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Tuberc Respir Dis > Volume 64(6); 2008 > Article
Tuberculosis and Respiratory Diseases 2008;64(6):466-470.
DOI: https://doi.org/10.4046/trd.2008.64.6.466    Published online June 1, 2008.
A Case of Pulmonary Embolism in a Patient with a Factor VII Gene Promoter -401G/A Polymorphism.
Bo Ram Min, , Shin Kim, , Ji Hae Park, , Jin Nyeong Chae, , Won Il Choi,
1Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea. wichoi@dsmc.or.kr
2Department of Immunology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Abstract
A factor VII gene -401 G/A polymorphism was identified in a patient with a pulmonary embolism. The patient was a 71-year-old woman who presented with acute-onset dyspnea. A chest CT scan revealed a pulmonary embolism. Despite the administration of low-dose warfarin as anticoagulation therapy, there was an excessively prolonged prothrombin time (PT). The blood tests revealed lower factor VII activity than normal. Full factor VII gene sequencing revealed a G to A substitution at ?401 in the promoter region. There were no other gene sequence anomalies. PCR-based analysis indicated lower factor VII gene expression in the patient than in a control subject. The data suggested the promoter polymorphism to be responsible for the lower transcription level. In conclusion, we encountered a case of Factor VII DNA polymorphism in a patient with a pulmonary embolism showing significantly reduced Factor VII activity.
Key Words: Factor VII, Pulmonary embolism, Genetic polymorphism


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