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Journal of Kerman University of Medical Sciences. 2013; 20 (6): 546-554
em Persa | IMEMR | ID: emr-193934

RESUMO

Background and 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

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