title: Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.
abstract: RFLP haplotypes at the phenylalanine hydroxylase (PAH) locus were determined in 45 nuclear Caucasian families from Switzerland and Scotland. The RFLPs at the PAH locus are highly informative, and prenatal diagnosis is possible in 85% of the families studied. The data were combined with the profiles previously observed in the Danish population, in order to study the variation in RFLP haplotype distribution among European populations. A total of 22 different haplotypes were observed in Denmark, Switzerland, and Scotland. Fifteen and 19 haplotypes are associated with the normal (non-PKU) and with the mutant chromosomes, respectively. The haplotype distribution and the allele frequency of normal chromosomes remain constant between Denmark, Switzerland, and Scotland. However, both the haplotype distribution and allele frequencies of mutant chromosomes show significant variation between the three countries. Our results suggest there may be additional mutations in the PAH gene that cause PKU.
authors.affiliation: Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.
authors.forename: S E
authors.initials: SE
authors.lastname: Sullivan
authors.forename: S D
authors.initials: SD
authors.lastname: Moore
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
authors.forename: M
authors.initials: M
authors.lastname: King
authors.forename: F
authors.initials: F
authors.lastname: Cockburn
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: R
authors.initials: R
authors.lastname: Gitzelmann
authors.forename: S P
authors.initials: SP
authors.lastname: Daiger
authors.forename: S L
authors.initials: SL
authors.lastname: Woo
mesh_terms: D000483:Alleles; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D003718:Denmark; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012606:Scotland; D013557:Switzerland
chemical_list: D010651:Phenylalanine Hydroxylase