Human Genetics

, Volume 97, Issue 6, pp 838–841 | Cite as

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

  • Sigrun Hofferbert
  • Jens Müller
  • Heinz Köstering
  • Wolf-Diedrich von Ohlen
  • Manfred SchloesserEmail author
Rapid Communication


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.


Internal Medicine Gene Regulation Metabolic Disease Restriction Site Initiation Site 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Sigrun Hofferbert
    • 1
  • Jens Müller
    • 1
  • Heinz Köstering
    • 2
  • Wolf-Diedrich von Ohlen
    • 3
  • Manfred Schloesser
    • 1
    Email author
  1. 1.Institut für Humangenetik der Universität GöttingenGöttingenGermany
  2. 2.GerinnungslaborUniversität GöttingenGöttingenGermany
  3. 3.BlombergGermany

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