Low incidence of deletion of the esterase D locus in retinoblastoma patients.

Abstract

Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the esterase D gene to chromosome band 13q14, a region which is important in the etiology of retinoblastoma. Fifty-one additional retinoblastoma patients not known to have any chromosomal defect also underwent esterase D determination. In none of these patients did the esterase D measurement detect a 13q14 deletion. The normal esterase D levels in this series of 51 retinoblastoma patients suggest that deletion of an esterase D locus is infrequent in retinoblastoma patients. It must be noted that patients who are mosaics, with a 13q14 deletion in only a fraction of all somatic cells, could possibly have normal red blood cell esterase D levels. Further study is necessary to determine if esterase D determination of all retinoblastoma patients is a worthwhile clinical tool.

• Authors: T P Dryja, G A Bruns, B Gallie, R Petersen, W Green, J M Rapaport, D M Albert, P S Gerald
• Journal: Human genetics (Hum Genet) Vol. 64 Issue 2 Pg. 151-5 ( 1983) ISSN: 0340-6717 [Print] Germany
• PMID: 6885050 (Publication Type: Comparative Study, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Isoenzymes
• Carboxylic Ester Hydrolases
• Carboxylesterase
• ESD protein, human

Topics

• Adolescent
• Adult
• Carboxylesterase
• Carboxylic Ester Hydrolases (blood, genetics)
• Child
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, 13-15 (ultrastructure)
• Eye Neoplasms (enzymology, genetics)
• Female
• Humans
• Infant
• Isoenzymes (blood, genetics)
• Male
• Middle Aged
• Retinoblastoma (enzymology, genetics)
• Trisomy