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Clinical and Applied Thrombosis/Hemostasis
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Fibrinogen Seoul (FGG Ala341Asp): A Novel Mutation Associated With Hypodysfibrinogenemia

Kyung Soon Song, MD

Noh Jin Park, MD

Jong Rak Choi, MD

Department of Laboratory Medicine Seoul, Korea

Hyun Joo Doh, PhD

Kwang Hoe Chung, PhD

Department of Cardiovascular Research Institute, Yonsei University College of Medicine, Seoul, Korea

Dysfibrinogenemia is a coagulation disorder caused by a variety of structural abnormalities in the fibrinogen molecule that result in fibrinogen function. The molecular basis of hypodysfibrinogenemia was investigated in a 66-year-old woman with peripheral artery obstructive disease and in her family members. Plasma level of functional fibrinogen determined using the Clauss method was lower (75 mg/dL; normal, 140–460 mg/dL) than that measured with immunologic nephelometric assay (137 mg/dL; normal, 180–400 mg/dL). Similar results were also observed in two family members through two generations. DNA was extracted from whole blood, and the coding regions and intron/exon boundaries of gamma chain gene (FGG) were amplified. A novel (Fibrinogen Seoul) heterozygous FGG mutation (GCT->GAT, Ala341Asp) was identified in all three affected family members. Thrombin-catalyzed polymerization was found to be defective on the analysis of purified fibinogen from the propositus. Molecular modeling also showed a conformational change of fibrinogen structure.

Key Words: Fibrinogen • Dysfibrinogen • Hypofibrinogenemia • Thrombosis

Clinical and Applied Thrombosis/Hemostasis, Vol. 12, No. 3, 338-343 (2006)
DOI: 10.1177/1076029606291383
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