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Blood, Vol. 92 No. 8 (October 15), 1998:
pp. 2766-2770
The Val34Leu Polymorphism in the A Subunit of Coagulation Factor XIII
Contributes to the Large Normal Range in Activity and Demonstrates
That the Activation Peptide Plays a Role in Catalytic Activity
S. Kangsadalampai and
P.G. Board
From the Molecular Genetics Group, John Curtin School of Medical
Research, Australian National University, Canberra, Australia.
There is a wide normal range of coagulation factor XIII activity
that has never been adequately explained. A polymorphism substituting
leucine for valine at position 34 in the activation peptide of the A
subunit of factor XIII has recently been discovered in nondeficient
individuals, and the present studies indicate that the leucine
substitution results in a significant increase in transglutaminase
activity. The frequency of the Leu34 allele in the Australian Caucasian
population is 0.27, which is high enough to suggest that the
inheritance of either the Val34 or Leu34 alleles may contribute to the
wide normal range of activity. Although there has been structural
evidence indicating that the activation peptide does not dissociate
from the enzyme after thrombin cleavage, the discovery of elevated
activity resulting from the Leu34 substitution is the first direct
evidence that the activation peptide plays a continuing role in the
function of factor XIII.
© 1998 by The American Society of Hematology.
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