title: Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian population.
abstract: Recently, a proven case of human S-adenosylhomocysteine-hydrolase (SAHH) deficiency was reported in a Croatian boy. As molecular analysis of the SAHH gene in this case revealed two different mutant alleles, we investigated the polymorphism of human SAHH in a total of 237 red blood samples from unrelated Croats using starch gel electrophoresis and an enzyme-specific staining procedure. From the relative enzymatic activity of SAHH--determined by densitometric assessment of electrophoretic patterns, and calculated on the basis of the protein concentration of the red blood cells-we detected three individuals as being heterozygous for an SAHH 0-allele. Moreover, a total of four different electromorphic SAHHs have been observed, giving allele frequencies calculated as SAHH 1 = 0.941, SAHH 2 = 0.032, SAHH 3 = 0.006, SAHH 4 = 0.015, and SAHH 0 = 0.006.
authors.affiliation: Department of Pharmacology and Toxicology, Faculty of Medicine, University of Tübingen, Wilhelmstraße 56, 72074, Tübingen, Germany. doris.kloor@uni-tuebingen.de.
authors.forename: Doris
authors.initials: D
authors.lastname: Kloor
authors.affiliation: Clinical Institute of Laboratory Diagnosis, University Hospital Centre, Zagreb, Croatia.
authors.forename: Ksenija
authors.initials: K
authors.lastname: Fumic
authors.affiliation: Institute of Human Genetics, Faculty of Medicine, University of Tübingen, Wilhelmstraße 27, 72074, Tübingen, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Attig
authors.affiliation: Department of Pharmacology and Toxicology, Faculty of Medicine, University of Tübingen, Wilhelmstraße 56, 72074, Tübingen, Germany.
authors.forename: Martina
authors.initials: M
authors.lastname: Tete
authors.affiliation: Department of Pharmacology and Toxicology, Faculty of Medicine, University of Tübingen, Wilhelmstraße 56, 72074, Tübingen, Germany.
authors.forename: Hartmut
authors.initials: H
authors.lastname: Osswald
authors.affiliation: Department of Pediatrics, University Hospital Centre, Zagreb, Croatia.
authors.forename: Ivo
authors.initials: I
authors.lastname: Baric
authors.affiliation: Institute of Human Genetics, Faculty of Medicine, University of Tübingen, Wilhelmstraße 27, 72074, Tübingen, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Tomiuk
authors.affiliation: Institute of Human Genetics, Faculty of Medicine, University of Tübingen, Wilhelmstraße 27, 72074, Tübingen, Germany.
authors.forename: Jost
authors.initials: J
authors.lastname: Kömpf
mesh_terms: D043383:Adenosylhomocysteinase / Q000235:genetics*; D000483:Alleles; D017523:Croatia; D005787:Gene Frequency; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D043383:Adenosylhomocysteinase