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. 1988 Aug;79(4):379-81.
doi: 10.1007/BF00282182.

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

J S Lee  1 , M Anvret, J Lindsten, L Lannfelt, P Gellerfors, L Wetterberg, Y Floderus, S Thunell
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DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

J S Lee et al. Hum Genet. 1988 Aug.

Abstract

Two unrelated families with acute intermittent porphyria (AIP), an autosomal dominant disease related to a defect in porphobilinogen deaminase (PBG-D, EC 4.1.3.8.), were studied with regard to three restriction fragment length polymorphisms (RFLPs) (MspI, PstI, BstNI) within the PBG-D gene. The results indicate that linkage analysis of RFLPs within the gene can be used as a complement to PBG-D analysis for the diagnosis of gene carriers in families with AIP.

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