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The Study on RHO Gene Mutation of Sporadic Retinitis Pigmentosa

Author: WangJuan
Tutor: MaXiang
School: Dalian Medical University
Course: Ophthalmology
Keywords: Retinitis pigmentosa Sporadic RHO Gene mutation
CLC: R774.1
Type: Master's thesis
Year: 2011
Downloads: 35
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Abstract


Background:Retinitis pigmentosa（RP） is one of the most common ophthalmopathy, with permanent visual loss or even blindness as the ultimate consequence. High degree of genetic and clinical heterogeneity makes RP very complex. The mode of heritance can include autosomal dominant, autosomal recessive, X-linked, digenic and sporadic. It is estimated that about 150 million people have this disease in the world, including about 1/4 Chinese, with an increasing tendency. About 40-50 percent cases are distributed or single have no family history of disease, called sporadic retinitis pigmentosa（SRP）. So far, it has been confirmed that human RP gene mutations are up to more than 50, in which the rhodopsin（RHO） is the most extensively studied and the first to be discovered in the RP-related disease genes. To date over 100 RHO mutations have been identified. The report of sporadic retinitis pigmentosa patients with RHO mutation were reported at abroad very common, but the research about it is seldom in domestic.In view of the present study, patients with sporadic RP analysis of RHO gene tests to look forward to providing some meaningful clinical reference.Objective: The main aim of this paper is that we make a new rule for the pathogenesis and clinical classification of sporadic retinitis pigmentosa（SRP） by analyze the RHO gene in LiaoNing Province of China among patients with retinitis pigmentosa of sporadic mutations.Methods:（1）We recruited 28 patients with sporadic RP from clinic of our hospital from LiaoNing Province including 20 males and 8 females. The average age of patients is 43 years old distributing from 19 to 65. All patients in the genealogy by detailed investigation exclude non-sporadic cases. Another 30 normal individuals were acted as control group. Ophthalmic examinations included funduscopy, visual acuity, visual field and electroretinography （ERG） of all patients were performed.（2）We amplify five exons of RHO gene, reclaim and purify PCR products in order to measure sequence by extracting from the peripheral blood genomic DNA, combined polymerase chain reaction （PCR） method.（3） We measure sequence two sides of the each BP location by measuring the sequence of PCR products with DNA automatic apparatus which are compared with proper gene sequence in order to confirm the location and type of mutation.Results:（1）The collected case are sporadic retinitis pigmentosa according to the diagnostic standard.（2）The electrophoresis picture of genomic DNA and PCR products indicate that the form and luminance of genomic DNA and PCR products are satisfied the anticipated standard.（3）The all BP sequece of examined RHO gene are identical with NCBI（NM000539）. The significative mutation of the five exons of RHO gene are not found.Conclusion: In Liaoning Province of China, the rate of retinitis pigmentosa in the RHO gene mutation is low. The pathogenesis of sporadic RP is particularly complex and needs further research.

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CLC: > Medicine, health > Ophthalmology > Retina and optic nerve diseases > Retinal disease
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