• Fulltext

       

        Click here to view fulltext PDF


      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/082/01-02/0039-0044

    • Keywords

       

      DNA sequencing; gene methylation; RB1 gene; retinoblastoma

    • Abstract

       

      Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of the world. We studied histopathological, chromosomal and molecular-genetic data of two retinoblastoma patients from India. The two patients, one with bilateral and the other with unilateral retinoblastoma, underwent complete ophthalmic examination, cytogenetic study, retinoblastoma gene (RB1) mutational analysis andRB1 promoter region methylation screening. In the bilateral retinoblastoma patient deletion of chromosome region 13q14 in peripheral blood lymphocytes and a hemizygous novel 8-bp deletion in exon 4 ofRB1 in tumour sample were observed. In the unilaterally affected patient CGA to TGA transition protein truncation mutations were observed in exons 8 and 14 ofRB1.

    • Author Affiliations

       

      Govindasamy Kumaramanickavel1 Biju Joseph1 Komaravelly Narayana1 Sribhargava Natesh2 Gandra Mamatha1 Mahesh P. Shanmugam2 Anuradha Elamparathi1 Jyotirmay Biswas3

      1. Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai - 600 006, India
      2. Department of Vitreo-Retinal Surgery, Medical Research Foundation, Sankara Nethralaya, Chennai - 600 006, India
      3. Department of Pathology, Medical Research Foundation, Sankara Nethralaya, Chennai - 600 006, India
    • Dates

       
  • Journal of Genetics | News

    • Editorial Note on Continuous Article Publication

      Posted on July 25, 2019

      Click here for Editorial Note on CAP Mode

© 2021-2022 Indian Academy of Sciences, Bengaluru.