A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma

@article{Parsam2009ACS,
  title={A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma},
  author={Vidya Latha Parsam and Chitra Kannabiran and Santosh G. Honavar and Geeta K Vemuganti and Mohammad Javed Ali},
  journal={Journal of Genetics},
  year={2009},
  volume={88},
  pages={517-527}
}
Retinoblastoma (Rb) is the most common primary intraocular malignancy in children. It is brought about by the mutational inactivation of both alleles of RB1 gene in the developing retina. To identify the RB1 mutations, we analysed 74 retinoblastoma patients by screening the exons and the promoter region of RB1. The strategy used was to detect large deletions/duplications by fluorescent quantitative multiplex PCR; small deletions/insertions by fluorescent genotyping of RB1 alleles, and point… 

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TLDR
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