caa a22 4500 467984069 CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900401xx s 000 0 eng 10.1007/BF00195805 doi (NATIONALLICENCE)springer-10.1007/BF00195805 Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs [Elektronische Daten] [D. Koeberl, C. Bottema, G. Sarkar, R. Ketterling, S. Chen, S. Sommer] Summary: Direct sequencing of the regions of the factor IX gene of likely functional significance was performed in four patients with severe hemophilia B. In two of the individuals, a transition at the dinucleotide CpG caused a nonsense mutation at arginine 333. In the other two individuals, a transition at CpG caused a nonsense mutation at arginine 29. Since these patients are all unrelated, as shown by differing alleles of the TaqI polymorphism in intron four or extensive nonoverlapping pedigrees, the mutations arose independently. In addition, the origin of one arginine 333 mutation in one family has been traced to the germline of the maternal grandfather. The frequent occurrence of mutations at arginine codons that contain the sequence CGN can be explained by the dramatic elevation of transitions at CpG. As a result, approximately one in four individuals with hemophilia B is expected to have a mutation at arginine and nonsense mutations at one of six arginine residues should be common causes of severe hemophilia. Springer-Verlag, 1990 Koeberl D. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut Bottema C. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut Sarkar G. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut Ketterling R. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut Chen S. Department of Pediatrics, RD-20, University of Washington, 98195, Seattle, WA, USA aut Sommer S. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut Human Genetics Springer-Verlag 84/5(1990-04-01), 387-390 0340-6717 84:5<387 1990 84 439 https://doi.org/10.1007/BF00195805 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00195805 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Koeberl D. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut NATIONALLICENCE 700 1- Bottema C. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut NATIONALLICENCE 700 1- Sarkar G. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut NATIONALLICENCE 700 1- Ketterling R. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut NATIONALLICENCE 700 1- Chen S. Department of Pediatrics, RD-20, University of Washington, 98195, Seattle, WA, USA aut NATIONALLICENCE 700 1- Sommer S. Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905, Rochester, MN, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/5(1990-04-01), 387-390 0340-6717 84:5<387 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer