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Molecular genetic survey of five Japanese families with high-molecular-
weight kininogen deficiency
H Hayashi, F Ishimaru, T Fujita, N Tsurumi, T Tsuda and I Kimura
Departments of Blood Transfusion and Internal Medicine, Okayama University
Medical School, Japan.
Analyses of the kininogen (KGN) molecule and KGN gene status in five
Japanese families with high-molecular-weight (HMW) KGN deficiency were
performed by the immunoblotting method with monoclonal antibodies to
HMW-KGN, and by the Southern blotting method with the cDNA for human
low-molecular-weight prekininogen. No molecular abnormality of KGN was
detected in the DNA from four patients with total KGN deficiency or one
patient with isolated HMW-KGN deficiency. In the former, the KGN gene
appeared to be grossly normal at the level of the whole genome on Southern
blotting. In isolated HMW-KGN deficiency, a partial deletion in intron 7
was found by restriction analyses of EcoRI, BamHI, HindIII, Sca I, and Bgl
II fragments. This partial deletion is assumed to be related to an
abnormality of the alternative RNA splicing events for HMW-prekininogen
mRNA.
Volume 75,
Issue 6,
pp. 1296-1304,
03/15/1990
Copyright © 1990 by The American Society of Hematology
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