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

Other Titles
A Case of Pulmonary Embolism in a Patient with a Factor VII Gene Promoter -401G/A Polymorphism
Authors
민보람김신박지혜채진녕최원일
Department
Dept. of Internal Medicine (내과학); Dept. of Immunology (면역학)
Issue Date
2008
Citation
결핵 및 호흡기 질환, Vol.64(6) : 466-470, 2008
ISSN
1738-3536
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.
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/37334
Appears in Collections:
1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Immunology (면역학)
Keimyung Author(s)
최원일; 김신
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