title: Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene.
abstract: Three restriction fragment length polymorphisms (RFLPs) (MspI, PstI, ScrFI/BstNI) within the human porphobilinogen deaminase (PBG-D) gene have been studied in 47 unrelated patients with the autosomal dominant disorder, acute intermittent porphyria (AIP), and in 92 control subjects. Each enzyme identified a two-allele polymorphism with allele frequencies close to 0.50: however, marked linkage disequilibrium limited the number of observed haplotypes to four, of which one is uncommon. No association was detected between any haplotype and AIP.
authors.affiliation: Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: G A
authors.initials: GA
authors.lastname: Scobie
authors.forename: A J
authors.initials: AJ
authors.lastname: Urquhart
authors.forename: G H
authors.initials: GH
authors.lastname: Elder
authors.forename: N A
authors.initials: NA
authors.lastname: Kalsheker
authors.forename: D H
authors.initials: DH
authors.lastname: Llewellyn
authors.forename: J
authors.initials: J
authors.lastname: Smyth
authors.forename: P R
authors.initials: PR
authors.lastname: Harrison
mesh_terms: D000208:Acute Disease; D000483:Alleles; D000642:Ammonia-Lyases / Q000235:genetics*; D005192:Family Health; D006580:Genetic Carrier Screening / Q000379:methods*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007527:Isoenzymes / Q000235:genetics*; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics
chemical_list: D007527:Isoenzymes; D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases