title: [Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients].
abstract: 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.
authors.affiliation: Hôpital Ophthalmique Universitaire Jules Gonin, Lausanne.
authors.forename: F
authors.initials: F
authors.lastname: Munier
authors.forename: A
authors.initials: A
authors.lastname: Balmer
authors.forename: C
authors.initials: C
authors.lastname: von Moos
authors.forename: G
authors.initials: G
authors.lastname: Pescia
authors.forename: C
authors.initials: C
authors.lastname: Gailloud
authors.forename: G
authors.initials: G
authors.lastname: van Melle
authors.forename: F
authors.initials: F
authors.lastname: Thonney
authors.forename: A C
authors.initials: AC
authors.lastname: Gaide
authors.forename: M J
authors.initials: MJ
authors.lastname: Allaz
authors.forename: H P
authors.initials: HP
authors.lastname: Rutz
mesh_terms: D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010641:Phenotype; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*; D013557:Switzerland
chemical_list: D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human
vernacular_title: Consultation Lausannoise du rétinoblastome, 1986-1990: déletions au locus de l'estérase D dans un collectif de 128 patients.