Seminars in Thrombosis and Hemostasis, Inhaltsverzeichnis Semin Thromb Hemost 1996; 22(5): 385-391DOI: 10.1055/s-2007-999036 Copyright © 1996 by Thieme Medical Publishers, Inc. The Normal and Abnormal Genes of the a and b Subunits in Coagulation Factor XIII Akitada Ichinose, Tomonori Izumi, Teruto Hashiguchi From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan. Artikel empfehlen Abstract als PDF herunterladen Artikel einzeln kaufen Abstract Factor XIII consists of two catalytic a and two noncatalytic b subunits. The gene for the a subunit is located on chromosome 6, the gene for the b subunit on chromosome 1. Both genes have been characterized. There are several different allelic forms of the a subunit in the normal population and some microheterogeneity for the b subunit. Most patients with congenital factor XIII deficiency lack the a subunit in plasma; few patients appear to have a complete lack of the b subunit. The genes from patients with factor XIII deficiencies were obtained and examined. Based on these analyses a new genetic classification for factor XIII deficiency is proposed: a deficiency of the a subunit (formerly termed type II), a deficiency of the b subunit (formerly known as type I), and a possible combined deficiency of both a and b subunits. Key words: Transglutaminase - Sushi domain - gene structure - factor XIII deficiencies - genetic analyses PDF (963 kb)
