Human Genetics

, Volume 97, Issue 6, pp 838–841

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 Schloesser
Rapid Communication

DOI: 10.1007/BF02346200

Cite this article as:
Hofferbert, S., Müller, J., Köstering, H. et al. Hum Genet (1996) 97: 838. doi:10.1007/BF02346200
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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.

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
  1. 1.Institut für Humangenetik der Universität GöttingenGöttingenGermany
  2. 2.GerinnungslaborUniversität GöttingenGöttingenGermany
  3. 3.BlombergGermany

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