title: Development of a high-resolution melting analysis for the detection of the SF3B1 mutations.
abstract: SF3B1, located on chromosome 2q33.1, encodes a core component of RNA-splicing machinery, and its mutation has been described in myelodysplastic syndromes (MDS) characterized with ring sideroblasts (RS). To explore the reliability and sensitivity of the high-resolution melting analysis (HRMA) technique for the identification of the SF3B1 mutations, mutations in 92 patients with MDS were detected in this study. The sensitivity could reach 5%, obviously higher than the 25% of direct DNA sequencing. A low frequency (5.4%) of SF3B1 mutations were identified in patients with MDS, including three cases of K700E, one case of H662Q, and one case of K666M. Further, SF3B1 mutations were more frequently recurrent in the 33% of patients with MDS characterized with RS, whereas in other subtypes of MDS, only 2.3% of patients were detected with SF3B1 mutations (p=0.006). In conclusion, a rapid, reproducible, sensitive, and high-throughput HRMA assay has been established for the scanning of SF3B1 mutations.
authors: Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, People's Republic of China.
authors: Jing
authors: J
authors: Yang
authors: Jun
authors: J
authors: Qian
authors: Jiang
authors: J
authors: Lin
authors: Xiao-fei
authors: XF
authors: Yang
authors: Wei
authors: W
authors: Qian
authors: Qin
authors: Q
authors: Chen
authors: Dong-ming
authors: DM
authors: Yao
authors: Cui-zhu
authors: CZ
authors: Wang
authors: Xing-xing
authors: XX
authors: Chen
authors: Gao-fei
authors: GF
authors: Xiao
authors: Yu-Juan
authors: YJ
authors: Ma
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis / Q000295:instrumentation / Q000379:methods*; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics*; D000072260:RNA Splicing Factors; D015203:Reproducibility of Results; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics*; D012680:Sensitivity and Specificity; D013997:Time Factors; D044366:Transition Temperature; D055815:Young Adult
chemical_list: D017931:DNA Primers; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human