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Tuberculosis & Respiratory Diseases

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Vol.64 No.6
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A Case of Pulmonary Embolism in a Patient with a Factor Ⅶ Gene Promoter -410G/A Polymorphism

Tuberculosis & Respiratory Diseases / Tuberculosis & Respiratory Diseases,
2008, v.64 no.6, pp.466-470





& (2008). A Case of Pulmonary Embolism in a Patient with a Factor Ⅶ Gene Promoter -410G/A Polymorphism. Tuberculosis & Respiratory Diseases, 64(6), 466-470.
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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.

keywords
Factor VII, Pulmonary embolism, Genetic polymorphism

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