폐색전증 환자에서 발견된 Factor Ⅶ 유전자의 프로모터 -41G/A 다형성 1예

• Published in: Tuberculosis and respiratory diseases pp. 466 - 470
• Main Authors: 민보람, 김신, 박지혜, 채진녕, 최원일
• Format: Journal Article
• Language: Korean
• Published: 대한결핵및호흡기학회 01-06-2008
• Subjects: 내과학
• ISSN: 1738-3536; 2005-6184

저자들은 폐색전증이 발생한 환자에서 기저질환을 조사하던 중 Factor VI 활성도 저하를 관찰하였고, 이 환자에게서 Factor VI 유전자의 프로모터 -401의 단염기 치환(G→A)을 발견하여 보고하며, 국내에도 Factor VI 유전자 다형성이 존재함을 밝히며, Factor VI 활성도 감소와 폐색전증이 동반된 환자를 보고하는 바이다. 감사의 글본 증례보고의 작성에 도움을 주신 계명대학교 의과학 연구소 이영미 선생님께 깊은 감사의 뜻을 전합니다. 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. KCI Citation Count: 0