Establishment of a diagnostic procedure and preliminary scanning for length mutations in cebpa/bzip domain in vietnamese acute myeloid leukemia patients

Trinh Le Phuong, Bui Huong Quynh, Do Thi Thanh Trung, Pham Bao Yen


Acute myeloid leukemia (AML) is a hematological disorder triggered by the development of abnormal myeloblasts from myeloid stem cells in bone marrow. There is strong clinical evidence to prove that AML is related to mutations in several genes, such as Nucleophosmin 1 (NPM1), FMS-like tyrosine kinase 3 (FLT3) and CCAAT/enhancer binding protein alpha (CEPBA). CEBPA mutations, contributing to approximately 10% of NK-AML cases, occur along the intron-free gene, but are highly concentrated on the N terminal, transactivation domain (TAD) and C terminal, bZIP regions. This study aimed to establish a standard, simple, and effective procedure to detect CEBPA/bZIP length mutations in the C terminus for regular use in the molecular laboratories of Vietnamese hospitals. Starting materials used were total DNA extracted from AML patients, which served as template for PCR with specific primers to amplify a fragment of the bZIP region. The PCR products were then analysed by a single-strand conformation polymorphism (SSCP) protocol for mutation detection. To facilitate the procedure establishment, a synthetic mutation in which a tri-nucleotide sequence was inserted was successfully generated and utilized in PCR-SSCP. Scanning of 156 Vietnamese AML patients using the set-up protocol revealed several mutants and the characteristics of the respective mutations were preliminarily analysed.


Acute myeloid leukemia (AML), CCAAT/enhancer binding protein alpha (CEBPA), mutation diagnosis, single-strand conformation polymorphism (PCR-SSCP)

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