Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.
Plasminogen is a key proenzyme in the fibrinolytic and thrombolytic systems. Congenital deficiency of plasminogen and molecular abnormality of plasminogen (dysplasminogenemia) have been reported in association with the thrombotic tendency in human. In dysplasminogenemia, the level of immunoreactive plasminogen is normal, although the functional activity is reduced. Human plasminogen gene spans about 52.5 kb of DNA and consists of 19 exons. Three types of mutations (Ala601Thr, Val355Phe, and Asp676Asn) have been described in dysplasminogenemia. In this study, we measured the plasminogen activity in patients with deep vein thrombosis and analyzed the DNA sequence to detect three point mutations (Ala601Thr, Val355Phe and Asp676Asn) in patients with hypo/dysplasminogenemia. Dysplasminogenemia was identified in 3 (8.3%) of unrelated 36 patients with deep vein thrombosis and the Ala601Thr mutation was detected in all three patients with dysplasminogenemia. In conclusion, dysplasminogenemia is not rare in deep vein thrombosis, which suggests a risk factor for the thrombosis in Korean population.
Song
Kyung Soon
KS
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. kssong@yumc.yonsei.ac.kr
Lee
Seung Moo
SM
Choi
Jong Rak
JR
D000328:Adult; D000368:Aged; D000409:Alanine / Q000378:metabolism*; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D010958:Plasminogen / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D013912:Threonine / Q000378:metabolism*; D020246:Venous Thrombosis / Q000097:blood / Q000235:genetics*
D013912:Threonine; D010958:Plasminogen; D000409:Alanine