Summary
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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References
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Lee, JS., Anvret, M., Lindsten, J. et al. DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria. Hum Genet 79, 379–381 (1988). https://doi.org/10.1007/BF00282182
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DOI: https://doi.org/10.1007/BF00282182