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A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in
S Hofferbert1, J Müller, H Köstering
1Institut für Humangenetik, Universität Göttingen, Germany.
Human Genetics
|June 1, 1996
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 bp upstream of exon 3 was identified (exon 3-224 (T --> C)) that creates an additional TaqI 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. The TaqI 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.