caa a22 4500 467986177 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205176 doi (NATIONALLICENCE)springer-10.1007/BF00205176 Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy [Elektronische Daten] [Irma Dianzani, Marcella Devoto, Clara Camaschella, Giuseppe Saglio, Giovanni Ferrero, Roberto Cerone, Cesare Romano, Giovanni Romeo, Marcello Giovannini, Enrica Riva, Frank Angeneydt, Friedrich Trefz, Yoshiyuki Okano, Savio Woo] Summary: In order to investigate the molecular basis of phenylketonuria (PKU) in Italy, we characterized the RFLP haplotypes at the phenylalanine hydroxylase gene in 38 unrelated Italian PKU families. The distribution of haplotypes associated with PKU alleles differs from that of other European populations. In particular, haplotypes 1 and 6 are present in 39.7% and 17.6% of the PKU chromosomes, whereas the frequencies of haplotypes 2 and 3 are 5.9% and 2.9%, respectively. The characterization of PKU mutations using the polymerase chain reaction and allele-specific oligonucleotides shows that 1 out of 2 haplotypes 3 carries the splicing mutation and that 2 out of 4 haplotypes 2 carry the missense mutation associated with these haplotypes in North European populations. Our results indicate that the two molecular defects most frequent in Northern Europe represent a minority of PKU mutations in Italy. Springer-Verlag, 1990 Dianzani Irma Clinica Pediatrica dell'Università di Torino, Piazza Polonia, 94, I-10126, Turin, Italy aut Devoto Marcella Laboratorio di Genetica Molecolare, Istituto G, Gaslini, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut Camaschella Clara Sezione Clinica, Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Via Genova, 3, I-10126, Turin, Italy aut Saglio Giuseppe Sezione Clinica, Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Via Genova, 3, I-10126, Turin, Italy aut Ferrero Giovanni Clinica Pediatrica dell'Università di Torino, Piazza Polonia, 94, I-10126, Turin, Italy aut Cerone Roberto Istituto G. Gaslini, Clinica Pediatrica dell'Università di Genova, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut Romano Cesare Istituto G. Gaslini, Clinica Pediatrica dell'Università di Genova, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut Romeo Giovanni Laboratorio di Genetica Molecolare, Istituto G, Gaslini, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut Giovannini Marcello Ospedale S. Paolo, Clinica Pediatrica dell'Università di Milano, Via di Rudini, 8, I-20142, Milan, Italy aut Riva Enrica Ospedale S. Paolo, Clinica Pediatrica dell'Università di Milano, Via di Rudini, 8, I-20142, Milan, Italy aut Angeneydt Frank Universitäts-Kinderklinik, Im Neuenheimer Feld 150, W-6900, Heidelberg, Germany aut Trefz Friedrich Universitäts-Kinderklinik, Im Neuenheimer Feld 150, W-6900, Heidelberg, Germany aut Okano Yoshiyuki Howard Hughes Medical Institute, Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Woo Savio Howard Hughes Medical Institute, Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Human Genetics Springer-Verlag 86/1(1990-11-01), 69-72 0340-6717 86:1<69 1990 86 439 https://doi.org/10.1007/BF00205176 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205176 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dianzani Irma Clinica Pediatrica dell'Università di Torino, Piazza Polonia, 94, I-10126, Turin, Italy aut NATIONALLICENCE 700 1- Devoto Marcella Laboratorio di Genetica Molecolare, Istituto G, Gaslini, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut NATIONALLICENCE 700 1- Camaschella Clara Sezione Clinica, Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Via Genova, 3, I-10126, Turin, Italy aut NATIONALLICENCE 700 1- Saglio Giuseppe Sezione Clinica, Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Via Genova, 3, I-10126, Turin, Italy aut NATIONALLICENCE 700 1- Ferrero Giovanni Clinica Pediatrica dell'Università di Torino, Piazza Polonia, 94, I-10126, Turin, Italy aut NATIONALLICENCE 700 1- Cerone Roberto Istituto G. Gaslini, Clinica Pediatrica dell'Università di Genova, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut NATIONALLICENCE 700 1- Romano Cesare Istituto G. Gaslini, Clinica Pediatrica dell'Università di Genova, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut NATIONALLICENCE 700 1- Romeo Giovanni Laboratorio di Genetica Molecolare, Istituto G, Gaslini, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut NATIONALLICENCE 700 1- Giovannini Marcello Ospedale S. Paolo, Clinica Pediatrica dell'Università di Milano, Via di Rudini, 8, I-20142, Milan, Italy aut NATIONALLICENCE 700 1- Riva Enrica Ospedale S. Paolo, Clinica Pediatrica dell'Università di Milano, Via di Rudini, 8, I-20142, Milan, Italy aut NATIONALLICENCE 700 1- Angeneydt Frank Universitäts-Kinderklinik, Im Neuenheimer Feld 150, W-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Trefz Friedrich Universitäts-Kinderklinik, Im Neuenheimer Feld 150, W-6900, Heidelberg, Germany 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, TX, USA 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, TX, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 69-72 0340-6717 86:1<69 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer