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Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly
Author(s) -
Wang W.,
Fu Q.,
Zhou R.,
Wu W.,
Ding Q.,
Hu Y.,
Wang X.,
Wang H.,
Wang Z.
Publication year - 2004
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1046/j.1365-2516.2003.00838.x
Subject(s) - prothrombin time , partial thromboplastin time , thromboplastin , medicine , coagulation , mutation , autosomal recessive trait , genetics , endocrinology , gene , biology
Summary. Prothrombin deficiency is a rare bleeding disorder inherited as an autosomal recessive trait. In this study, we reported a Chinese family with hereditary prothrombin deficiency. The proposita had a prolonged activated partial thromboplastin time (APTT, 71.6 s) and prothrombin time (PT, 28.0 s). The coagulation factors activities were normal except that prothrombin coagulation activity was markedly reduced, and the prothrombin antigen level was moderately decreased. Nucleotide sequencing of amplified DNA revealed a novel mutation, Glu (G A G) to Gly (G G G) at residue 29, which normally undergoes γ ‐carboxylation within the Gla domain of prothrombin. The proposita was identified as homozygous, while her father, mother and maternal grandmother were heterozygous for the mutation. Gla29 has been demonstrated as one of the key residue for Ca 2+ ‐binding, membrane interaction and biological activity of prothrombin.