Biblioteca Virtual en Salud

Hipertensión

Home > Búsqueda > ()

XML

| |

Genotype-phenotype correlation analysis in retinoblastoma patients from India.

Joseph, Biju; Raman, Rajiv; Uthra, Satagopan; Jagadeesan, Madhavan; Ganesh, Anuradha; Paul, Pradeep G; Sharma, Tarun; Kumaramanickavel, Govindasamy.

Artículo en Inglés | IMSEAR | ID: sea-37741

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.

Asunto(s)

Análisis Mutacional de ADN Femenino Predisposición Genética a la Enfermedad Genotipo Humanos India/epidemiología Masculino Fenotipo Reacción en Cadena de la Polimerasa Retinoblastoma/epidemiología Índice de Severidad de la Enfermedad