Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders.
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.
Murata
M
M
Department of Molecular Pathological Biochemistry, Yamagata University School of Medicine, Iida-Nishi, Japan.
Ooe
A
A
Izumi
T
T
Nakagawa
M
M
Takahashi
S
S
Ishikawa
M
M
Mori
K
K
Ichinose
A
A
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000409:Alanine / Q000235:genetics; D001483:Base Sequence; D015862:Choroid Diseases / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016491:Peripheral Vascular Diseases / Q000175:diagnosis* / Q000235:genetics; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D013912:Threonine / Q000235:genetics
D013912:Threonine; D010958:Plasminogen; D000409:Alanine