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.
References
Barič I, Mardešič D, Gjurič G, Sarnavka V, Goebel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK (1992) Haplotype distribution and mutations at the PAH locus in Croatia. Hum Genet 90: 155–157
Dworniczak B, Wedermeyer N, Horst J (1991a) PCR detection of the BglII RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19: 1958
Dworniczak B, Wedermeyer N, Eigel A, Horst J (1991b) PCR detection of the PvuII (Ea) RFLP at the phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19: 1958
Eiken HG, Odland E, Boman H, Skjelkvale L, Engebretsen LF, Apold J (1991) Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 19: 1427–1430
Eisensmith RC, Woo SLC (1992) Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet 51: 1445–1448
Eisensmith RC, Okano J, et al (1992) Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51: 1355–1365
Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SLC (1992a) Association between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet 51: 627–636
Goltsov AA, Eisensmith RC, Woo SLC (1992b) Detection of the XmnI RFLP at the human PAH locus by PCR. Nucleic Acids Res 20: 928
Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J (1991) Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum Genet 86: 411–413
Wedermeyer N, Dworniczak B, Horst J (1991) PCR detection of the MspI (Aa) RFLP at the phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19: 1959
Zygulska M, Eigel A, Dworniczak B, Sutkowska A, Pietrzyk JJ. Horst J (1991) Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations. Hum Genet 88: 91–94
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kádasi, L., Poláková, H., Feráková, E. et al. PKU in Slovakia: mutation screening and haplotype analysis. Hum Genet 95, 112–114 (1995). https://doi.org/10.1007/BF00225087
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00225087