The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: The population history of the Irish revisited

European Journal of Human Genetics

Volumn 10, Issue 9, 2002, Pages 530-538

  O'Donnell, Kate A ^a,b   O'Neill, Charles ^a   Tighe, Orna ^b   Bertorelle, Giorgio ^c   Naughten, Eileen ^a   Mayne, Philip D ^a   Croke, David T ^b  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^c UNIVERSITY OF FERRARA   (Italy)

Author keywords

Admixture; Hyperphenylalaninaemia; Migration; Mutation; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; DEMOGRAPHY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HISTORY; HUMAN; HYPERPHENYLALANINEMIA; IRELAND; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PHENYLKETONURIA; POPULATION GENETICS; POPULATION MIGRATION; PRIORITY JOURNAL; SPATIAL AUTOCORRELATION ANALYSIS; UNITED KINGDOM; WESTERN EUROPE;

AMINO ACID SUBSTITUTION; CROSSES, GENETIC; EXONS; GENE FREQUENCY; GENETICS, POPULATION; GEOGRAPHY; HUMANS; IRELAND; MUTATION; NORTHERN IRELAND; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCOTLAND;

EID: 0036711986     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200841     Document Type: Article

References (57)

1. The Hyperphenylalaninaemias
2. Cloned human phenylalanine hydroxylase gene permits prenatal and carrier detection of classical phenylketonuria
3. The PKU locus in man is on chromosome 12
4. The PAH Mutation Analysis Consortium Database: Update 1996
5. PAHdb: A locus-specific knowledgebase
6. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene
7. Collation of RFLP haplotypes at the human phenylalaninehydroxylase (PAH) locus
8. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene
9. A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria
10. Polymorphic DNA haplo-types at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria
11. Polymorphic DNA haplo-types at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)
12. Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland
13. The phenylalanine hydroxylase locus: Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
14. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus
15. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: The Quebec experience
16. Molecular analysis of PKU in Ireland
17. Phenylketonuria mutation analysis in Northern Ireland: A rapid stepwise approach
18. Phenylketonuria and the peoples of Northern Ireland
19. Recurrence of the R408W mutation in the Phenylalanine Hydroxylase locus in Europeans
20. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
21. Broad range DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene
22. Direct sequencing of polymerase chain reaction amplified DNA
23. The genetics of human populations
24. Spatial autocorrelation analysis in biology
25. Ecological parameters inferred from spatial correlograms
26. Assessing the significance of a spatial correlogram
27. Die geographische verteilung der blut-gruppen und ihre anthropologische bedeutung
28. Inferring admixture proportions from molecular data
29. PCR detection of the BglII RFLP at the human phenylalanine hydroxylase (PAH) locus
30. Analyses of cross-species polymerase chain reaction products to infer the ancestral state of human polymorphisms
31. PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus
32. Detection of the XmnI RFLP at the human phenylalanine hydroxylase locus by PCR
33. The STR system in the human phenylalanine hydroxylase gene: True fragment length obtained with fluorescent labelled PCR primers
34. Sequence variation at the phenylalanine hydroxylase gene in the British Isles
35. Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway
36. Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: Genotype-phenotype correlation
37. Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?
38. Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU collaborative study
39. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations
40. Early Christian Ireland
41. Population structure and anthropometric variation in rural Western Ireland: Migration and biological differentiation
42. Geographical distribution gradients of the major PKU mutations and the linked haplotypes
43. Phenylketonuria mutations and linked haplotypes in the Lithuanian population: Origin of the most common R408W mutation
44. Celtic phenylketonuria chromosomes found? Evidence in two regions of Quebec Province
45. Phenylketonuria, a Celtic condition revisited
46. The genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers
47. Ireland, Wales. Man and the Hebrides
48. Mtdna and the origin of the Icelanders: Deciphering signals of recent population history
49. Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland
50. Mtdna and the islands of the North Atlantic: Estimating the proportions of Norse and Gaelic ancestry
51. The frequencies of the ABO and Rh (D) blood groups in Ireland from a sample of 1 in 18 of the population
52. Y-chromosome variation and Irish origins
53. The History and Geography of Human Genes
54. Genetics and the population history of Europe
55. The Vikings
56. The Archaeology of Ulster
57. A termination mutation prevalent in Norwegian haplotype 7 phenylketonuria genes