急性白血病线粒体D-loop区微卫星D310和D16184不稳定性研究

目的 探讨线粒体D-loop区微卫星(MSI)D310和D16184在急性白血病(AL)中的不稳定性.方法 采用反转录聚合酶链-单链构象多态性分析(PCR-SSCP)法筛选100例初诊未治及治疗的AL患者D-loop区HV-1和HV-2.对迁移异常者进行测序,结果与剑桥标准序列(rCRS)和mtDB数据库进行比对,分析其突变情况.比较各组组中D310和D16184的突变率.结果 100例AL患者中,D310总突变49例(49.0%),未治疗组40例中突变13例(32.5%),治疗组60例中突变36例(60.0%),治疗组高于未治疗组(P＜0.05);D16184总突变32例(32.0%),未治疗组突变8例(20.0%),治疗组为24例(40.0%),治疗组高于未治疗组(P＜0.05).结论 D310和D16184在AL中存在较高的突变率和多种突变类型,具有较强的不稳定性;化疗可能增强微卫星的不稳定性.

Microsatellite instability of D310 and D16184 located in mitochondrial D-loop region in acute leukemia

Objective To study the microsatellite instability (MSD) of D310 and D16184 located in mitochondrial D-loop region in acute leukemia (AL). Methods The HV-1 and HV-2 regions in D-loop region of 100 persons with the untreated and treated acute leukemia was amplificated and screened by PCR-SSCP,then the abnormal samples was amplificated and sequenced directly and compared with revised Cambridge reference sequence (rCRS) and mtDB. The mutation rates of D310 and D16184 was measured by SPSS11.5 statistics software, x2-test. Results The total mutation rate of D310 was found in 49.0 % (49/100) of our patients. Its mutation rates in untreated group and treated group were 32.5 % (13/40) and 60.0 % (36/60)respectively. The mutation rate of treated group is higher than that in untreated group (P ＜ 0.05). The total mutation rate of D16184 was found in 32.0 % (32/100) of our patients. Its mutation rates in untreated group and treated group were 20.0 % (8/40) and 40.0 % (24/60) respectively. The mutation rate of treated group is higher than that in untreated group (P ＜ 0.05). Conclusion There was a high mutation rate with various types of mutations of microsatellite D310 and D16184 located in mitochondrial D-loop region in AL, which led to a doughty MSI. Chemotherapy could cause a more doughty MSI.