Molecular analysis and predictive testing in retinoblastoma.
Ophthalmic Genet
; 16(4): 135-42, 1995 Dec.
Article
en En
| MEDLINE
| ID: mdl-8749049
Predictive testing using molecular analysis is an integral part of contemporary retinoblastoma management. We have made extensive use of segregation analysis for risk assessment in both familial and sporadic disease. Investigation of loss of heterozygosity in tumor samples proved to be invaluable for the identification of linkage phase. In many families, however, accurate carrier risk assessment depends on direct identification of the causative R B I mutation. Consequently, we have developed methods for rapid mutation screening. Using these techniques, mutation analysis can now be offered to an increasing number of individuals.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retinoblastoma
/
Análisis Mutacional de ADN
/
Neoplasias del Ojo
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
1995
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Reino Unido