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Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene
G A Scobie1, A J Urquhart, G H Elder
1Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Human Genetics
|July 1, 1990
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.