지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.12
- 수록면
- 252 - 258 (7page)
- DOI
- 10.5045/br.2021.2021016
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초록· 키워드
오류제보하기
Background Hemophilia B (HB) is an X-linked bleeding disorder resulting from coagulation factor IX defects. Over 3,000 pathogenic, HB-associated mutations in the F9 gene have been identified. We aimed to investigate the role of F9 variants in 150 HB patients using sequencing technology.
Methods F9 gene sequences were amplified from peripheral blood-derived DNA and sequenced on an Applied Biosystems (ABI) 3500 Sanger sequencing platform. Functional and structural predictions of mutant FIX were analyzed.
Results Among 150 HB patients, 102 (68%), 30 (20%), and 18 (12%) suffered from severe, moderate, and mild HB, respectively. Genetic analysis identified 16 mutations, including 3 novel mutations. Nine mutations (7 missense and 2 stop-gain) were found to be pathogenic.
Only 3 mutations (c.127C＞T, c.470G＞A, and c.1070G＞A) were associated with different severities. While 2 mutations were associated with mild HB cases (c.304C＞T and c.580A＞G), 2 (c.195G＞A and c.1385A＞G) and 3 mutations (c.223C＞T, c.1187G＞A, and c.1232G＞A) resulted in moderate and severe disease, respectively. Additionally, 1 mutation each was associated with mild-moderate (c.*1110A＞G) and mild-severe HB disease (c.197A＞T), 4 mutations were associated with moderate-severe HB cases (c.314A＞G, c.198A＞T, c.676C＞T, and c.1094C＞A). FIX concentrations were lower in the mutated group (5.5±2.5% vs. 8.0±2.5%). Novel p.E66D and p.S365 mutations were predicted to be pathogenic based on changes in FIX structure and function.
Conclusion Novel single nucleotide polymorphisms (SNPs) largely contributed to the pathogenesis of HB. Our study strongly suggests that population-based genetic screening will be particularly helpful to identify risk prediction and carrier detection tools for Indian HB patients.
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참고문헌 (29)
참고문헌 신청
Yu T / 2012 / Spectrum of F9 mutations in Chinese haemophilia B patients : identification of 20 novel mutations / Pathology 44:342~347
Rosendaal FR / 1991 / Hemophilia treatment in historical perspective : a review of medical and social developments / Ann Hematol 62:5~15
Mannucci PM / 2003 / Treatment of hemophilia : recombinant factors only? No / J Thromb Haemost 1:216~217
Goodeve AC / 2015 / Hemophilia B : molecular pathogenesis and mutation analysis / J Thromb Haemost 13:1184~1195
Parrado Jara YA / 2020 / Molecular characterization of hemophilia B patients in Colombia / Mol Genet Genomic Med 8:e1210
Rosendaal FR / 1991 / Hemophilia treatment in historical perspective : a review of medical and social developments / Ann Hematol 62:5~15
Mannucci PM / 2003 / Treatment of hemophilia : recombinant factors only? No / J Thromb Haemost 1:216~217
Goodeve AC / 2015 / Hemophilia B : molecular pathogenesis and mutation analysis / J Thromb Haemost 13:1184~1195
Parrado Jara YA / 2020 / Molecular characterization of hemophilia B patients in Colombia / Mol Genet Genomic Med 8:e1210
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