title: Sequence variation at the phenylalanine hydroxylase gene in the British Isles.
abstract: Using mutation and haplotype analysis, we have examined the phenylalanine hydroxylase gene in the phenylketonuria populations of four geographical areas of the British Isles: the west of Scotland, southern Wales, and southwestern and southeastern England. The enormous genetic diversity of this locus within the British Isles is demonstrated in the large number of different mutations characterized and in the variety of genetic backgrounds on which individual mutations are found. Allele frequencies of the more common mutations exhibited significant nonrandom distribution in a north/south differentiation. Differences between the west of Scotland and southwestern England may be related to different events in the recent and past histories of their respective populations. Similarities between southern Wales and southeastern England are likely to reflect the heterogeneity that is seen in and around two large capital cities. Finally, comparison with more recently colonized areas of the world corroborates the genealogical origin by range expansion of several mutations.
authors.affiliation: Southmead Hospital, Bristol, United Kingdom.
authors.forename: L A
authors.initials: LA
authors.lastname: Tyfield
authors.forename: A
authors.initials: A
authors.lastname: Stephenson
authors.forename: F
authors.initials: F
authors.lastname: Cockburn
authors.forename: A
authors.initials: A
authors.lastname: Harvie
authors.forename: J L
authors.initials: JL
authors.lastname: Bidwell
authors.forename: N A
authors.initials: NA
authors.lastname: Wood
authors.forename: D T
authors.initials: DT
authors.lastname: Pilz
authors.forename: P
authors.initials: P
authors.lastname: Harper
authors.forename: I
authors.initials: I
authors.lastname: Smith
mesh_terms: D000483:Alleles; D016000:Cluster Analysis; D004252:DNA Mutational Analysis; D004739:England; D005091:Exons; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D018598:Minisatellite Repeats; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012606:Scotland; D014852:Wales
chemical_list: D009692:Nucleic Acid Heteroduplexes; D010651:Phenylalanine Hydroxylase