Summary
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.
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This work was performed in the Clinical Genetics Division of Children's Hospital Medical Center. It was supported in part by NIH grants HD-04807, EY-07063-03, and EY-04543-01, and by The Children's Hospital Mental Retardation Center CORE grant HD-06276
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Dryja, T.P., Bruns, G.A.P., Gallie, B. et al. Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum Genet 64, 151–155 (1983). https://doi.org/10.1007/BF00327114
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DOI: https://doi.org/10.1007/BF00327114