Summary
Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed as deletion carriers. These observations demonstrate the benefit of screening retinoblastoma populations for esterase D deficiency.
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References
Cowell JK (1985) Tracking the cancer genes in paediatric predisposition syndromes: opportunities for prenatal diagnosis. Cancer Surveys 3:573–601
Drabkin DL, Austin JH (1935) Spectrophotometric studies. II. Preparation from washed blood cells, nitric oxide haemoglobin and sulfhaemoglobin. J Biol Chem 112:51–65
Dryja TP, Bruns GAP, Gallie B, Petersen R, Green W, Rapaport JM, Albert DM, Gerald PS (1983) Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum Genet 64:151–155
Dryja TP, Cavenee W, White R, Rapaport JM, Petersen R, Albert DM, Bruns GAP (1984) Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med 310:550–553
Hopkinson DA, Mestriner MA, Cortner J, Harris H (1973) Esterase-D: a new human polymorphism. Ann Hum Genet 37:119–137
Horai S, Matsunaga E (1984) Differential enzyme activities in human esterase D phenotypes. Hum Genet 66:168–170
Knudson AG (1971) Mutations and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820–823
Matsunaga E (1980) Retinoblastoma. Host resistance and 13q− chromosome deletion. Hum Genet 56:53–58
Sparkes RS, Targum S, Gershon E, Sensabaugh GF, Sparkes MC, Crist M (1979) Evidence for a null allele at the esterase D (E.C. 3.1.1.1) locus. Hum Genet 46:319–323
Sparkes RS, Sparkes MC, Wilson MG, Towner JW, Benedict W, Murphree AL, Yunis JJ (1980) Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 208:1042–1044
Sparkes RS, Murphree AL, Lingua RW, Sparkes MC, Field LL, Funderburk SJ, Benedict WF (1983) Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science 219:971–973
Sparkes RS, Sparkes MC, Kalina RE, Pagon RA, Salk DJ, Disteche CM (1984) Separation of retinoblastoma and esterase-D loci in a patient with sporadic retinoblastoma and del (13)(q14.1q22.3). Hum Genet 68:258–259
Vogel F (1979) Genetics of retinoblastoma. Hum Genet 52:1–54
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Cowell, J.K., Rutland, P., Jay, M. et al. Deletions of the esterase D locus from a survey of 200 retinoblastoma patients. Hum Genet 72, 164–167 (1986). https://doi.org/10.1007/BF00283938
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DOI: https://doi.org/10.1007/BF00283938