Abstract
The DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A) gene is actively involved in epigenetic regulation. Mutations in this gene affect disease progression and response to therapy, particularly in hematological disease. Recent studies have demonstrated that DNMT3A gene mutations affecting codon R882 are actively involved in acute myelogenous leukemia (AML), and cause abnormal alteration of DNA methylation and poor survival. In this study, we screened DNMT3A mutations in a total of 389 Chinese patients with hematological disease by sequencing the coding region of exon 23 covering residue R882. Three heterozygous mutations (p.R882S, p.R882C and p.R882H) were identified in three of 61 AML patients, whereas none of patients with other hematological disorders harbored any mutation. Our results support the notion that DNMT3A R882 was a frequent mutation in AML patients but rare in other types of hematological disorder.
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Acknowledgments
We thank patients for participating in this study. This study was supported by the National Natural Science Foundation of China (30925021 and 81060046), Yunnan Province (2009CI119 and 2010CD161), and the Chinese Academy of Sciences.
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Li, Y., Zhang, DF., Zhang, SW. et al. Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease. Int J Hematol 96, 229–233 (2012). https://doi.org/10.1007/s12185-012-1104-z
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DOI: https://doi.org/10.1007/s12185-012-1104-z