Genetic study of red cell esterase D polymorphism by ultrathin layer isoelectric focusing. Distribution in the Veneto population (Italy). 1987

P Cortivo, and L Caenazzo, and C Crestani, and C Scoretti, and P Benciolini, and G Ongaro

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.

UI MeSH Term Description Entries
D007527 Isoenzymes Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics. Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D007558 Italy A country in southern Europe, a peninsula extending into the central Mediterranean Sea, northeast of Tunisia. The capital is Rome. Sardinia
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D002265 Carboxylic Ester Hydrolases Enzymes which catalyze the hydrolysis of carboxylic acid esters with the formation of an alcohol and a carboxylic acid anion. Carboxylesterases,Ester Hydrolases, Carboxylic,Hydrolases, Carboxylic Ester
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005828 Genetics, Population The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES. Population Genetics
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D043182 Carboxylesterase Carboxylesterase is a serine-dependent esterase with wide substrate specificity. The enzyme is involved in the detoxification of XENOBIOTICS and the activation of ester and of amide PRODRUGS. Ali-esterase,B-esterase,CAP-hydrolyzing Enzyme,Capsaicin-Hydrolyzing Enzyme,Carboxyesterase,Carboxylate Esterase,Carboxylester Lipase,Carboxylesterase B,Carboxylic Ester Hydrolase,Esterase 10,Esterase 13,Esterase 3,Esterase 6A,Esterase 8,Esterase ES-1A,Hydrolase S,Isocarboxazid amidase,Naproxen Esterase,Non-specific Carboxylesterase,Non-specific Esterase,Nonspecific Esterase,Procaine Esterase,Ali esterase,B esterase,CAP hydrolyzing Enzyme,Capsaicin Hydrolyzing Enzyme,Carboxylesterase, Non-specific,ES-1A, Esterase,Enzyme, CAP-hydrolyzing,Enzyme, Capsaicin-Hydrolyzing,Ester Hydrolase, Carboxylic,Esterase ES 1A,Esterase, Carboxylate,Esterase, Naproxen,Esterase, Non-specific,Esterase, Nonspecific,Esterase, Procaine,Hydrolase, Carboxylic Ester,Lipase, Carboxylester,Non specific Carboxylesterase,Non specific Esterase,amidase, Isocarboxazid

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