Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management

Journal of genetics

Komaravelly Narayana²  Sribhargava Natesh³  Govindasamy Kumaramanickavel1²  Jyotirmay Biswas¹  Anuradha Elamparathi²  Biju Joseph²  Gandra Mamatha²  Mahesh P. Shanmugam³ 

[1] Department of Pathology, Medical Research Foundation, Sankara Nethralaya, Chennai 600 006, India$$;Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai 600 006, India$$;Department of Vitreo-Retinal Surgery, Sankara Nethralaya, Chennai 600 006, India$$

关键词: DNA sequencing;    gene methylation;    RB1 gene;    retinoblastoma.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

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.

【 授权许可】

Unknown