Article
PKU in Slovakia: mutation screening and haplotype analysis.
Human genetics - 1 Jan 1995
Kádasi L, Poláková H, Feráková E, Hudecová S, Bohusová T, Szomolayová I, Strnová J, Hruskovic I, Moschonas N K, Ferák V
Abstract excerpt
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%;...
Topics
- Haplotypes
- Humans
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Restriction Fragment Length
- Slovakia