骨髓增生异常综合征患者P15^(INK4B) FHIT基因甲基化的研究  

Methylation of P15^(INK4B) and FHIT genes in patients with myelodysplastic syndrome

作　　者：叶芳[1,2] 贾宁[3] 李国霞[3] 何玉梅[3] 王丽娜[3] 马瑞霞[3] 王宏伟[3] 

机构地区：[1]清华大学附属北京市垂杨柳医院血液科,100022 [2]山西医科大学第二医院 [3]山西医科大学第二医院血液科

出　　处：《中国药物与临床》2016年第4期473-475,共3页Chinese Remedies & Clinics

基　　金：山西省归国留学基金([2009]9号106);山西省科技攻关项目(20150313012-5);山西省国际合作项目(2012081044-1);山西省人事厅回国留学人员科技活动择优资助项目(晋财社[2011]172号)

摘　　要：目的探讨P15^(INK4B)基因和FHIT基因甲基化异常与骨髓增生异常综合征(MDS)发病机制的关系。方法采用甲基化特异聚合酶链反应(MSP)技术和变性高效液相色谱(DHPLC)检测分析50例MDS患者,其中包括低危组3例、中危-1组10例、中危-2组27例和高危组10例骨髓细胞P15^(INK4B)基因与FHIT基因的甲基化情况。结果随着疾病的进展,即由低危组MDS向高危组MDS进展,P15^(INK4B)基因和FHIT基因甲基化阳性率逐渐增高,且P15^(INK4B)基因和FHIT基因甲基化在3组间的差异有统计学意义(P=0.022,P=0.026),其中低危组/中危-1组P15^(INK4B)基因和FHIT基因甲基化阳性率低于高危组,且2组间的差异有统计学意义(P<0.05),而低危组/中危-1组与中危-2组、中危-2组与高危组间差异无统计学意义;2个基因的甲基化没有关联性。结论 P15^(INK4B)基因和FHIT基因甲基化可能参与MDS的发病机制,并与疾病的恶化程度有关。Objective To investigate the relationship between abnormal methylation of P15^INK4Band FHIT genes and pathogenesis of myelodysplastic syndrome（MDS）. Methods A total of 50 MDS patients, including 3 of low, 10 of intermediate-1, 27 of intermediate-2 and 10 of high-risk groups, were examined for methylation of bone marrow cell P15^INK4Band FHIT genes using methylation-specific PCR（MSP） techniques and denaturing high-performance liquid chromatography（DHPLC）. Results Along with disease progression from low-risk to high-risk MDS, the positive rates of P15^INK4Band FHIT methylation gradually increased, with statistically significant differences among the three groups（P=0.022, P=0.026, respectively）. The positive rates of P15^INK4Band FHIT gene were lower in low/intermediate-1 risk groups than in high-risk group（P〈0.05）, but did not differ significantly between low/intermediate-1and intermediate-2risk groups, nor between intermediate-2 and high-risk groups. There was no correlation in methylation between these two genes. Conclusion Methylation of P15^INK4B and FHIT genes may be involved in pathogenesis of MDS, and correlated with deterioration of MDS.

关 键 词：骨髓增生异常综合征 聚合酶链反应 色谱法 P15INK4B基因 FHIT基因 

分 类 号：R551.3[医药卫生—血液循环系统疾病]