期刊论文详细信息
Journal of genetics
RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases
Anuradha Srinivasan1  Govindasamy Kumaramanickavel11  Satagopan Uthra1  Nagasamy Soumittra1  Nitin Shridhara Shetty2  Biju Joseph1  Authiappan Vidhya1 
[1] Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India$$;Department of Medical Retina, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India$$
关键词: RPE65;    multiplex PCR;    retinal degenerative disease.;   
DOI  :  
学科分类:生物科学(综合)
来源: Indian Academy of Sciences
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【 摘 要 】

We used multiplex PCR followed 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.

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