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Plasminogen Kanagawa‐I, a novel missense mutation, is caused by the amino acid substitution G732R
Author(s) -
Higuchi Yumiko,
Furihata Kenichi,
Ueno Ichiro,
Ishikawa Shinsuke,
Okumura Nobuo,
Tozuka Minoru,
Sakurai Noriko
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.01074.x
Subject(s) - missense mutation , proband , exon , heterozygote advantage , mutation , medicine , compound heterozygosity , endocrinology , microbiology and biotechnology , amino acid substitution , biology , chemistry , genetics , genotype , gene
A new dysplasminogen, plasminogen Kanagawa‐I, was identified in a healthy male with no previous thrombotic episodes. His plasma plasminogen (PLG) activity was 51.4% of that of normal pooled plasma (reference interval 70–130%) and the antigen level was 94.2% of that of normal pooled plasma (reference interval 80–150%). Nucleotide sequencing revealed a heterozygous G to A transition in exon 18, which resulted in an amino acid substitution of G732R. Both the proband's father and paternal grandfather were heterozygous for this mutation. Interestingly, the grandfather was found to be a compound heterozygote for plasminogen Kanagawa‐I and Tochigi (A601T), so that his plasminogen activity and antigen level was 7.7% and 87.2% of that of normal pooled plasma, respectively. However, he has never been affected by significant thrombosis.