title: PKU in Slovakia: mutation screening and haplotype analysis.
abstract: The restriction fragment length polymorphism haplotypes and seven common mutations in the phenylalanine hydroxylase gene were analysed in 49 unrelated Slovak phenylketonuria (PKU) families of Caucasian origin. The predominant mutation in this population sample is R408W, with a frequency of 45.9%. In addition, four other mutations have been identified at relatively high frequencies: IVS12nt1, 10.2%; R158Q, 7.1%; R261Q, 7.1%; R252W, 2.0%. The mutation-haplotype associations correspond to those described in other European populations. The high proportion of mutations (72.4%) amenable to simple rapid detection based on the polymerase chain reaction provides a good basis for direct DNA-diagnosis of PKU in the Slovak population.
authors: Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava.
authors: L
authors: L
authors: Kádasi
authors: H
authors: H
authors: Poláková
authors: E
authors: E
authors: Feráková
authors: S
authors: S
authors: Hudecová
authors: T
authors: T
authors: Bohusová
authors: I
authors: I
authors: Szomolayová
authors: J
authors: J
authors: Strnová
authors: I
authors: I
authors: Hruskovic
authors: N K
authors: NK
authors: Moschonas
authors: V
authors: V
authors: Ferák
mesh_terms: D006239:Haplotypes; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D018154:Slovakia
chemical_list: D010651:Phenylalanine Hydroxylase