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, Daniel Albert, P. S. Gerald

Research output: Contribution to journalArticle

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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 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
Volume64
Issue number2
DOIs
StatePublished - Aug 1 1983
Externally publishedYes

Fingerprint

Retinoblastoma
Incidence
Chromosomes, Human, Pair 13
Erythrocytes
s-formylglutathione hydrolase
Chromosomes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Dryja, T. P., Bruns, G. A. P., Gallie, B., Petersen, R., Green, W., Rapaport, J. M., ... Gerald, P. S. (1983). Low incidence of deletion of the esterase D locus in retinoblastoma patients. Human genetics, 64(2), 151-155. https://doi.org/10.1007/BF00327114

Low incidence of deletion of the esterase D locus in retinoblastoma patients. / Dryja, T. P.; Bruns, G. A.P.; Gallie, B.; Petersen, R.; Green, W.; Rapaport, J. M.; Albert, Daniel; Gerald, P. S.

In: Human genetics, Vol. 64, No. 2, 01.08.1983, p. 151-155.

Research output: Contribution to journalArticle

Dryja, TP, Bruns, GAP, Gallie, B, Petersen, R, Green, W, Rapaport, JM, Albert, D & Gerald, PS 1983, 'Low incidence of deletion of the esterase D locus in retinoblastoma patients', Human genetics, vol. 64, no. 2, pp. 151-155. https://doi.org/10.1007/BF00327114
Dryja TP, Bruns GAP, Gallie B, Petersen R, Green W, Rapaport JM et al. Low incidence of deletion of the esterase D locus in retinoblastoma patients. Human genetics. 1983 Aug 1;64(2):151-155. https://doi.org/10.1007/BF00327114
Dryja, T. P. ; Bruns, G. A.P. ; Gallie, B. ; Petersen, R. ; Green, W. ; Rapaport, J. M. ; Albert, Daniel ; Gerald, P. S. / Low incidence of deletion of the esterase D locus in retinoblastoma patients. In: Human genetics. 1983 ; Vol. 64, No. 2. pp. 151-155.
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