폐색전증 환자에서 발견된 Factor VII 유전자의 프로모터 -401G/A 다형성 1예

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. (Tuberc Respir Dis 2008;64:466-470) Key Words: Factor VII, Pulmonary embolism, Genetic polymorphism

저자들은 저자들은 폐색전증이 발생한 환자에서 기저질 환을 조사하던 중 Factor VII 활성도 저하를 관찰하였고, 이 환자에게서 Factor VII 유전자의 프로모터 -401의 단염 기 치환(G→A)을 발견하여 보고하며, 국내에도 Factor VII 유전자 다형성이 존재함을 밝히며, Factor VII 활성도 감소 와 폐색전증이 동반된 환자를 보고하는 바이다.