title: Genetic polymorphism of human peptidase C, PEPC (E.C.3.4.1.1): formal genetic and population data.
abstract: Human peptidase C, PEPC (E.C.3.4.1.1), exhibits a previously undescribed genetic polymorphism, detectable in red cells or leukocytes by starch gel electrophoresis. Segregation analyses on 161 families with 469 offspring support the formal genetic hypothesis of two codominant alleles at an autosomal locus. Since four rare variants have previously been described, we named the polymorphic allele PEPC*6. Gene frequencies from southwestern Germany were PEPC*1 = 0.721 +/- 0.018; PEPC*6 = 0.276 +/- 0.018, and PEPC*R = 0.003 +/- 0.002.
authors.affiliation: Institut für Anthropologie und Humangenetik Universität, Tübingen, Federal Republic of Germany.
authors.forename: J
authors.initials: J
authors.lastname: Kömpf
authors.forename: M J
authors.initials: MJ
authors.lastname: Prata
authors.forename: A
authors.initials: A
authors.lastname: Amorim
mesh_terms: D000483:Alleles; D004592:Electrophoresis, Starch Gel; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D010447:Peptide Hydrolases / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D010447:Peptide Hydrolases; C037529:peptidase C