{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:11:53Z","timestamp":1759691513171,"version":"build-2065373602"},"reference-count":39,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,11]]},"abstract":"<jats:p>Mutations, haplotypes, and other polymorphic markers in the phenylalanine hydroxylase (PAH) gene were analysed in 133 unrelated Czech families with classical phenylketonuria (PKU). Almost 95% of all mutant alleles were identified, using a combination of PCR and restriction analysis, denaturing gradient gel electrophoresis (DGGE), and sequencing. A total of 30 different mutations, 16 various RFLP\/VNTR haplotypes, and four polymorphisms were detected on 266 independent mutant chromosomes. The most common molecular defect observed in the Czech population was R408W (54.9%). Each of the other 29 mutations was present in no more than 5% of alleles and 13 mutations were found in only one PKU allele each (0.4%). Four novel mutations G239A, R270fsdel5bp, A342P, and IVS11nt-8g--&gt;a were identified. In 14 (5.1%) alleles, linked to four different RFLP\/VNTR haplotypes, the sequence alterations still remain unknown. Our results confirm that PKU is a heterogeneous disorder at the molecular level. Since there is evidence for the gene flow coming from northern, western, and southern parts of Europe into our Slavic population, it is clear that human migration has been the most important factor in the spread of PKU alleles in Europe.<\/jats:p>","DOI":"10.1136\/jmg.34.11.893","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"893-898","source":"Crossref","is-referenced-by-count":14,"title":["Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations."],"prefix":"10.1136","volume":"34","author":[{"given":"L","family":"Koz\u00e1k","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Blazkov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Kuhrov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Pij\u00e1ckov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"R\u016fzickov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"St'astn\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1093\/nar\/24.1.127","article-title":"PAH mutation analysis consortium database: a database for diseaseproducing and other allelic variation at the human PAH locus","volume":"24","author":"Hoang, L.; Byck, S.; Prevost, L.; Scriver, C.R.","year":"1996","unstructured":"Hoang L, Byck S, Prevost L, Scriver CR. PAH mutation analysis consortium database: a database for diseaseproducing and other allelic variation at the human PAH locus. Nucleic Acids Res 1996;24: 127-31.","journal-title":"Nucleic Acids Res"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1093\/hmg\/2.5.577","article-title":"A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria","volume":"2","author":"Goltsov, A.A.; Eisensmith, R.C.; Naughton, E.R.; Jin, L.; Chakraborty, R.; Woo, S.L.C.","year":"1993","unstructured":"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. 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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.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/(SICI)1098-1004(1996)8:1<19::AID-HUMU2>3.0.CO;2-K","article-title":"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","volume":"8","author":"Eiken, H.G.; Knappskog, P.M.; Guldberg, P.; Apold, J.","year":"1996","unstructured":"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.","journal-title":"Hum Mutat"},{"key":"ref_6","first-page":"131","article-title":"Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. An,7 Hun, Genet","volume":"57","author":"Zschocke, J.; Graham, C.O.; Carson, D.J.; Nevin, N.C.","year":"1995","unstructured":"Zschocke J, Graham CO, Carson DJ, Nevin NC. Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. An,7 Hun, Genet 1995;57:131 1-17."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1159\/000472305","article-title":"Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations","volume":"3","author":"Kuzmin, A.I.; Eisensmith, R.C.; Goltsov, A.A.; Sergeeva, N.A.; Schwartz, E.I.; Woo, S.L.C.","year":"1995","unstructured":"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]r Hun, Genet 1995;3:246-55.","journal-title":"Eur]r Hun, Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/ng0694-169","article-title":"The origin of the major cystic fibrosis mutation (AF508) in European populations","volume":"7","author":"Morral, N.; Bertranpetit, J.; Estivill, X.","year":"1994","unstructured":"Morral N, Bertranpetit J, Estivill X, et al. The origin of the major cystic fibrosis mutation (AF508) in European populations. Nat Genet 1994;7:169-75.","journal-title":"Nat Genet"},{"key":"ref_9","first-page":"201","article-title":"Mitochondrial DNA variation in human evolution, degenerative disease, and aging","volume":"57","author":"Wallace, D.C.","year":"1995","unstructured":"Wallace DC. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Anm Hun Genet 1995;57:201-23.","journal-title":"Anm Hun Genet"},{"article-title":"Multiple origins for phenylketonuria in Europe. An ] Huni Geniet 1992; 51: 1355-65. Slovakia, a common origin of the mutation can be assumed. The mutation R252W was found in Europe mainly","author":"Eisensmith, R.C.; Okano, Y.; Dasovich, M.","key":"ref_10","unstructured":"Eisensmith RC, Okano Y, Dasovich M, et al. Multiple origins for phenylketonuria in Europe. An ] Huni Geniet 1992;51:1355-65. Slovakia, a common origin of the mutation can be assumed. The mutation R252W was found in Europe mainly on haplotype 7 (many contributors to the PAH Gene Mutation"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1651-2227.1994.tb13442.x","article-title":"Population genetics of phenylketonuria","volume":"407","author":"Eisensmith, R.C.; Woo, S.L.C.","year":"1994","unstructured":"Eisensmith RC, Woo SLC. Population genetics of phenylketonuria. 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Nucleic Acids Res 1993;21:2261-2.","journal-title":"Nucleic Acids Res"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1093\/nar\/22.5.880","article-title":"'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene","volume":"22","author":"Guldberg, P.; Guttler, F.","year":"1994","unstructured":"Guldberg P, Guttler 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.","journal-title":"Nucleic Acids Res"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/BF00710297","article-title":"Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia","volume":"16","author":"Kozak, L.; Dvorakova, D.; Pijackova, A.; Kamaryt, J.","year":"1993","unstructured":"Kozak L, Dvorakova D, Pijackova A, Kamaryt J. Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia. ] Inherit Metab Dis 1993;16:451-6.","journal-title":"Inherit Metab Dis"},{"key":"ref_16","first-page":"1","article-title":"Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood","volume":"280","author":"Guttler, F.","year":"1980","unstructured":"Guttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scanid Suppl 1980;280: 1-80.","journal-title":"Acta Paediatr Scanid Suppl"},{"key":"ref_17","article-title":"PCR detection of the BglII RFLP at the human phenylalanine hydroxylase (PAH) locus","author":"Dworniczak, B.; Wedemeyer, N.; Horst, J.","year":"1991","unstructured":"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.","journal-title":"Nucleic Acids Res"},{"key":"ref_18","article-title":"PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus","author":"Dworniczak, B.; Wedemeyer, N.; Eigel, A.; Horst, J.","year":"1991","unstructured":"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.","journal-title":"Nucleic Acids Res"},{"key":"ref_19","article-title":"PAH Gene Mutation Analysis Consortium Newsletter","author":"Scriver, C.R.; Hoang, L.; Byck, S.; Prevost, L.","year":"1993","unstructured":"Scriver CR, Hoang L, Byck S, Prevost L. PAH Gene Mutation Analysis Consortium Newsletter. Montreal: McGill University, December 1993."},{"key":"ref_20","article-title":"PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus","author":"Wedemeyer, N.; Dworniczak, B.; Horst, J.","year":"1991","unstructured":"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.","journal-title":"Nucleic Acids Res"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1093\/nar\/20.4.927-a","article-title":"Detection of the XmnI RFLP at the human PAH locus by PCR","volume":"20","author":"Goltsov, A.A.; Eisensmith, R.C.; Woo, S.L.C.","year":"1992","unstructured":"Goltsov AA, Eisensmith RC, Woo SLC. Detection of the XmnI RFLP at the human PAH locus by PCR. Nucleic Acids Res 1992;20:927.","journal-title":"Nucleic Acids Res"},{"key":"ref_22","first-page":"619","article-title":"Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria","volume":"37","author":"Lidsky, A.S.; Ledley, F.D.; DiLella, A.G.","year":"1985","unstructured":"Lidsky AS, Ledley FD, DiLella AG, et al. Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet 1985;37:619-34.","journal-title":"Am J Hum Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1006\/geno.1993.1295","article-title":"Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis","volume":"17","author":"Guldberg, P.; Henriksen, K.F.; Guttler, F.","year":"1993","unstructured":"Guldberg P, Henriksen KF, Guttler F. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 1993;17:141-6.","journal-title":"Genomics"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1093\/hmg\/2.10.1703","article-title":"Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in Southern Europe","volume":"2","author":"Guldberg, P.; Romano, V.; Ceratto, N.","year":"1993","unstructured":"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.","journal-title":"Hum Mol Genet"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"4937","DOI":"10.1093\/nar\/17.13.4937","article-title":"Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support","volume":"17","author":"Hultman, T.; Stahl, S.; Hornes, E.; Uhlen, M.","year":"1989","unstructured":"Hultman T, Stahl S, Hornes E, Uhlen M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res 1989;17:4937-46.","journal-title":"Nucleic Acids Res"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/0888-7543(91)90129-3","article-title":"Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of Southern Europe","volume":"11","author":"Dworniczak, B.; Aulehla-Scholz, C.; Kalaydjieva, L.; Bartholome, K.; Grudda, K.; Horst, J.","year":"1991","unstructured":"Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholome 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.","journal-title":"Genomics"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/humu.1380040412","article-title":"Phenylketonuria in southern Poland: a new splice mutation","volume":"4","author":"Zygulska, M.; Eigel, A.; Jj, Pietrzyk; Horst, J.","year":"1994","unstructured":"Zygulska M, Eigel A, Pietrzyk Jj, Horst J. Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus. Hum Mutat 1994;4:297-9.","journal-title":"Hum Mutat"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"9137","DOI":"10.1016\/S0021-9258(17)37087-4","article-title":"Functional characterization of a unique liver gene promoter","volume":"269","author":"Wang, Y.; Hahn, T.M.; Tsai, S.Y.; Woo, S.L.C.","year":"1994","unstructured":"Wang Y, Hahn TM, Tsai SY, Woo SLC. Functional characterization of a unique liver gene promoter. Y Biol Chem 1994;269:9137-46.","journal-title":"Y Biol Chem"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1093\/hmg\/3.9.1675","article-title":"Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations","volume":"3","author":"Byck, S.; Morgan, K.; Tyfield, L.; Dworniczak, B.; Scriver, C.R.","year":"1994","unstructured":"Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver CR. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Hum Mol Genet 1994; 3:1675-7.","journal-title":"Hum Mol Genet"},{"key":"ref_30","first-page":"278","article-title":"Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans","volume":"56","author":"Eisensmith, R.C.; Goltsov, A.A.; O'Neill, C.","year":"1995","unstructured":"Eisensmith RC, Goltsov AA, O'Neill C, et al. Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am J Hum Genet 1995;56:278-86.","journal-title":"Am J Hum Genet"},{"key":"ref_31","first-page":"60","article-title":"Molecular basis of phenylketonuria in an English population","volume":"6","author":"Tyfield, L.A.; Osborn, M.J.; King, S.K.; Jones, M.M.; Holton, J.B.","year":"1993","unstructured":"Tyfield LA, Osborn MJ, King SK, Jones MM, Holton JB. Molecular basis of phenylketonuria in an English population. Dev Brain Dysfunct 1993;6:60-7.","journal-title":"Dev Brain Dysfunct"},{"key":"ref_32","first-page":"1034","article-title":"Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes","volume":"56","author":"Ramus, S.J.; Treacy, E.P.; Cotton, R.G.H.","year":"1995","unstructured":"Ramus SJ, Treacy EP, Cotton RGH. Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes. Am J Hum Genet 1995;56:1034-41.","journal-title":"Am J Hum Genet"},{"key":"ref_33","first-page":"129","article-title":"Mutation analysis in Turkish phenylketonuria patients..7 Med","volume":"30","author":"Ozguc, M.; Ozalp, I.; Coskun, T.; Yilmaz, E.; Erdem, H.; Ayter, S.","year":"1993","unstructured":"Ozguc M, Ozalp I, Coskun T, Yilmaz E, Erdem H, Ayter S. Mutation analysis in Turkish phenylketonuria patients..7 Med Genet 1993;30:129-30.","journal-title":"Genet"},{"key":"ref_34","first-page":"573","article-title":"Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients","author":"Traeger-Synodinos, J.; Kanavakis, E.; Kalogerakou, M.; Soulpi, K.; Missiou-Tsangaraki, S.; Kattamis, C.","year":"1994","unstructured":"Traeger-Synodinos J, Kanavakis E, Kalogerakou M, Soulpi K, Missiou-Tsangaraki S, Kattamis C. Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients. Hum Genet 1994,94:573-5.","journal-title":"Hum Genet"},{"key":"ref_35","first-page":"192","article-title":"Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation","volume-title":"Hum Mutat","volume":"6","author":"Leandro, P.; Rivera, I.; Ribeiro, V.; de Almeida, I.T.; da Silveira, C.; Lechner, M.C.","year":"1995","unstructured":"Leandro P, Rivera I, Ribeiro V, de Almeida IT, da Silveira C, Lechner MC. Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation. Hum Mutat 1995;6:192-4."},{"key":"ref_36","first-page":"851","article-title":"Genetic history of phenylketonuria mutations in Italy","volume":"55","author":"Dianzani, I.; Giannattasio, S.; de Sanctis, I.","year":"1994","unstructured":"Dianzani I, Giannattasio S, de Sanctis I, et al. Genetic history of phenylketonuria mutations in Italy. Am I Hum Genet 1994;55:851-3.","journal-title":"Am I Hum Genet"},{"key":"ref_37","first-page":"83","article-title":"Geographical distribution of phenylalanine hydroxylase alleles in Sicily","volume":"6","author":"Romano, V.; Bosco, P.; Chiavetta, V.","year":"1993","unstructured":"Romano V, Bosco P, Chiavetta V, et al. Geographical distribution of phenylalanine hydroxylase alleles in Sicily. Dev Brain Dysfunct 1993;6:83-91.","journal-title":"Dev Brain Dysfunct"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/0888-7543(91)90331-8","article-title":"Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications","volume":"10","author":"Wang, T.; Okano, Y.; Eisensmith, R.C.","year":"1991","unstructured":"Wang T, Okano Y, Eisensmith RC, et al. Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications. 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Molecular and popupation genetics of phenylketonuria in Orientals: correlation between phenotype and genotype. _7 Inherit Metab Dis 1994;17: 156-9.","journal-title":"_7 Inherit Metab Dis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.11.893","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:42:31Z","timestamp":1759689751000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.11.893"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,11]]},"references-count":39,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1997,11,1]]},"published-print":{"date-parts":[[1997,11]]}},"alternative-id":["10.1136\/jmg.34.11.893"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.11.893","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1997,11]]}}}