摘要目的 分析BLM基因在白血病骨髓细胞中的表达情况及其临床意义.方法 收集2011年1月至12月安徽省立医院血液科住院和门诊随访的125例白血病患者骨髓标本为研究对象.其中包括59例慢性粒细胞白血病(CML),66例急性白血病(AL).对照组为5例门诊非恶性血液病患者的骨髓标本,其中女性3例,男性2例,年龄在15岁至53岁.采用半定量逆转录-聚合酶链反应(RT-PCR)法检测了已通过细胞形态学和免疫分型检查骨髓细胞中BLM mRNA的表达情况,按患者年龄、性别、所患白血病类型、外周血白细胞计数情况、有无肝脾肿大、融合基因表达情况、染色体核型、是否初诊以及是否移植进行分组.回顾性分析BLM基因在各分组中的表达情况以及与以上各因素的相关性.采用x2检验、单因素方差分析、t检验以及Pearson相关性检验进行统计学分析.结果 BLM基因在各型白血病中均有表达.125例白血病患者骨髓标本中,BLM基因阳性表达71例,阴性表达54例,5例非恶性血液病患者的骨髓标本中均不表达.白血病患者骨髓细胞内BLM基因的表达在不同白细胞计数分组间以及融合基因分组间,差异有统计意义(x2值分别为14.730和22.399,P均＜0.05).经治疗后的白血病患者BLM基因的表达水平(0.1788±0.1091)低于初诊(0.3276±0.2016)白血病患者,差异有统计学意义(t=3.937,P＜0.05)；移植后的患者BLM基因表达水平(0.1271±0.1009)低于未经过移植(0.2902±0.2034)的患者,差异具有统计学意义(t=2.061,P＜0.05).Pearson相关性分析显示白血病骨髓细胞中BLM基因的表达与融合基因呈正相关(r=0.357,P＜0.01),并且与染色体核型呈正相关(r=0.279,P＜0.05).结论 BLM基因表达水平的测定可作为判断白血病患者病情严重程度和预后的指标,检测其水平可能为临床和疗效判断提供依据.

abstractsObjective To investigate the correlation between the expression level of BLM and its clinical significance in leukemia.Methods 125 bone marrow specimens of inpatients and outpatients with leukemia were collected in Anhui provincial hospital from January 2011 to December 2011.125 leukemia patients were diagnosed and classified into acute leukemia (AL,n =66) and chronic myelogenous leukemia (CML,n =59) by Morphologic and Immunologic criteria,5 non-tumor individuals were included as control group.The BLM mRNA expressions were by reverse transcription-polymerase chain reaction(RT-PCR).The specimens were devided into groups according to the age,gender,leukemia type,peripheral blood leukocyte counts,hepatomegalia and(or) splenomegaly,fusion gene,chromosome karyotype,whether first visit and transplantation.The expression of BLM gene in each group and the correlation with above factors were retrospectively analysed.The statistical methods such as chi-square test,single factor variance analysis,t test and Pearson correlation test were mainly used.Results BLM mRNA was detected in leukemia.In bone marrow cells,the BLM gene expression was positive in 71 patients and negative in 54 patients.But none of 5 non-tumor bone marrow cells expressed BLM gene.The difference of BLM expression between patients and controls was statistically significant in two groups,i.e.peripheral blood leukocyte counts and fusion gene (x2 =14.730,22.399 ; P ＜ 0.05),but there is no statistical significant differences in other groups.The expressions of BLM mRNA in leukemia patients who had been treated with chemotherapy were lower than those newly diagnosed (0.1788 ± 0.1091 vs 0.3276 ± 0.2016 ; P ＜ 0.05).Moreover,BLM mRNA level in post-bone marrow transplant patients was lower than those not treated (0.1271 ± 0.1009 vs 0.2902 ±0.2034 ; P ＜ 0.05).Pearson correlation analysis showed that higher BLM mRNA expression positively correlated with fusion gene (r =0.357,P ＜ 0.01) and chromosome abnormality (r =0.279,P ＜ 0.05).Conclusion The BLM mRNA expression level of measurement can be used as judgment for leukemia patients disease severity and the index of prognosis,testing the level may provide a basis for clinical and curative effect judgment.