| چکیده انگلیسی مقاله |
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. |
| نویسندگان مقاله |
فاطمه آزادگان دهکردی | azadegan dehkordi
postgraduate student of genetics, cellular amp;amp; molecular research center, shahrekord university of medical sciences, shahrkord, iran
a راشکی |
assistant professor, physiopathology dep., faculty of veterinary medicine, zabol university, zabol, iran
سازمان اصلی تایید شده: دانشگاه زابل (Zabol university)
n باقری |
ph.d. student of immunology, tehran university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
m هاشم زاده چالشتری | hashemzadeh chaleshtari
student of medicine, isfahan university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
e معمارزاده |
assistant professor of ophthalmology, shahrekord university of medical sciences, isfahan, iran
a صالحی |
assistant professor of ophthalmology, shahrekord university of medical sciences, isfahan, iran
h قطره |
assistant professor of ophthalmology, shahrekord university of medical sciences, isfahan, iran
s حیدری |
postgraduate student of genetics, cellular amp;amp; molecular research center, shahrekord university of medical sciences, shahrkord, iran
n یزدان پناهی | yazdan panahi
assistant professor, department of biochemistry, islamic azad university, falavarjan branch, isfahan, iran
سازمان اصلی تایید شده: دانشگاه آزاد اسلامی علوم و تحقیقات (Islamic azad university science and research branch)
z راشکی |
assistant professor, department of microbiology amp;amp; parasitology, faculty of medicine, university of zabol, zabol, iran
سازمان اصلی تایید شده: دانشگاه زابل (Zabol university)
a میرزاییان |
b.sc. of laboratory sciences, cellular amp;amp; molecular research center, shahrekord university of medical sciences, sharhrekord, iran
m هاشم زاده چالشتری | hashemzadeh chaleshtari
professor of genetics, cellular amp;amp; molecular research center, shahrekord university of medical sciences, shahrekord, iran
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