title: 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.
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.
authors.affiliation: Institut für Humangenetik, Universität Göttingen, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Hofferbert
authors.forename: J
authors.initials: J
authors.lastname: Müller
authors.forename: H
authors.initials: H
authors.lastname: Köstering
authors.forename: W D
authors.initials: WD
authors.lastname: von Ohlen
authors.forename: M
authors.initials: M
authors.lastname: Schloesser
mesh_terms: D000328:Adult; D001483:Base Sequence; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons / Q000235:genetics; D005174:Factor XII / Q000235:genetics*; D005175:Factor XII Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
chemical_list: D005174:Factor XII; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases