Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene.
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.
Scobie
G A
GA
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Urquhart
A J
AJ
Elder
G H
GH
Kalsheker
N A
NA
Llewellyn
D H
DH
Smyth
J
J
Harrison
P R
PR
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
D007527:Isoenzymes; D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases