title: Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
abstract: In order to elucidate the molecular basis of phenylketonuria (PKU) in Portugal, a detailed study of the Portuguese mutant phenylalanine hydroxylase (PAH) genes was performed. A total of 222 mutant alleles from 111 PKU families were analysed for 26 mutations and restriction fragment length polymorphismlvariable number tandem repeat (RFLP/VNTR) haplotypes. It was possible to characterise 55% of the mutant alleles, in which 14 different mutations (R261Q, V388M, IVS10nt-11, I65T, P281L, R252W, R158Q, L348V, Y414C, L311P, Y198fsdel22bp, R408W, R270K, and R261X) and three polymorphisms (Q232Q, V245V, and L385L) were identified. A total of 14 different haplotypes were observed, with a high prevalence of haplotype 1 among mutant and normal alleles. The results reported in this study show considerable genetic heterogeneity in the Portuguese PKU population, as has also been described for other southern European populations.
authors.affiliation: Centro de Patogénese Molecular, Faculdade de Farmácia da UL, Lisboa, Portugal.
authors.forename: I
authors.initials: I
authors.lastname: Rivera
authors.forename: P
authors.initials: P
authors.lastname: Leandro
authors.forename: U
authors.initials: U
authors.lastname: Lichter-Konecki
authors.forename: I
authors.initials: I
authors.lastname: Tavares de Almeida
authors.forename: M C
authors.initials: MC
authors.lastname: Lechner
mesh_terms: D004252:DNA Mutational Analysis; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000172:deficiency* / Q000235:genetics; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*; D011174:Portugal
chemical_list: D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase