title: Genetic study of red cell esterase D polymorphism by ultrathin layer isoelectric focusing. Distribution in the Veneto population (Italy).
abstract: Human red cell Esterase D (EsD) was analyzed by isoelectric focusing (IEF) on ultrathin-layer polyacrylamide gel with a pH range of 5.0-6.0. Hemolysates were treated with Dithiothreitol to avoid loss of activity and change of the isozyme patterns by in vitro storage effects. In our sample of 951 unrelated persons from Veneto, seven different phenotypes were observed. The following allele frequencies were calculated: EsD1 = 0.8476, EsD2 = 0.1336, EsD5 = 0.0178, and EsDV = 0.0010.
mesh_terms: D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology*; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D007558:Italy; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D007527:Isoenzymes; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human