caa a22 4500 467983666 CHVBK 20180323112525.0 cr unu---uuuuu 170328e19900201xx s 000 0 eng 10.1007/BF00200567 doi (NATIONALLICENCE)springer-10.1007/BF00200567 Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction [Elektronische Daten] [Jin-Sung Lee, Jan Lindsten, Maria Anvret] Summary: Acute intermittent porphyria (AIP) is due to a defect in porphobilinogen deaminase (PBGD, E.C. 4.1.3.8) inherited as an autosomal dominant trait. Presymptomatic carrier detection is important in order to avoid exposure to factors inducing severe clinical symptoms. Carriers and noncarriers of the AIP gene can be distinguished by linkage analysis using three intragenic RFLPs in AIP families. In the present study, the polymerase chain reaction (PCR) was used to amplify 3.3-kb genomic sequences covering three polymorphic sites. Haplotypes were identified after cleavage of amplified products with three restriction enzymes, showing that the technique can be successfully used for linkage analysis in AIP families. Springer-Verlag, 1990 Lee Jin-Sung Department of Clinical Genetics, Karolinska Hospital, P.O.Box 60 500, S-10401, Stockholm, Sweden aut Lindsten Jan Department of Clinical Genetics, Karolinska Hospital, P.O.Box 60 500, S-10401, Stockholm, Sweden aut Anvret Maria Department of Clinical Genetics, Karolinska Hospital, P.O.Box 60 500, S-10401, Stockholm, Sweden aut Human Genetics Springer-Verlag 84/3(1990-02-01), 241-243 0340-6717 84:3<241 1990 84 439 https://doi.org/10.1007/BF00200567 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00200567 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lee Jin-Sung Department of Clinical Genetics, Karolinska Hospital, P.O.Box 60 500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 700 1- Lindsten Jan Department of Clinical Genetics, Karolinska Hospital, P.O.Box 60 500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 700 1- Anvret Maria Department of Clinical Genetics, Karolinska Hospital, P.O.Box 60 500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/3(1990-02-01), 241-243 0340-6717 84:3<241 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer