Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes (Articolo in rivista)

Type
Label
  • Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes (Articolo in rivista) (literal)
Anno
  • 2001-01-01T00:00:00+01:00 (literal)
Alternative label
  • S. Giannattasio, I. Dianzani, P. Lattanzio, M. Spada, V. Romano, F. Calì, G. Andria, A. Ponzone, E. Marra and A. Piazza (2001)
    Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes
    in Human heredity (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • S. Giannattasio, I. Dianzani, P. Lattanzio, M. Spada, V. Romano, F. Calì, G. Andria, A. Ponzone, E. Marra and A. Piazza (literal)
Pagina inizio
  • 154 (literal)
Pagina fine
  • 159 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 52 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Centro di Studio sui Mitocondri e Metabolismo Energetico, CNR, Bari-Trani, Dipartimento di Scienze Mediche, Università del Piemonte Orientale, Novara, Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università di Torino, Torino, Istituto di Biologia, Università di Palermo, Laboratorio di Genetica Molecolare, Istituto OASI (IRCCS), Troina (EN), Dipartimento di Pediatria, Università Federico II, Napoli, gDipartimento di Genetica, Biologia e Biochimica, Università di Torino, Torino, Italia (literal)
Titolo
  • Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes (literal)
Abstract
  • Molecular analysis of 289 chromosomes has been performed in a cohort of phenylketonuria (PKU) patients whose ancestors lived in five Italian regions, Calabria, Campania, Piemonte, Puglia/Basilicata and Sicilia. Phenylalaninehydroxylase (PAH) gene mutations and minihaplotypes (combinations of PAH gene STR and VNTR systems) have been determined for 78.5 and 64%, respectively, of the chromosomes studied. 21 different minihaplotypes and 24 PKU mutations were found. Heterogeneity tests carried out for the frequencies of mutations and minihaplotypes show that the distribution of eight mutations and four minihaplotypes is statistically heterogeneous in the five Italian regions. Although the evolutionary rate of microsatellites or the age of these mutations is difficult to estimate with accuracy, our findings taken together show a genetic stratification of the Italian population. These results rule out allelic homogeneity of PKU at the molecular level between regions of Italy, yet minihaplotype data may be of practical use for a multistep approach to PAH gene genotyping. (literal)
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