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Mutations in the Human Factor XII Gene
Manfred Schloesser,
Sacha Zeerleder,
Gerd Lutze,
Walter-Michael Halbmayer,
Sigrun Hofferbert,
Bernd Hinney,
Heinz Koestering,
Bernhard Lämmle,
Gerhard Pindur,
Karsten Thies,
Michael Köhler, and
Wolfgang Engel
From the Institut fuer Humangenetik der Universitaet Goettingen, Goettingen, Germany; Haematologisches Zentrallabor, Inselspital Universitaetsspital Bern, Bern, Switzerland; Institut fuer Klinische Chemie, Universitaet Magdeburg, Magdeburg, Germany; Institut fuer Laboratoriumsmedizin, Krankenhaus der Stadt Wien-Lainz, Wien, Austria; Frauenklinik der Universitaet Goettingen, Goettingen, Germany; Abteilung fuer Haematologie und Onkologie der Universitaet Goettingen, Goettingen, Germany; Klinische Haemostasiologie, Universitaetsklinik des Saarlands, Homburg/Saar, Germany; Institut fuer Transfusionsmedizin der Universitaet Goettingen, Goettingen, Germany; and Institut fuer Transfusionsmedizin, Ludwigshafen, Germany.
The factor XII gene from 31 unrelated factor XII-deficient patients from Germany, Switzerland, and Austria was screened for mutations at the genomic level. Several novel mutations were detected and their absence in a control group of 74 healthy unrelated individuals was checked. Most changes are in the serine protease domain affecting the catalytic triad His-393-Asp-442-Ser-544; two missense mutations, R398Q (arginine 398 to glutamine; gene bank accession no. U71276) and L395M (leucine 395 to methionine; gene bank accession no. U71277), are close to the active site histidine at position 393. Another mutation detected in a cross-reacting material (CRM)-positive female with a history of three abortions affects the active site aspartic acid by changing it to asparagine (D442N; gene bank accession no. U71275). The novel mutation G570R (glycine 570 to arginine; gene bank accession no. U71274) giving rise to a CRM-positive phenotype is located next to Cys571, which forms a vital disulfide bridge. Two mutations are causing reading frame shifts: one single basepair deletion in exon 12 [exon 12: 10590(DelC); gene bank accession no. U71278] and one acceptor splice site mutation [exon 14: 11397(G  A); gene bank accession no. L43615]. The putative regulatory mutation exon 1:-8 (g c) in the upstream region of the gene is associated with an aberrant Taq I restriction site allele in intron B of the gene (gene bank accession no. X80393).
Blood, Vol. 90 No. 10 (November 15), 1997:
pp. 3967-3977
© 1997 by The American Society of Hematology.
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