白血病微卫星不稳定与靶基因移码突变的研究
发布时间：2018-11-12 18:50
【摘要】：目的探究微卫星不稳定(MSI)的急性淋巴细胞白血病(ALL)中SETD1B和TTK基因微卫星序列移码突变的情况。方法采用荧光片段聚合酶链反应(PCR)对ALL细胞株和临床样本行MSI检测。采用基因测序和荧光片段PCR检测SETD1B、TTK基因微卫星序列的移码突变。结果 ALL细胞株MSI阳性率为80.0%(4/5);儿童ALL患者骨髓样本MSI阳性率为25.0%(3/12);成人ALL患者骨髓样本MSI阳性率为20.0%(2/10)。Molt4细胞株中SETD1B基因微卫星序列存在移码突变c.22del C,TTK基因微卫星序列存在移码突变c.2560del A;CCRF-CEM细胞株中SETD1B基因微卫星序列存在移码突变c.22del C;ALL患者骨髓样本中SETD1B和TTK基因微卫星序列均未检测到上述移码突变。结论 MSI诱导SETD1B和TTK基因微卫星序列移码突变可发生于ALL细胞株。
[Abstract]:Objective to investigate the mutation of SETD1B and TTK gene in microsatellite unstable (MSI) acute lymphoblastic leukemia (ALL). Methods ALL cell lines and clinical samples were detected by MSI using fluorescent fragment polymerase chain reaction (PCR). The microsatellite sequence of SETD1B,TTK gene was detected by gene sequencing and fluorescence fragment PCR. Results the positive rate of MSI was 80.0% (4 / 5) in ALL cell line and 25.0% (3 / 12) in bone marrow samples of children with ALL. The positive rate of MSI in bone marrow samples of adult ALL patients was 20.0% (2 / 10). There was a frameshift mutation in the microsatellite sequence of SETD1B gene in Molt4 cell line, and there was a frameshift mutation c.2560del A in the microsatellite sequence of c.22del CnTTK gene. There was a frameshift mutation in the microsatellite sequence of SETD1B gene in CCRF-CEM cell line. Neither the SETD1B nor TTK gene microsatellite sequence was detected in the bone marrow samples of c.22del all patients. Conclusion MSI induces SETD1B and TTK microsatellite sequence shift mutations to occur in ALL cell lines.
【作者单位】： 中南大学湘雅医院血液科;
【分类号】：R733.7
本文编号：2327914
[Abstract]:Objective to investigate the mutation of SETD1B and TTK gene in microsatellite unstable (MSI) acute lymphoblastic leukemia (ALL). Methods ALL cell lines and clinical samples were detected by MSI using fluorescent fragment polymerase chain reaction (PCR). The microsatellite sequence of SETD1B,TTK gene was detected by gene sequencing and fluorescence fragment PCR. Results the positive rate of MSI was 80.0% (4 / 5) in ALL cell line and 25.0% (3 / 12) in bone marrow samples of children with ALL. The positive rate of MSI in bone marrow samples of adult ALL patients was 20.0% (2 / 10). There was a frameshift mutation in the microsatellite sequence of SETD1B gene in Molt4 cell line, and there was a frameshift mutation c.2560del A in the microsatellite sequence of c.22del CnTTK gene. There was a frameshift mutation in the microsatellite sequence of SETD1B gene in CCRF-CEM cell line. Neither the SETD1B nor TTK gene microsatellite sequence was detected in the bone marrow samples of c.22del all patients. Conclusion MSI induces SETD1B and TTK microsatellite sequence shift mutations to occur in ALL cell lines.
【作者单位】： 中南大学湘雅医院血液科;
【分类号】：R733.7
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