Hydari, Soraya. and Yazdanpanahi, Nasrin. and Rashki Ghalehnoo, Zahra. and Merzaeyan, Amin. and Hashemzadeh-Ghalehstori, Morteza. (2013) Studying VSX1 gene mutations in patients with Keratoconus of Chaharmahal and Bakhtiari province, Iran. Journal of Kerman University of Medical Sciences, 20 (6). pp. 546-554.


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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 role for VSX1 in the etiology of KC. This study aimed to determine the frequency of mutations in exons 2, 4 of the VSX1 gene in Chaharmahal and Bakhtiari province, Iran. Methods: In this experimental study, mutations in two exons including exons 2 and 4 of VSX1 were investigated in 50 patients with KC. DNA was extracted using a standard phenol-chloroform method. PCRSSCP/ HA was performed, followed by DNA sequencing to confirm the identified motility shift. Results: H244R mutation was identified in exon 4 of only one patient. Conclusion: Our investigation showed that the KC-related VSX1 mutations are found in very small samples in the study subjects from Iran. Further investigations on other genes are needed to clarify their roles in KC pathogenesis.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: article; clinical article; DNA extraction; DNA sequence; exon; gene; gene frequency; gene mutation; human; Iran; keratoconus; polymerase chain reaction; single strand conformation polymorphism; VSX1 gene
Subjects: WW Ophthalmology
QU Biochemistry > Cell biology and genetics
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: Users 1 not found.
Date Deposited: 08 Aug 2017 07:21
Last Modified: 23 Jul 2018 04:51

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