摘要目的：探讨端粒保护蛋白1（POT1）表达与急性髓系白血病（AML）发病机制的关系。方法选择62例初发AML患者（病例组）和10例缺铁性贫血患者（对照组）为研究对象，应用实时荧光定量聚合酶链反应（PCR）方法检测POT1 mRNA的表达情况，应用Western blot检测POT1蛋白的表达情况。结果62例初发AML患者中，M12例，M214例，M312例，M414例，M517例，M62例，未分型AML 1例。根据危险度分层标准分为高危组（24例）、中危组（22例）和低危组（16例）。初发AML患者POT1 mRNA和蛋白表达水平较对照组明显降低（P＜0.05）；M2、M4及M5三组患者POT1 mRNA和蛋白表达量明显低于对照组（P＜0.05）；高危组、中危组、低危组三组患者POT1 mRNA和蛋白表达量也明显低于对照组（P＜0.05）；M3组患者的POT1 mRNA表达水平较对照组降低（P＜0.05），但蛋白表达差异无统计学意义（P＞0.05）。 POT1蛋白在细胞质和细胞核中均有表达，但其表达量差异无统计学意义（P＞0.05）。结论 POT1可能参与AML的发病。POT1可能从细胞质和细胞核参与端粒长度的调节，进而保护染色体的稳定性。

abstractsObjective To analyze the relationship between the expression of protection of telomeres 1 (POT1) and the pathogenesis of acute myeloid leukemia (AML). Methods 62 patients with de novo AML (case group) and 10 patients with iron deficiency anemia (control group) were enrolled in this study. The quantitative real-time polymerase chain reaction (PCR) and Western blot were used to detect the expression of POT1 in AML patients. Results There were 62 de novo AML patients, including 2 cases M1, 14 cases M2, 12 cases M3, 14 cases M4, 17 cases M5, 2 cases M6 and 1 case AML without classification. According to the risk stratification, high risk group (24 cases), medium risk group (22 cases) and low risk group (16 cases) were divided. Compared with that in the controls, POT1 expression levels in patients with AML were significantly decreased both in mRNA and protein level (P< 0.05). The relative expression levels of POT1 mRNA and protein in patients with M2, M4 and M5 were significantly lower than those in the controls (P< 0.05). The expression levels of POT1 in high risk group, medium risk group and low risk group were significantly decreased than those in the controls (P<0.05). Compared with that in the controls, The relative POT1 mRNA expression was significantly decreased in M3 patients (P< 0.05), but not in protein level. POT1 protein expression was showed both in the cytoplasm and nucleus. There was no significant difference of the expression of POT1 protein between cytoplasm and nucleus (P> 0.05). Conclusions POT1 may be involved in the pathogenesis of AML. POT1 protein expresses in both cytoplasm and nucleus, and the regulatory mechanism may be related to the telomere length.