혈우병 A의 발병에 관여하는 유전적 요인

• 영문명: Genetic Risk Factors of Hemophilia A
• 발행기관: 대한의학유전학회
• 저자명: 심예지(Ye Jee Shim) 이건수(Kun Soo Lee)
• 간행물 정보: 『대한의학유전학회지』제7권 제1호, 1~8쪽, 전체 8쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2010.06.30

영문 초록

Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor Ⅷ gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor Ⅷ, and in turn the severity of bleeding episodes and development of alloantibodies against factor Ⅷ (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.

목차

서론

Ⅷ 인자 유전자와 Ⅷ 인자의 특성

혈우병 A 발병에 관여하는 유전자 이상

Ⅷ 인자 항체 형성에 관여하는 유전자 이상

참고문헌

키워드

Hemophilia A Factor Ⅷ gene Mutation Inhibitor