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http://dx.doi.org/10.5734/JGM.2013.10.1.13

Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation  

Yoon, Chang Ki (Department of Ophthalmology, Seoul National University College of Medicine)
Yu, Hyeong Gon (Department of Ophthalmology, Seoul National University College of Medicine)
Publication Information
Journal of Genetic Medicine / v.10, no.1, 2013 , pp. 13-19 More about this Journal
Abstract
Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by various genetic variants. Since the first discovery of the causal mutation in the RHO gene using positional cloning, numerous mutations have been detected in more than 60 loci and 50 genes. However, causal genes have not been discovered in about 50% of cases. We attempt here to review the strategies to identify causal alleles of retinitis pigmentosa. These include conventional methods as well as state-of-the-art technologies based on next-generation sequencing.
Keywords
Retinitis pigmentosa; RHO gene; Next-generation sequencing;
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