caa a22 4500 467986142 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19900701xx s 000 0 eng 10.1007/BF00193188 doi (NATIONALLICENCE)springer-10.1007/BF00193188 Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene [Elektronische Daten] [G. Scobie, A. Urquhart, G. Elder, N. Kalsheker, D. Llewellyn, J. Smyth, P. Harrison] 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. Springer-Verlag, 1990 Scobie G. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut Urquhart A. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut Elder G. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut Kalsheker N. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut Llewellyn D. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut Smyth J. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut Harrison P. Beatson Institute for Cancer Research, Bearsden, Glasgow, UK aut Human Genetics Springer-Verlag 85/2(1990-07-01), 157-159 0340-6717 85:2<157 1990 85 439 https://doi.org/10.1007/BF00193188 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193188 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Scobie G. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut NATIONALLICENCE 700 1- Urquhart A. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut NATIONALLICENCE 700 1- Elder G. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut NATIONALLICENCE 700 1- Kalsheker N. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut NATIONALLICENCE 700 1- Llewellyn D. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut NATIONALLICENCE 700 1- Smyth J. Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, CF4 4XN, Cardiff, UK aut NATIONALLICENCE 700 1- Harrison P. Beatson Institute for Cancer Research, Bearsden, Glasgow, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/2(1990-07-01), 157-159 0340-6717 85:2<157 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer