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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 and L Rossi
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.
Volume 69,
Issue 5,
pp. 1421-1424,
05/01/1987
Copyright © 1987 by The American Society of Hematology
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