[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: F Munier, A Balmer, C von Moos, G Pescia, C Gailloud, G van Melle, F Thonney, A C Gaide, M J Allaz, H P Rutz
• Journal: Klinische Monatsblatter fur Augenheilkunde (Klin Monbl Augenheilkd) Vol. 198 Issue 5 Pg. 419-24 (May 1991) ISSN: 0023-2165 [Print] Germany
• Vernacular Title: Consultation Lausannoise du rétinoblastome, 1986-1990: déletions au locus de l'estérase D dans un collectif de 128 patients.
• PMID: 1886375 (Publication Type: Journal Article)

Chemical References

• Carboxylic Ester Hydrolases
• Carboxylesterase
• ESD protein, human

Topics

• Carboxylesterase
• Carboxylic Ester Hydrolases (genetics)
• Chromosome Deletion
• Chromosomes, Human, Pair 13
• Eye Neoplasms (diagnosis, genetics)
• Female
• Gene Frequency (genetics)
• Genetic Carrier Screening
• Genetic Testing
• Humans
• Male
• Phenotype
• Retinoblastoma (diagnosis, genetics)
• Switzerland