IR@PKUHSC  > 北京大学第一临床医学院  > 血液内科
学科主题临床医学
Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia
Yang, Liyun2,3; Liu, Hongxing4; Zhao, Jun1; Da, Wanming2; Zheng, Jingchen2; Wang, Lixiang2; Li, Gong2; Zhu, Ping1
关键词Perforin Gene Mutations Snp Acute Lymphoblastic Leukemia
刊名LEUKEMIA RESEARCH
2011-02-01
DOI10.1016/j.leukres.2010.06.016
35期:2页:196-199
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Oncology ; Hematology
资助者Ministry of Science &amp ; Technology of China ; National 863 High-Tech Research and Development Program of China ; Ministry of Science &amp ; Technology of China ; National 863 High-Tech Research and Development Program of China
研究领域[WOS]Oncology ; Hematology
关键词[WOS]MACROPHAGE ACTIVATION SYNDROME ; JUVENILE IDIOPATHIC ARTHRITIS ; AMINO-ACID CHANGE ; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS ; LYMPHOMA ; A91V ; CYTOTOXICITY ; ONSET ; CANCER
英文摘要

To address whether mutations and single nucleotide polymorphisms (SNPs) in perforin gene (PRF1) are correlated with acute lymphoblastic leukemia (ALL) in Chinese, we screened mutations in codon region of PRF1 in 111 ALL patients, and correlated the results with patients′ immunophenotype, karyotype and fusion genes. Four novel monoallelic missense and two novel monoallelic synonymous mutations (G198R, R225Q, D486G, R509K, S388S and Q540Q) were identified in 9 B-ALL, of whom 7 cases carried BCR-ABL gene, one carried MLL-AF4 fusion gene, and one lost two chromosomes. Our results suggest that mutations in PRF1 may play a role in the pathogenesis of B-ALL. (C) 2010 Elsevier Ltd. All rights reserved.

语种英语
所属项目编号2006DFB31430 ; 2008AA02503
资助者Ministry of Science &amp ; Technology of China ; National 863 High-Tech Research and Development Program of China ; Ministry of Science &amp ; Technology of China ; National 863 High-Tech Research and Development Program of China
WOS记录号WOS:000286460200011
Citation statistics
Cited Times:2[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53795
Collection北京大学第一临床医学院_血液内科
作者单位1.Peking Univ, Hosp 1, Dept Hematol, Beijing 100034, Peoples R China
2.Beijing 301 Hosp, Dept Hematol, Beijing, Peoples R China
3.Gen Hosp Armed Police, Dept Hematol, Beijing, Peoples R China
4.Beijing Daopei Hosp, Hematol Res Lab, Beijing, Peoples R China
Recommended Citation
GB/T 7714
Yang, Liyun,Liu, Hongxing,Zhao, Jun,et al. Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia[J]. LEUKEMIA RESEARCH,2011,35(2):196-199.
APA Yang, Liyun.,Liu, Hongxing.,Zhao, Jun.,Da, Wanming.,Zheng, Jingchen.,...&Zhu, Ping.(2011).Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia.LEUKEMIA RESEARCH,35(2),196-199.
MLA Yang, Liyun,et al."Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia".LEUKEMIA RESEARCH 35.2(2011):196-199.
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