Journal of Genetics

, Volume 81, Issue 1, pp 19–23

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

Authors

  • Biju Joseph
    • Department of Genetics and Molecular Biology, Medical and Vision Research FoundationsSankara Nethralaya
  • Anuradha Srinivasan
    • Department of Genetics and Molecular Biology, Medical and Vision Research FoundationsSankara Nethralaya
  • Nagasamy Soumittra
    • Department of Genetics and Molecular Biology, Medical and Vision Research FoundationsSankara Nethralaya
  • Authiappan Vidhya
    • Department of Genetics and Molecular Biology, Medical and Vision Research FoundationsSankara Nethralaya
  • Nitin Shridhara Shetty
    • Department of Medical Retina, Medical and Vision Research FoundationsSankara Nethralaya
  • Satagopan Uthra
    • Department of Genetics and Molecular Biology, Medical and Vision Research FoundationsSankara Nethralaya
    • Department of Genetics and Molecular Biology, Medical and Vision Research FoundationsSankara Nethralaya
Article

DOI: 10.1007/BF02715866

Cite this article as:
Joseph, B., Srinivasan, A., Soumittra, N. et al. J Genet (2002) 81: 19. doi:10.1007/BF02715866

Abstract

We used multiplex PCR followed by sequencing to screen for mutations in the 14 exons of theRPE65 gene in early-hildhood-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 bede novo. Though a larger study has been undertaken, from the preliminary results it appears that in India theRPE65 gene seems to be less involved in causation of LCA.

Keywords

RPE65multiplex PCRretinal degenerative disease

Copyright information

© Indian Academy of Sciences 2002