title: [The polymorphism of human erythrocytic esterase D. Phenotype distribution and gene frequency in Northern Germany (Schleswig-Holstein); description of an Es D 4 family (author's transl)].
abstract: A good correlation between the actual phenotype distribution of esterase D and the expected distribution was found in the analysis of a random sample of 2028 unrelated persons, 54 umbilical cord blood samples, 406 mother/child comparisons, 24 family investigations, one fraternal and 32 identical twin investigations. The assume gene frequencies in Northern Germany were calculated for Es D1 =0.8935 and Es D2 =0.1065 for an aggregate sampling. Gene defects were not observed, and one family exhibited the variant Es D4 in the father (Es D 4--1) and son (Es D 4--2). Likewise, these phenotypes distinctly distinguish themselves by electrofocusing from the phenotypes Es D 1, Es D 2--1, and Es D 2.
mesh_terms: D004912:Erythrocytes / Q000201:enzymology*; D004950:Esterases / Q000097:blood*; D005787:Gene Frequency; D006801:Humans; D007525:Isoelectric Focusing; D008967:Molecular Biology; D010641:Phenotype
chemical_list: D004950:Esterases
vernacular_title: Polymorphismus der menschlichen Erythrozyten-Esterase D. Phänotypenverteilung und Genfrequenzen in Norddeutschland (Schleswig-Holstein); Beschreibung einer Familie mit Es D 4.