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Ala601‐Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders
Author(s) -
Murata Masatoshi,
Ooe Asako,
Izumi Tomonori,
Nakagawa Michihiro,
Takahashi Shigeki,
Ishikawa Masaaki,
Mori Kazuo,
Ichinose Akitada
Publication year - 1997
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.1365-2141.1997.4103229.x
Subject(s) - pathogenesis , polymerase chain reaction , medicine , restriction fragment length polymorphism , genetics , polymorphism (computer science) , pathology , biology , genotype , gene
Dysplasminogenaemia has been reported in patients with retinochoroidal vascular disorders. The precise genetic defects of these cases, however, remain unclear because of the limitations of conventional diagnostic techniques. In this study, three patients with these diseases were investigated at the DNA level for the first time to define the molecular bases of these disorders. Polymerase chain reaction–restriction fragment length polymorphism analysis revealed that all three cases carried the same Ala601‐Thr mutation. This defect may also play a role in the pathogenesis of circulation disorders in small local vessels because of reduced fibrinolytic activity due to decreased functional plasminogen levels.