title: DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.
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.
mesh_terms: D000642:Ammonia-Lyases / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011164:Porphyrias / Q000235:genetics*; D013548:Sweden
chemical_list: D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases