Consultation Lausannoise du retinoblastome, 1986-1990: deletions au locus de l'esterase D dans un collectif de 128 patients. [Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients]

Détails

ID Serval
serval:BIB_8F580DDA59F6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Consultation Lausannoise du retinoblastome, 1986-1990: deletions au locus de l'esterase D dans un collectif de 128 patients. [Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients]
Périodique
Klinische Monatsblatter fur Augenheilkunde
Auteur(s)
Munier  F., Balmer  A., von Moos  C., Pescia  G., Gailloud  C., van Melle  G., Thonney  F., Gaide  A. C., Allaz  M. J., Rutz  H. P., Bachmann  C.
ISSN
0023-2165 (Print)
Statut éditorial
Publié
Date de publication
05/1991
Volume
198
Numéro
5
Pages
419-24
Notes
English Abstract Journal Article --- Old month value: May
Résumé
Activity and phenotype of red blood cell esterase D were systematically determined in a population of 128 retinoblastoma patients from 99 families and compared to 158 controls, in order to detect a chromosome 13q14 deletion. Among these patients 12 were healthy carriers and 116 affected carriers of a mutant allele of the retinoblastoma susceptibility gene (110 retinoblastoma, 5 retinoma, 1 phtisis bulbi). 4 patients were found to have decreased ESD levels in connection with 13q14 deletion which was confirmed by chromosome analysis. The data presented here suggest that ESD quantification has a high specificity and sensitivity for the detection of homogenous chromosome 13 deletions in retinoblastoma patients.
Mots-clé
*Carboxylesterase Carboxylic Ester Hydrolases/*genetics *Chromosome Deletion *Chromosomes, Human, Pair 13 Eye Neoplasms/diagnosis/*genetics Female Gene Frequency/genetics Genetic Screening *Heterozygote Detection Humans Male Phenotype Retinoblastoma/diagnosis/*genetics Switzerland
Pubmed
Web of science
Création de la notice
28/01/2008 13:54
Dernière modification de la notice
03/03/2018 19:21
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