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Background: The mutations of CCAAT/enhancer binding protein-alpha (CEBPA) gene are evaluated as favorable prognostic tools for acute myeloid leukemia (AML) patients. The gold standard method for detection of CEBPA gene mutations is direct sequencing. This method has some disadvantages, and CEBPA mutations can occur across the whole gene, and there should be a screening test before designating the type of mutation by direct sequencing.
Objective: This study was to evaluate the ability of denaturing high-performance liquid chromatography (DHPLC) for screening CEBPA mutations.
Method: The coding region of CEBPA gene in 114 AML patients and 40 normal controls were screened by DHPLC and confirmed by direct sequencing.
Results: Our results demonstrated that DHPLC is a useful screening test to detect CEBPA gene mutations in AML patients. Fifteen types of CEBPA gene mutations including insertion, duplication, deletion, and substitution were also detected by DHPLC.
Conclusion: A combination of DHPLC and direct sequencing is an appropriate approach for detecting CEBPA mutations.
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