title: Prospects of carrier screening of aspartylglucosaminuria in Finland.
abstract: The frequency of carriers of the AGUFin mutation, the predominant mutation causing aspartylglucosaminuria in Finland, was determined in a population sample comprising 553 newborns from a delivery hospital in southern Finland, and 607 from a hospital in northern Finland. The AGUFin point mutation was identified from cord blood samples using the PCR-based, solid-phase minisequencing method. Nineteen carriers of the AGUFin mutation were detected, 8 (1:69) in the sample from the southern and 11 (1:55) from the northern population, respectively. The solid-phase minisequencing method proved to be rapid and convenient for the detection of the AGUFin mutation, and can readily be applied in large-scale carrier screening at the population level.
authors.affiliation: Department of Medical Genetics, University of Turku, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Hietala
authors.forename: K
authors.initials: K
authors.lastname: Grön
authors.forename: A C
authors.initials: AC
authors.lastname: Syvänen
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: P
authors.initials: P
authors.lastname: Aula
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001227:Aspartylglucosylaminase / Q000235:genetics*; D005387:Finland; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D001227:Aspartylglucosylaminase