title: Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily.
abstract: 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.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto OASI (IRCCS), Troina, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Romano
authors.forename: F
authors.initials: F
authors.lastname: Calì
authors.forename: P
authors.initials: P
authors.lastname: Guldberg
authors.forename: F
authors.initials: F
authors.lastname: Güttler
authors.forename: A
authors.initials: A
authors.lastname: Indelicato
authors.forename: P
authors.initials: P
authors.lastname: Bosco
authors.forename: N
authors.initials: N
authors.lastname: Ceratto
mesh_terms: D000483:Alleles; D015247:Deoxyribonuclease HindIII / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D018598:Minisatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics; D012802:Sicily / Q000453:epidemiology; D013029:Space-Time Clustering
chemical_list: D010651:Phenylalanine Hydroxylase; D015247:Deoxyribonuclease HindIII