Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease
文献类型：期刊论文
| 作者 | Li YL1; Zhang DF1,2; Zhang SW1,3; Zeng Y[*]4; Yao YG[*]1 |
| 刊名 | INTERNATIONAL JOURNAL OF HEMATOLOGY
 |
| 出版日期 | 2012 |
| 卷号 | 96期号:2页码:229-233 |
| 关键词 | DNMT3A gene AML Heterozygous mutation Hematological disease Chinese |
| 通讯作者 | yunlongli.km@gmail.com ; zengyun_fyy@sina.com.cn ; ygyaozh@gmail.com |
| 合作状况 | 其它 |
| 英文摘要 | 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. |
| 收录类别 | SCI |
| 资助信息 | 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. |
| 语种 | 英语 |
| WOS记录号 | WOS:000307764900012 |
| 公开日期 | 2013-09-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/7662]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China 2.Graduate School of the Chinese Academy of Sciences, Beijing, China 3.Department of Head and Neck, The Third Affiliated Hospital of Kunming Medical College (Tumor Hospital of Yunnan Province), Kunming, Yunnan, China 4.Department of Hematology, The First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan, China |
| 推荐引用方式 GB/T 7714 | Li YL,Zhang DF,Zhang SW,et al. Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease[J]. INTERNATIONAL JOURNAL OF HEMATOLOGY,2012,96(2):229-233. |
| APA | Li YL,Zhang DF,Zhang SW,Zeng Y[*],&Yao YG[*].(2012).Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease.INTERNATIONAL JOURNAL OF HEMATOLOGY,96(2),229-233. |
| MLA | Li YL,et al."Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease".INTERNATIONAL JOURNAL OF HEMATOLOGY 96.2(2012):229-233. |
入库方式： OAI收割
来源：昆明动物研究所
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