Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme

F. Bernardi, G. Marchetti, P. Patracchini, L. del Senno, M. Tripodi, A. Fantoni, S. Bartolai, F. Vannini, L. Felloni, L. Rossi

Research output: Contribution to journalArticle

Abstract

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5' portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

Original languageEnglish
Pages (from-to)1421-1424
Number of pages4
JournalBlood
Volume69
Issue number5
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Hematology

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    Bernardi, F., Marchetti, G., Patracchini, P., del Senno, L., Tripodi, M., Fantoni, A., Bartolai, S., Vannini, F., Felloni, L., & Rossi, L. (1987). Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme. Blood, 69(5), 1421-1424.