Azadegan Dehkordi, F. (2013) Study of VSX1 mutations in patients with keratoconous of Cheharmahal va Bakhtiari province using PCRSSCP/ HA and Sequencing. Masters thesis, university of zabol.
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Abstract
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, 3 and 4 of the VSX1gene in Chaharmahal va Bakhtiari province. In this experimental study, mutations in three exons including exons 2, 3 and 4 of VSX1 were investigated in 50 patients with KC. DNA was extracted using a standard phenol-chloroform method. PCR-SSCP/HA was performed, followed by DNA sequencing to confirm the identified motility shifts. H244R mutation and 12 polymorphisms were identified in patients: c.627 +23 G> A (NM_014588), rs6138482 and c.546A> G (rs12480307). Our investigation by Statistical test, Fisher Exact Test and p≤0.011 showed that the KC-related VSX1 mutations are found in very small samples in the studied patients from Chaharmahal va Bakhtiari province Further investigation on other genes are needed to clarify their roles in KC pathogenesis.
| Item Type: | Thesis (Masters) |
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| Uncontrolled Keywords: | Keratoconus, Gene VSX1, PCR-SSCP/HA, Sequencing |
| Subjects: | Q Science > QH Natural history > QH426 Genetics |
| Depositing User: | admin admin1 admin2 |
| Date Deposited: | 30 May 2017 08:15 |
| Last Modified: | 30 May 2017 08:15 |
| URI: | http://eprints.uoz.ac.ir/id/eprint/1413 |
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