Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: Identification of four novel mutations

Journal of Medical Genetics

Volumn 34, Issue 11, 1997, Pages 893-898

  Kozák, Libor ^a   Blažková, Michaela ^a   Kuhrová, Viera ^a   Pijáčková, Anna ^a   Růžičková, Šárka ^b   Št'astná, Sylvie ^c  

^a Research Institute of Child Health Brno   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

Mutation detection; Phenylketonuria; Population genetics

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CZECH REPUBLIC; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; EUROPE; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC MARKER; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MIGRATION; PHENYLKETONURIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RESTRICTION MAPPING; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0030727361     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.11.893     Document Type: Article

References (29)

1. Hoang L, Byck S, Prevost L, Scriver CR. PAH mutation analysis consortium database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res 1996;24:127-31.
2. Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SLC. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet 1992;51:627-36.
3. Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SLC. A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum Mol Genet 1993;2:577-81.
4. Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, et al. Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria. J Med Genet 1991;28: 686-90.
5. Lichter-Konecki U, Schlotter M, Konecki DS. DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles. Hum Genet 1994;94:307-10.
6. Eiken HG, Knappskog PM, Guldberg P, Apold J. DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase-gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations. Hum Mutat 1996;8:19-22.
7. Zschocke J, Graham CO, Carson DJ, Nevin NC. Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am J Hum Genet 1995;57:1311-17.
8. Kuzmin AI, Eisensmith RC, Goltsov AA, Sergeeva NA, Schwartz EI, Woo SLC. Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations. Eur J Hum Genet 1995;3:246-55.
9. Morral N, Bertranpetit J, Estivill X, et al. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 1994;7:169-75.
10. Wallace DC. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 1995;57:201-23.
11. Scriver CR, John SMW, Rozen R, Eisensmith R, Woo SLC. Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: an overview. Dev Brain Dysfunct 1993;6:11-25.
12. Eisensmith RC, Okano Y, Dasovich M, et al. Multiple origins for phenylketonuria in Europe. Am J Hum Genet 1992;51:1355-65.
13. Eisensmith RC, Woo SLC. Population genetics of phenylketonuria. Acta Paediatr Scand Suppl 1994;407:19-26.
14. Kozák L, Kuhrová V, Blažková M, et al. Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families. Hum Genet 1995;96: 472-6.
15. Guldberg P, Güttler F. A simple method for identification of point mutations using denaturing gradient gel electrophoresis. Nucleic Acids Res 1993;21:2261-2.
16. Guldberg P, Güttler F. 'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene. Nucleic Acids Res 1994;22: 880-1.
17. Eisensmith RC, Woo SLC. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet 1992;51:1445-8.
18. Kozák L, Dvořáková D, Pijáčková A, Kamarýt J. Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia. J Inherit Metab Dis 1993;16:451-6.
19. Güttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand Suppl 1980;280:1-80.
20. Dworniczak B, Wedemeyer N, Horst J. PCR detection of the BglII RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 1991;19:1958.
21. Dworniczak B, Wedemeyer N, Eigel A, Horst J. PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 1991;19:1958.
22. Scriver CR, Hoang L, Byck S, Prevost L. PAH Gene Mutation Analysis Consortium Newsletter. Montreal: McGill University, December 1993.
23. Wedemeyer N, Dworniczak B, Horst J. PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 1991;19:1959.
24. Goltsov AA, Eisensmith RC, Woo SLC. Detection of the XmnI RFLP at the human PAH locus by PCR. Nucleic Acids Res 1992;20:927.
25. Lidsky AS, Ledley FD, DiLella AG, et al. Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylfcetonuria. Am J Genet 1985;37:619-34.
26. Guldberg P, Henriksen KF, Güttler F. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 1993;17:141-6.
27. Guldberg P, Romano V, Ceratto N, et al. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in Southern Europe. Hum Mol Genet 1993;2:1703-7.
28. Hultman T, Stahl S, Homes E, Uhlén M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res 1989;17:4937-46.
29. Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholomé K, Grudda K, Horst J. Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of Southern Europe. Genomics 1991;11: 242-6.