title: Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
abstract: 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.
authors.affiliation: Clinica Pediatrica dell'Università di Torino, Turin, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
authors.forename: G
authors.initials: G
authors.lastname: Saglio
authors.forename: G B
authors.initials: GB
authors.lastname: Ferrero
authors.forename: R
authors.initials: R
authors.lastname: Cerone
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: M
authors.initials: M
authors.lastname: Giovannini
authors.forename: E
authors.initials: E
authors.lastname: Riva
mesh_terms: D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007558:Italy; D009154:Mutation; D015345:Oligonucleotide Probes; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015345:Oligonucleotide Probes; D010651:Phenylalanine Hydroxylase