Joseph, BijuRaman, RajivUthra, SatagopanJagadeesan, MadhavanGanesh, AnuradhaPaul, Pradeep GSharma, TarunKumaramanickavel, Govindasamy2009-05-272009-05-272006-10-26Joseph B, Raman R, Uthra S, Jagadeesan M, Ganesh A, Paul PG, Sharma T, Kumaramanickavel G. Genotype-phenotype correlation analysis in retinoblastoma patients from India. Asian Pacific Journal of Cancer Prevention. 2006 Oct-Dec; 7(4): 619-22http://imsear.searo.who.int/handle/123456789/37741Asian Pacific Journal of Cancer Prevention.BACKGROUND: Genetic analysis has a beneficial impact on retinoblastoma management enabling definite risk assessment. However, information regarding genotype-phenotype correlation in retinoblastoma is limited. AIM: To analyze the retinoblastoma susceptibility gene for mutations in retinoblastoma patients and correlate the genotypes the phenotypes. METHODOLOGY: Eleven retinoblastoma patients, who underwent molecular genetic studies were classified into high, moderate or low disease severity groups based on phenotype. RESULTS: Seven patients had high disease severity and four moderate disease severity. Eleven truncating mutations were detected; six were in the N-terminus region of the retinoblastoma protein and two in the A/B pocket (p=0.03). CONCLUSIONS: No significant association between mutation type and disease severity could be established in the present study. However a positive correlation between location of the mutations in certain domains of the retinoblastoma protein and disease severity was observed. To the best of our knowledge this is the first genotype-phenotype correlation study in retinoblastoma patients from India.engDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenotypeHumansIndia --epidemiologyMalePhenotypePolymerase Chain ReactionRetinoblastoma --epidemiologySeverity of Illness IndexJournal Article