Article
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
Human genetics - 1 Nov 1990
Dianzani I, Devoto M, Camaschella C, Saglio G, Ferrero G B, Cerone R, Romano C, Romeo G, Giovannini M, Riva E
Abstract excerpt
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...
Topics
- Gene Frequency
- Haplotypes
- Humans
- Italy
- Mutation
- Oligonucleotide Probes
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Restriction Fragment Length