Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy

Irma Dianzani, Marcella Devoto, Clara Camaschella, Giuseppe Saglio, Giovanni Battista Ferrero, Roberto Cerone, Cesare Romano, Giovanni Romeo, Marcello Giovannini, Enrica Riva, Frank Angeneydt, Friedrich K. Trefz, Yoshiyuki Okano, Savio L C Woo

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)69-72
Number of pages4
JournalHuman Genetics
Issue number1
Publication statusPublished - 1990

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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