Applications cliniques du diagnostic moleculaire du retinoblastome dans 15 familles. [Clinical applications of molecular diagnosis of retinoblastoma ain 15 families]

Détails

ID Serval
serval:BIB_CBF1C5322D9A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Applications cliniques du diagnostic moleculaire du retinoblastome dans 15 familles. [Clinical applications of molecular diagnosis of retinoblastoma ain 15 families]
Périodique
Klinische Monatsblatter fur Augenheilkunde
Auteur(s)
Lendi  B., Pescia  G., Thonney  F., Balmer  A., Munier  F.
ISSN
0023-2165 (Print)
Statut éditorial
Publié
Date de publication
05/1995
Volume
206
Numéro
5
Pages
336-8
Notes
English Abstract
Journal Article --- Old month value: May
Résumé
PURPOSE: In 40% retinoblastoma (Rb) results from a hereditary mutation of the Rb susceptibility gene (RB1). In this study, we tested the usefulness of intragenic DNA analysis for ophthalmologic follow-up in affected families. METHODS: Molecular analysis was performed on 103 DNA samples of 15 Rb families. We used 7 intragenic polymorphic markers and one within the ESD gene for mutation linkage analysis. FINDINGS: DNA analysis was informative in 88% of relatives at risk of developing Rb. Among them, the presence of a mutated RB1 allele was excluded in 46%, while 29% were unaffected carriers and 25% had inherited the Rb predisposition. CONCLUSION: In the majority of familial Rb, the DNA analysis allows the identification of children carrying a RB1 mutation and who will need a close ophthalmologic follow-up under general anesthesia. When the mutated gene is absent, ophthalmological examination under narcosis is unnecessary. Finally, identification of asymptomatic carriers improve the accuracy of genetic counselling.
Mots-clé
Adult Alleles Child DNA Mutational Analysis Eye Neoplasms/diagnosis/*genetics/prevention & control Female Genetic Counseling Heterozygote Detection Humans Infant Male Pedigree Polymorphism, Restriction Fragment Length Retinoblastoma/diagnosis/*genetics/prevention & control Risk Factors
Pubmed
Web of science
Création de la notice
28/01/2008 13:54
Dernière modification de la notice
20/08/2019 16:46
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