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:: Volume 26, Issue 2 (Iranian Journal of Ophthalmology 2014) ::
2014, 26(2): 111-115 Back to browse issues page
A Study on X-Linked Retinitis Pigmentosa and Its Molecular Diagnosis
Gholamreza Nourzad Dr., Mahnaz Baghershiroodi *
, shiroodi33@yahoo.com
Abstract:   (3923 Views)

Purpose: Retinitis pigmentosa (RP) is a hereditary eye disease in human beings. It commences at childhood and continues by Nyctalopia and gradual reduction of visual field and ends up by blindness. It may be inherited in three forms of autosomal dominant, autosomal recessive and sex-linked. In this investigation we intend to study RP type as a sex-linked disease and its location on X chromosome.

Case report: Upon blood taking and extraction of DNA by the use of PCR method, it was possible reproduce RPGR gene. Then the PCR product was subject to electrophoresis on Agarose Gel. 

Results: The patient is a 12-year-old and blind boy with Ataxia. The diagnosis was RP3. We found a mutation in Exon No. 5 of RPGR gene related to regulating GTPase enzyme through which TCA code of Serine Amino Acid is replaced with TTA code of Aminoacid Lysine. As a result there will be a change in protein chain with further disorders in GTPase function.

Conclusion: The mutation in Exon No. 5 of RPGR gene causing a change in protein chain and disorders in GTPase function.

 

 Iranian Journal of Ophthalmology 201426(2):111-5 © 2014 by the Iranian Society of Ophthalmology
Keywords: X-Linked Retinitis Pigmentosa, RPGR Gene, RP3, Blindness, Nyctalopia
Full-Text [PDF 361 kb]   (1085 Downloads)    
Type of Study: Case report | Subject: Vitreoretinal
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Nourzad G, Baghershiroodi M. A Study on X-Linked Retinitis Pigmentosa and Its Molecular Diagnosis. Iranian Journal of Ophthalmology. 2014; 26 (2) :111-115
URL: http://irjo.org/article-1-955-en.html
Volume 26, Issue 2 (Iranian Journal of Ophthalmology 2014) Back to browse issues page
مجله چشم پزشکی ایران Iranian Journal of Ophthalmology
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