A novel 5'-upstream mutation in the factor XII gen...[Hum Genet. 1996]

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

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]

[The genetics of factor XII deficiency] [Beitr Infusionsther. 1993]
A frequent factor XII gene mutation in Hageman trait. [Hum Genet. 1988]
The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. [Hum Mol Genet. 1995]
Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. [Blood. 1999]
Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme. [Blood. 1987]

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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 factor XII-deficient patients.

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