PubMed ID: 6885050
Author(s): Dryja TP, Bruns GA, Gallie B, Petersen R, Green W, Rapaport JM, Albert DM, Gerald PS. Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum Genet. 1983;64(2):151-5. PMID 6885050
Journal: Human Genetics, Volume 64, Issue 2, 1983
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.