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目的研究急性髓性白血病(AML)患者中N-ras基因突变的检出率及其临床意义。方法采用聚合酶链式反应(PCR)及序列分析方法检测117例初治AML患者N-ras基因第12、13和61位密码子的突变情况。结果在117例AML患者中,发现N-ras基因突变9例,包括50例FAB分型M2中1例,35例M4中5例,16例M5中2例及6例M6中1例,而在2例M0、2例M1及6例M3中未发现N-ras基因突变,总检出率为7.7%。共检出3例第12密码子GGT→GAT突变,1例第13密码子GGT→GAT突变和5例第61密码子突变(包括3例CAA→CGA突变,1例CAA→AGA突变,1例CAA→AAA突变)。N-ras突变在正常核型中的检出率(4/30,13.3%)高于在异常核型中的检出率(1/19,5.3%),但差异无统计学意义(P>0.05)。结论在AML患者中可以检测到N-ras基因突变,该突变可发生在N-ras基因的第61、12和13密码子,可能在AML发病机制中发挥一定作用。
Objective To investigate the detection rate of N-ras gene mutation in patients with acute myeloid leukemia (AML) and its clinical significance. Methods The mutations of codons 12, 13 and 61 of N-ras gene in 117 newly diagnosed AML patients were detected by polymerase chain reaction (PCR) and sequence analysis. Results In 117 AML patients, 9 cases of N-ras gene mutation were found, including 50 cases of FAB type M2, 5 cases of 35 cases of M4, 2 cases of 16 cases of M5 and 1 case of 6 cases of M6 N-ras gene mutation was not found in 2 cases of M0, 2 cases of M1 and 6 cases of M3, the total detection rate was 7.7%. Three cases of GGT → GAT mutation at codon 12, one GGT → GAT mutation at codon 13 and five mutations at codon 61 (including 3 CAA → CGA mutations, 1 CAA → AGA mutation, 1 patient CAA → AAA mutation). The detection rate of N-ras mutation in normal karyotype (4/30, 13.3%) was higher than that in abnormal karyotype (1 / 19,5.3%), but the difference was not statistically significant (P> 0.05). Conclusion The N-ras gene mutation can be detected in AML patients. The mutation may occur at codons 61, 12 and 13 of N-ras gene and may play a role in the pathogenesis of AML.