title: Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease.
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.
authors: Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China. yunlongli.km@gmail.com
authors: Yunlong
authors: Y
authors: Li
authors: Deng-Feng
authors: DF
authors: Zhang
authors: Shi-Wen
authors: SW
authors: Zhang
authors: Yun
authors: Y
authors: Zeng
authors: Yong-Gang
authors: YG
authors: Yao
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D003062:Codon; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D000090205:DNA Methyltransferase 3A; D005260:Female; D006402:Hematologic Diseases / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D003062:Codon; C000717967:DNMT3A protein, human; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A