Genotype-phenotype correlation analysis in retinoblastoma patients from India.
Artigo
em Inglês
| IMSEAR
| ID: sea-37741
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Retinoblastoma
/
Índice de Gravidade de Doença
/
Feminino
/
Humanos
/
Masculino
/
Análise Mutacional de DNA
/
Reação em Cadeia da Polimerase
/
Predisposição Genética para Doença
/
Genótipo
Tipo de estudo:
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
2006
Tipo de documento:
Artigo
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