Summary
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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Scobie, G.A., Urquhart, A.J., Elder, G.H. et al. Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene. Hum Genet 85, 157–159 (1990). https://doi.org/10.1007/BF00193188
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DOI: https://doi.org/10.1007/BF00193188