中国现代医学杂志2017，Vol.27Issue(12)：40-45,6.DOI:10.3969/j.issn.1005-8982.2017.12.008
白血病微卫星不稳定与靶基因移码突变的研究
Microsatellite instability and target gene frameshift mutations in leukemia
母光福 1李文锦 1李璨 1陈方平1
作者信息
- 1. 中南大学湘雅医院 血液科,湖南 长沙 410008
- 折叠
摘要
Abstract
Objective To investigate frameshift mutations of microsatellite sequence in SETD1B and TTK genes in acute lymphoblastic leukemia (ALL) with microsatellite instability (MSI). Methods Fluorescent frag-ment PCR was used for defining the microsatellite status of ALL cells both in cell lines and bone marrow samples. Sanger sequencing and fluorescent fragment PCR were used for the detection of frameshift mutations of microsatellite sequences in SETD1B and TTK genes in ALL cells with MSI both in cell lines and bone marrow samples. Results The incidence of MSI in the ALL cell line was 80.0% (4/5). The incidence of MSI in the child ALL cells was 25.0% (3/12). The incidence of MSI in the adult ALL was 20.0% (2/10). Frameshift mutations of c.22delC in SETD1B gene and c.2560delA in TTK gene were detected in Molt4 cell line. Frameshift mutation of c.22delC in SETD1B gene was detected in CCRF-CEM cell line. None of the above frameshift mutations was detected in the ALL bone marrow samples. Conclusions MSI induced SETD1B and TTK gene frameshift mutations occur in the ALL cell lines.关键词
微卫星不稳定/白血病/移码突变Key words
microsatellite instability/leukemia/frameshift mutation分类
医药卫生引用本文复制引用
母光福,李文锦,李璨,陈方平..白血病微卫星不稳定与靶基因移码突变的研究[J].中国现代医学杂志,2017,27(12):40-45,6.
