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
- 2016.1
- 수록면
- 291 - 299 (9page)
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초록· 키워드
오류제보하기
Background: Mutations in calreticulin (CALR) have been reported to be key markers in the molecular diagnosis of myeloid proliferative neoplasms. In most previous reports, CALR mutations were analyzed by using Sanger sequencing. Here, we report a new, rapid, and convenient system for screening CALR mutations without sequencing.
Methods: Eighty-three bone marrow samples were obtained from 81 patients with thrombocytosis. PCR primers were designed to detect wild-type CALR (product: 357 bp) and CALR with type 1 (product: 302 bp) and type 2 mutations (product: 272 bp) in one reaction. The results were confirmed by Sanger sequencing and compared with results from fragment analysis.
Results: The minimum detection limit of the screening PCR was 10 ng for type 1, 1 ng for type 2, and 0.1 ng for cases with both mutations. CALR type 1 and type 2 mutants were detected with screening PCR with a maximal analytical sensitivity of 3.2% and <0.8%, respectively. The screening PCR detected 94.1% (16/17) of mutation cases and showed concordant results with sequencing in the cases of type 1 and type 2 mutations. Sanger sequencing identified one novel mutation (c.1123_1132delinsTGC). Compared with sequencing, the screening PCR showed 94.1% sensitivity, 100.0% specificity, 100.0% positive predictive value, and 98.5% negative predictive value. Compared with fragment analysis, the screening PCR presented 88.9% sensitivity and 100.0% specificity.
Conclusions: This screening PCR is a rapid, sensitive, and cost-effective method for the detection of major CALR mutations.
목차
등록된 정보가 없습니다.
참고문헌 (21)
참고문헌 신청
Campbell PJ / 2006 / The myeloproliferative disorders / N Engl J Med 355:2452~2466
Guglielmelli P / 2014 / CALR mutations in myeloproliferative neoplasms: hidden behind the reticulum / Am J Hematol 89:453~456
Nangalia J / 2013 / Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2 / N Engl J Med 369:2391~2405
Klampfl T / 2013 / Somatic mutations of calreticulin in myeloproliferative neoplasms / N Engl J Med 369:2379~2390
Cabagnols X / 2015 / Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution / Leukemia 29:249~252
Guglielmelli P / 2014 / CALR mutations in myeloproliferative neoplasms: hidden behind the reticulum / Am J Hematol 89:453~456
Nangalia J / 2013 / Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2 / N Engl J Med 369:2391~2405
Klampfl T / 2013 / Somatic mutations of calreticulin in myeloproliferative neoplasms / N Engl J Med 369:2379~2390
Cabagnols X / 2015 / Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution / Leukemia 29:249~252
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