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a=86400 A novel 5′-upstream mutation in the factor X11 gene is associated with a Taql restriction site in an Alu repeat in factor X11-deficient patients | Human Genetics Skip to main content
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A novel 5′-upstream mutation in the factor X11 gene is associated with a Taql restriction site in an Alu repeat in factor X11-deficient patients

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Abstract

The factor XII gene from factor XII-deficient patients was screened for mutations at the genomic level. In patients negative for cross-reacting material, a T to C transition 224 by upstream of exon 3 was identified (exon 3–224 (T→C)) that creates an additionalTaqI restriction site in intron B. This mutation is located within a putative hormone responsive element and within a B box promoter of an Alu repeat of the Sb0 family. TheTaqI site is associated with a G to C transversion upstream of the transcription initiation site (exon 1–8 (G→C)). We discuss the possible roles of these elements in factor XII gene regulation.

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References

  • Bernardi F, Marchetti G, Patracchini P, Senno L del, Tripodi N, Fantoni A, Bartolai S, Vannini F, Felloni L, Rossi L, Panicucchi F, Conconi F (1987) Factor XII gene alteration in Hageman trait detected byTaqI restriction enzyme. Blood 69:1421–1424

    CAS  PubMed  Google Scholar 

  • Braulke I, Pruggmayer M, Melloh P, Hinney B, Koestering H, Guenther E (1993) Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters? Fertil Steril 59:98–101

    CAS  PubMed  Google Scholar 

  • Cool DE, MacGillivray RTA (1987) Characterization of the human blood coagulation factor XII gene: intron/exon gene organization and analysis of the 5-prime flanking region. J Biol Chem 262:13662–13673

    CAS  PubMed  Google Scholar 

  • Fuhrer G, Gallimore MJ, Heller W, Hoffmeister HE (1990) FXII. Blut 61:258–266

    Article  CAS  PubMed  Google Scholar 

  • Goodnough LT, Saito M, Radnoff OD (1983) Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases. Medicine (Baltimore) 62:248–255

    CAS  Google Scholar 

  • Gordon EM, Ratnoff OD, Saito H, Donaldson VH, Pensky J, Jones PK (1980) Rapid fibrinolysis, augmented Hageman factor (factor XII) and decreased C1 esterase inhibitor titers in women taking oral contraceptives. J Lab Clin Med 96:762–769

    CAS  PubMed  Google Scholar 

  • Jurka J, Milosavljevic A (1991) Reconstruction and analysis of human Alu genes. J Mol Evol 32:105–121

    CAS  PubMed  Google Scholar 

  • Kass DH, Aleman C, Batzer MA, Deininger PL (1994) Identification of a human specific Alu insertion in the factor XIIIB gene. Genetica 94:1–8

    Article  CAS  PubMed  Google Scholar 

  • Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41–54

    Article  CAS  PubMed  Google Scholar 

  • Mannhalter C, Fischer M, Hopmeier P, Deutsch E (1987) Factor XII activity and antigen concentrations in patients suffering from recurrent thrombosis. Fibrinolysis 1:259–263

    Article  Google Scholar 

  • Myata T, Kawabata AI, Iwanaga S, Takahashi I, Aving B, Saito H (1989) Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571-Ser substitution. Proc Natl Acad Sci USA 86:8319–8322

    Google Scholar 

  • Olds RJ, Lane DA, Chouwdry V, De Stefano V, Leone G, Thein SL (1993) Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 32:4216–4224

    Article  CAS  PubMed  Google Scholar 

  • Schloesser M, Slomski R, Wagner M, Reiss J, Berg LP, Kakkar VV, Copper D (1990) Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier. Mol Biol Med 7:519–523

    CAS  PubMed  Google Scholar 

  • Schloesser M, Arleth S, Lenz U, Bertele RM, Reiss J (1991) A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1. J Med Genet 28:878–880

    CAS  PubMed  Google Scholar 

  • Schloesser M, Hofferbert S, Bartz U, Lutze G, Laemmle B, Engel W (1995) The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. Hum Mol Genet 4:1235–1237

    CAS  PubMed  Google Scholar 

  • Schved JF, Gris JC, Neveu S, Mares P, Sarlat C (1988) Variations of factor XII during pregnancy in a woman with Hageman factor deficiency. Thromb Haemost 60:526–527

    CAS  PubMed  Google Scholar 

  • Spritz RA, Jagadeeswaran P, Choudary PV, Biro PA, Elder JT, deRiel JK, Manley JL, Gefter ML, Forget BG, Weissman SM (1981) Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci USA 78: 2455–2459

    CAS  PubMed  Google Scholar 

  • Tripodi M, Citarella F, Guida S, Galeffi P, Fantoni A, Cortese R (1986) cDNA sequence coding for human coagulation factor XII (Hageman). Nucleic Acids Res 13: 3146

    Google Scholar 

  • Vansant G, Reynolds WF (1995) The consensus sequence of a major Alu subfamily contains a functional retinoic acid response element. Proc Natl Acad Sci USA 92:8229–8233

    CAS  PubMed  Google Scholar 

  • Wuillemin WA, Huber I, Furlan M, Laemmle B (1991) Functional characterization of an abnormal factor XII molecule (FXII Bern). Blood 78:997–1004

    CAS  PubMed  Google Scholar 

  • Zhang Z, Kolvraa S, Zhou Y, Kelly DP, Gregersen N, Strauss AW (1993) Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats. Am J Hum Genet 52:1111–1121

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Institut für Humangenetik der Universität Göttingen, Gosslerstrasse 12d, D-37073, Göttingen, Germany

    Sigrun Hofferbert, Jens Müller & Manfred Schloesser

  2. Gerinnungslabor, Universität Göttingen, D-37073, Göttingen, Germany

    Heinz Köstering

  3. Lehmbrink 1a, D-32825, Blomberg, Germany

    Wolf-Diedrich von Ohlen

Authors
  1. Sigrun Hofferbert
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  2. Jens Müller
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  3. Heinz Köstering
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  4. Wolf-Diedrich von Ohlen
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  5. Manfred Schloesser
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Corresponding author

Correspondence to Manfred Schloesser.

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Hofferbert, S., Müller, J., Köstering, H. et al. A novel 5′-upstream mutation in the factor X11 gene is associated with a Taql restriction site in an Alu repeat in factor X11-deficient patients. Hum Genet 97, 838–841 (1996). https://doi.org/10.1007/BF02346200

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  • DOI: https://doi.org/10.1007/BF02346200

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