caa a22 4500 465820255 CHVBK 20180323112133.0 cr unu---uuuuu 170327e19900101xx s 000 0 eng 10.1007/BF01650483 doi (NATIONALLICENCE)springer-10.1007/BF01650483 Molecular genetics of PKU in Eastern Europe: A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene [Elektronische Daten] [Tao Wang, Yoshiyuki Okano, Randy Eisensmith, Gyorgy Fekete, Dezso Schuler, Gyyrgy Berencsi, Istvan Nasz, Savio Woo] Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenyalanine hydroxylase (PAH). Several mutations in thePAH gene have recently been reported, and linkage disequilibrium was observed between RFLP haplotypes and specific mutations. A new molecular lesion has been identified in exon 7 of thePAH gene in a Hungarian PKU patient by direct sequencing of PCR-amplified DNA. The C-to-T transition causes the substitution of Arg243 to a termination codon, and the mutant allele is associated with haplotype 4 of thePAH gene. The mutation is present in two of nine mutant haplotype 4 alleles among Eastern Europeans and is not present among Western Europeans and Asians. The rarity of this mutant allele and its restricted geographic distribution suggest that the mutational event occurred recently on a normal haplotype 4 background in Eastern Europe. Plenum Publishing Corporation, 1990 Wang Tao Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut Okano Yoshiyuki Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut Eisensmith Randy Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut Fekete Gyorgy Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut Schuler Dezso Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut Berencsi Gyyrgy Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut Nasz Istvan Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut Woo Savio Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut Somatic Cell and Molecular Genetics Kluwer Academic Publishers-Plenum Publishers 16/1(1990-01-01), 85-90 0740-7750 16:1<85 1990 16 11188 https://doi.org/10.1007/BF01650483 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01650483 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wang Tao Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut NATIONALLICENCE 700 1- Okano Yoshiyuki Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut NATIONALLICENCE 700 1- Eisensmith Randy Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut NATIONALLICENCE 700 1- Fekete Gyorgy Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut NATIONALLICENCE 700 1- Schuler Dezso Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut NATIONALLICENCE 700 1- Berencsi Gyyrgy Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut NATIONALLICENCE 700 1- Nasz Istvan Departments of Microbiology and Pediatrics II, Semmelweis University of Medicine, Budapest, Hungary aut NATIONALLICENCE 700 1- Woo Savio Howard Hughes Medical Institute Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, Texas aut NATIONALLICENCE 773 0- Somatic Cell and Molecular Genetics Kluwer Academic Publishers-Plenum Publishers 16/1(1990-01-01), 85-90 0740-7750 16:1<85 1990 16 11188 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer