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. 1990 Jul;85(2):157-9.
doi: 10.1007/BF00193188.

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

G A Scobie  1 , A J Urquhart, G H Elder, N A Kalsheker, D H Llewellyn, J Smyth, P R Harrison
Affiliations

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

G A Scobie et al. Hum Genet. 1990 Jul.

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.

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