Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management.
No Thumbnail Available
Date
2003-04-25
Authors
Kumaramanickavel, Govindasamy
Joseph, Biju
Narayana, Komaravelly
Natesh, Sribhargava
Mamatha, Gandra
Shanmugam, Mahesh P
Elamparathi, Anuradha
Biswas, Jyotirmay
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
Citation
Kumaramanickavel G, Joseph B, Narayana K, Natesh S, Mamatha G, Shanmugam MP, Elamparathi A, Biswas J. Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management. Journal of Genetics. 2003 Apr-Aug; 82(1-2): 39-44