Article
Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994
Romano V, Calì F, Guldberg P, Güttler F, Indelicato A, Bosco P, Ceratto N
Abstract excerpt
In this study we report previously undescribed associations between mutations, haplotypes and a minisatellite polymorphism (Hind III VNTR) of the PAH gene in the Sicilian population. Analysis of the association between mutations and linked polymorphisms between Sicilians and other Mediterranean populations may be a useful tool to study the time-space origin of mutant PAH genes in Southern Europe.
Topics
- Alleles
- Deoxyribonuclease HindIII
- Haplotypes
- Humans
- Minisatellite Repeats
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Sicily