【摘要】：目的探究微衛(wèi)星不穩(wěn)定(MSI)的急性淋巴細(xì)胞白血病(ALL)中SETD1B和TTK基因微衛(wèi)星序列移碼突變的情況。方法采用熒光片段聚合酶鏈反應(yīng)(PCR)對(duì)ALL細(xì)胞株和臨床樣本行MSI檢測(cè)。采用基因測(cè)序和熒光片段PCR檢測(cè)SETD1B、TTK基因微衛(wèi)星序列的移碼突變。結(jié)果 ALL細(xì)胞株MSI陽(yáng)性率為80.0%(4/5);兒童ALL患者骨髓樣本MSI陽(yáng)性率為25.0%(3/12);成人ALL患者骨髓樣本MSI陽(yáng)性率為20.0%(2/10)。Molt4細(xì)胞株中SETD1B基因微衛(wèi)星序列存在移碼突變c.22del C,TTK基因微衛(wèi)星序列存在移碼突變c.2560del A;CCRF-CEM細(xì)胞株中SETD1B基因微衛(wèi)星序列存在移碼突變c.22del C;ALL患者骨髓樣本中SETD1B和TTK基因微衛(wèi)星序列均未檢測(cè)到上述移碼突變。結(jié)論 MSI誘導(dǎo)SETD1B和TTK基因微衛(wèi)星序列移碼突變可發(fā)生于ALL細(xì)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.
【作者單位】： 中南大學(xué)湘雅醫(yī)院血液科;
【分類號(hào)】：R733.7

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