Rapid Communication

Human Genetics

, Volume 97, Issue 6, pp 838-841

First online:

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 HofferbertAffiliated withInstitut für Humangenetik der Universität Göttingen
  • , Jens MüllerAffiliated withInstitut für Humangenetik der Universität Göttingen
  • , Heinz KösteringAffiliated withGerinnungslabor, Universität Göttingen
  • , Wolf-Diedrich von OhlenAffiliated with
  • , Manfred SchloesserAffiliated withInstitut für Humangenetik der Universität Göttingen Email author 

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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.