Detection of an Ala601Thr Mutation of Plasminogen Gene in 3 out of 36 Korean Patients with Deep Vein Thrombosis.
10.3346/jkms.2003.18.2.167
- Author:
Kyung Soon SONG
1
;
Seung Moo LEE
;
Jong Rak CHOI
Author Information
1. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. kssong@yumc.yonsei.ac.kr
- Publication Type:Original Article
- Keywords:
Plasminogen;
Thrombosis;
Mutation;
Venous Thrombosis
- MeSH:
Adult;
Aged;
Alanine/metabolism*;
Female;
Human;
Korea;
Male;
Middle Aged;
Plasminogen/genetics*;
Plasminogen/metabolism;
Point Mutation*;
Risk Factors;
Sequence Analysis, DNA;
Threonine/metabolism*;
Venous Thrombosis/blood;
Venous Thrombosis/genetics*
- From:Journal of Korean Medical Science
2003;18(2):167-170
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
