title: Activity of red cell esterase D in 50 cases of retinoblastoma patients and their family members.
abstract: Esterase D was qualitatively and quantitatively analyzed in the red blood cells from 50 retinoblastoma patients who had been followed-up at Juntendo University and their family. In only one case with deletion of chromosome No. 13 (q12.3-q21.2), was the esterase D activity (type 2) 1.47 Unit/gHb which was approximately 50% of the level in normals. Additional retinoblastoma patients and their family members, 77 parents and 25 siblings, showed a normal range of esterase D level in their own phenotypes. These facts confirmed that the deletion of an esterase D locus was infrequent (approximately 2% in our series) in retinoblastoma patients. It was also compatible with the published data that the range of deletion of chromosome was No. 13 (q12.3-q21.2) involving 13q14.
mesh_terms: D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000378:metabolism*; D004912:Erythrocytes / Q000201:enzymology*; D005134:Eye Neoplasms / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D012175:Retinoblastoma / Q000201:enzymology / Q000235:genetics*
chemical_list: D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human