title: RFLPs of the phenylalanine hydroxylase gene in the Italian population.
abstract: Different mutations of the phenylalanine hydroxylase (PAH) gene leading to phenylketonuria (PKU) have been described associated with specific haplotypes in several European countries. In order to investigate the distribution of DNA haplotypes in Italy, restriction fragment length polymorphism (RFLP) analysis of the PAH gene was performed in nine Italian PKU patients from eight unrelated families, and in the available relatives. The analysis of eight polymorphic sites revealed haplotypes 1 and 6 in association with PKU. This pattern appears to differ from those reported for other European populations. The majority of the 14 PKU subjects studied showed compound heterozygosity for different haplotypes, as observed for other European series. RFLP analysis at the PAH locus allowed us to offer the possibility of prenatal diagnosis to six of the studied families. One prenatal diagnosis was performed and a normal fetus was diagnosed.
authors.affiliation: Department of Biomedical Sciences and Human Oncology, University of Turin, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
authors.forename: L
authors.initials: L
authors.lastname: Farinasso
authors.forename: P
authors.initials: P
authors.lastname: Fortina
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
authors.forename: R
authors.initials: R
authors.lastname: Ponzone
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
authors.forename: A
authors.initials: A
authors.lastname: Ponzone
mesh_terms: D000483:Alleles; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007558:Italy; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D010651:Phenylalanine Hydroxylase