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    Hum Genet. 1996 Jun;97(6):838-41.

    A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.

    Hofferbert S, Müller J, Köstering H, von Ohlen WD, Schloesser M.

    Institut für Humangenetik, Universität Göttingen, Germany.

    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.

    PMID: 8641707 [PubMed - indexed for MEDLINE]

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