Detection of CCAAT/enhancer binding protein alpha gene mutations in acute myeloid leukemia / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the relationship between CCAAT/enhancer binding protein alpha (C/EBPalpha) gene mutations and the development of acute myeloid leukemia (AML).</p><p><b>METHODS</b>The whole coding region of C/EBPalpha gene were screened in 48 cases of AML and 11 normal subjects by PCR-single strand conformation polymorphism (PCR-SSCP) and sequencing.</p><p><b>RESULTS</b>C/EBPalpha mutations were detected in 5 of 48 AML patients. Four duplications and 1 deletion were confirmed by DNA sequencing. All of those are newly identified mutations.</p><p><b>CONCLUSIONS</b>Different mutation types of C/EBPalpha gene exist in a small number of patients with AML and might be related to the pathogenesis of some leukemias.</p>