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

T. P. Dryja, G. A.P. Bruns, B. Gallie, R. Petersen, W. Green, J. M. Rapaport, D. M. Albert, P. S. Gerald

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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 13q 14, 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 13q 14 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.

Original languageEnglish (US)
Pages (from-to)151-155
Number of pages5
JournalHuman genetics
Issue number2
StatePublished - Aug 1983
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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