title: Rapid and reliable detection of IDH1 R132 mutations in acute myeloid leukemia using high-resolution melting curve analysis.
abstract: OBJECTIVE
  The mutations of isocitrate dehydrogenase 1 (IDH1) gene have been identified in a proportion of hematologic malignancies including acute myeloid leukemia (AML). The aim of the present study was to explore the reliability of the high-resolution melting analysis (HRMA) for the identification of IDH1 R132 mutations in AML.
  
  
  METHODS
  We evaluated the sensitivity of HRMA in the detection of IDH1 R132 mutation and screened IDH1 mutations in 110 AML patients using HRMA. The results of HRMA were validated by direct DNA sequencing.
  
  
  RESULTS
  The reproducible sensitivity of HRMA was 5% for the detection of IDH1 R132 mutation, higher than 10% of direct DNA sequencing. Heterozygous IDH1 mutations were identified in 4 (3.6%) AML cases, which were R132H in 3 cases and R132S in 1 case confirmed by DNA sequencing.
  
  
  CONCLUSIONS
  The HRMA is a rapid, accurate, reliable, high-throughput method to screen IDH1 gene mutations.
authors.affiliation: Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, PR China.
authors.forename: Jiang
authors.initials: J
authors.lastname: Lin
authors.forename: Jun
authors.initials: J
authors.lastname: Qian
authors.forename: Dong-Ming
authors.initials: DM
authors.lastname: Yao
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Qin
authors.initials: Q
authors.lastname: Chen
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Chai
authors.forename: Gao-Fei
authors.initials: GF
authors.lastname: Xiao
authors.forename: Wen-rong
authors.initials: WR
authors.lastname: Xu
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000201:enzymology* / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009691:Nucleic Acid Denaturation / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human