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.
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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)
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Chemical References |
- Carboxylic Ester Hydrolases
- Carboxylesterase
- ESD protein, human
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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
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