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. |
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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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