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مقالات فارسیISIکنفرانسهاژورنالها

Studying VSX۱ Gene Mutations in Patients with Keratoconus of Chaharmahal and Bakhtiari Province, Iran

محل انتشار: مجله دانشگاه علوم پزشکی کرمان، دوره: 20، شماره: 3
سال انتشار: 1392
نوع سند: مقاله ژورنالی
زبان: فارسی
مشاهده: 37

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استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:
https://civilica.com/doc/1929098

شناسه ملی سند علمی:

JR_JKMU-20-3_002

تاریخ نمایه سازی: 14 اسفند 1402

چکیده 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 ۱ in ۲۰۰۰ 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 VSX۱ in the etiology of KC. This study aimed to determine the frequency of mutations in exons ۲, ۴ of the VSX۱ gene in Chaharmahal and Bakhtiari province, Iran. Methods: In this experimental study, mutations in two exons including exons ۲ and ۴ of VSX۱ were investigated in ۵۰ 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: H۲۴۴R mutation was identified in exon ۴ of only one patient. Conclusion: Our investigation showed that the KC-related VSX۱ 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.

کلیدواژه ها:

نویسندگان

Fatemeh Azadegan Dehkordi

Postgraduate Student of Genetics, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrkord, Iran

A Rashki

Assistant Professor, Physiopathology Dep., Faculty of Veterinary Medicine, Zabol University, Zabol, Iran

N Bagheri

Ph.D. Student of Immunology, Tehran University of Medical Sciences, Tehran, Iran

M Hashemzadeh chaleshtari

Student of Medicine, Isfahan University of Medical Sciences, Tehran, Iran

E Memarzadeh

Assistant Professor of Ophthalmology, Shahrekord University of Medical Sciences, Isfahan, Iran

A Salehi

Assistant Professor of Ophthalmology, Shahrekord University of Medical Sciences, Isfahan, Iran

H GHatreh

Assistant Professor of Ophthalmology, Shahrekord University of Medical Sciences, Isfahan, Iran

S Heidari

Postgraduate Student of Genetics, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrkord, Iran

N Yazdan Panahi

Assistant Professor, Department of Biochemistry, Islamic Azad University, Falavarjan Branch, Isfahan, Iran

Z Rashki

Assistant Professor, Department of Microbiology & Parasitology, Faculty of Medicine, University of Zabol, Zabol, Iran

A Mirzaeyan

B.Sc. of Laboratory Sciences, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Sharhrekord, Iran

M Hashemzadeh CHaleshtari

Professor of Genetics, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran