| Literature DB >> 14631101 |
Govindasamy Kumaramanickavel1, Biju Joseph, Komaravelly Narayana, Sribhargava Natesh, Gandra Mamatha, Mahesh P Shanmugam, Anuradha Elamparathi, Jyotirmay Biswas.
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 and RB1 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 of RB1 in tumour sample were observed. In the unilaterally affected patient CGA to TGA transition protein truncation mutations were observed in exons 8 and 14 of RB1.Entities:
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Year: 2003 PMID： 14631101 DOI： 10.1007/bf02715880
Source DB: PubMed Journal: J Genet ISSN： 0022-1333 Impact factor: 1.166