Genotype-phenotype correlation analysis in retinoblastoma patients from India.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Phénotype
/
Rétinoblastome
/
Indice de gravité de la maladie
/
Femelle
/
Humains
/
Mâle
/
Analyse de mutations d'ADN
/
Réaction de polymérisation en chaîne
/
Prédisposition génétique à une maladie
/
Génotype
Type d'étude:
Facteurs de risque
Pays comme sujet:
Asie
langue:
Anglais
Année:
2006
Type:
Article
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