RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.

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dc.contributor.authorJoseph, Bijuen_US
dc.contributor.authorSrinivasan, Anuradhaen_US
dc.contributor.authorSoumittra, Nagasamyen_US
dc.contributor.authorVidhya, Authiappanen_US
dc.contributor.authorShetty, Nitin Sridharaen_US
dc.contributor.authorUthra, Satagopanen_US
dc.contributor.authorKumaramanickavel, Govindasamyen_US
dc.date.accessioned2002-04-03en_US
dc.date.accessioned2009-06-02T07:22:13Z
dc.date.available2002-04-03en_US
dc.date.available2009-06-02T07:22:13Z
dc.date.issued2002-04-03en_US
dc.description.abstractWe used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients. The RPE65 protein is believed to play an important role in the metabolism of vitamin A in the visual cycle and mutations identified in the gene could have implications for vitamin A-based therapeutic intervention. We were able to identify a homozygous mutation (AAT --> AAG) in exon 9 in an arRP patient and a heterozygous missense transversion (AAT --> AAG) also in exon 9 of an LCA patient. We also identified a polymorphism in exon 10 (GAG --> GAA) in an arRP as well as an LCA patient. Mutation screening would be greatly facilitated by multiplex PCR which could cut down costs, labour and time involved. The nucleotide changes observed in this study could be de novo. Though a larger study has been undertaken, from the preliminary results it appears that in India the RPE65 gene seems to be less involved in causation of LCA.en_US
dc.description.affiliationDepartment of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India.en_US
dc.identifier.citationJoseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty NS, Uthra S, Kumaramanickavel G. RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases. Journal of Genetics. 2002 Apr; 81(1): 19-23en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/114406
dc.language.isoengen_US
dc.source.urihttps://www.ias.ac.in/jgenet/index.htmlen_US
dc.subject.meshCarrier Proteinsen_US
dc.subject.meshDNA Mutational Analysisen_US
dc.subject.meshEye Proteinsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Screeningen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshMaleen_US
dc.subject.meshOptic Atrophy, Hereditary, Leber --geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshProteins --geneticsen_US
dc.subject.meshRetinitis Pigmentosa --geneticsen_US
dc.titleRPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.en_US
dc.typeJournal Articleen_US
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