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

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dc.contributor.authorKumaramanickavel, Govindasamyen_US
dc.contributor.authorJoseph, Bijuen_US
dc.contributor.authorNarayana, Komaravellyen_US
dc.contributor.authorNatesh, Sribhargavaen_US
dc.contributor.authorMamatha, Gandraen_US
dc.contributor.authorShanmugam, Mahesh Pen_US
dc.contributor.authorElamparathi, Anuradhaen_US
dc.contributor.authorBiswas, Jyotirmayen_US
dc.date.accessioned2003-04-25en_US
dc.date.accessioned2009-06-02T07:15:24Z
dc.date.available2003-04-25en_US
dc.date.available2009-06-02T07:15:24Z
dc.date.issued2003-04-25en_US
dc.description.abstractEffective 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.en_US
dc.description.affiliationDepartment of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai 600 006, India. drgkm@sankaranethralaya.orgen_US
dc.identifier.citationKumaramanickavel 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): 39-44en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/114325
dc.language.isoengen_US
dc.source.urihttps://www.ias.ac.in/jgenet/index.htmlen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosomes, Human, Pair 13 --geneticsen_US
dc.subject.meshDNA --chemistryen_US
dc.subject.meshDNA Methylationen_US
dc.subject.meshDNA Mutational Analysisen_US
dc.subject.meshDNA Primersen_US
dc.subject.meshExonsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMutation --geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPromoter Regions, Genetic --geneticsen_US
dc.subject.meshRetinoblastoma --ethnologyen_US
dc.subject.meshRetinoblastoma Protein --geneticsen_US
dc.subject.meshSequence Deletionen_US
dc.titleMolecular-genetic analysis of two cases with retinoblastoma: benefits for disease management.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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