摘要：
目的:探讨p15、DAPK、SOCS1和FHIT4基因甲基化联合检测在骨髓增生异常综合征(MDS)早期诊断与预后评估中的价值.方法:应用甲基化特异性PCR(MSP)对67例MDS患者骨髓进行上述4种基因甲基化检测,分析4个基因联检在MDS患者早期诊断及预后评估中的价值.结果:67例MDS患者p15、DAPK、SOCS1和FHIT4个基因甲基化率分别为37.3％、35.8％、47.8％和52.2％,较对照组显著增高(P＜0.05),4个基因单检诊断MDS的阳性符合率分别为37.3％、35.8％、47.8％和52.2％,而4个基因联合检测诊断MDS的阳性符合率为82.1％,较单一基因检查阳性符合率明显增高(P＜0.001);相对高危组中≥2个基因甲基化共表达明显高于相对低危组(P＜0.05).MDS患者中位生存时间18(13.3,22.7)个月,相对低危组患者中位生存时间明显长于相对高危组[27(20.3,33.7) vs 9(5.9,12.1)个月](P＜0.05).在不同危险度患者中,随着表达基因数的增多,患者的生存时间呈明显缩短趋势(P＜0.05).结论:p15、DAPK、SOCS1和FHIT4种基因联合检测有利于提高MDS患者的早期诊断和预后判断.%Objective:To investigate the value of p15,DAPK,SOCS1 and FHIT genes combined detection in the early diagnosis and prognosis evaluation of patients with myelodysplastic syndrome (MDS).Methods:The methylationspecific PCR (MSP) was used to detect the methylation of the above-mentioned 4 genes in 67 patients with MDS.The value of 4 gene combined detection in the early diagnosis and prognosis evaluation of patients with MDS was compared and anazlyzed.Results:The methylation rates of p15,DAPK,SOCS1 and FHIT genes in 67 patients with MDS were 37.3％,35.8％,47.8％ and 52.2％,respectively,which were significantly higher than those in control group (P ＜ 0.05).The accordance rates of p15,DAPK,SOCS1 and FHIT single detection for diagnosis of MDS were 37.3％,35.8％,47.8％ and 52.2％,respectively,meanswhile the accordance rate of above-mentioned 4 gene combined detection for diagnosis of MDS was 82.1％,which was significantly higher than that of single gene detection(P ＜0.001).The methylation of ≥2 genes in relatively high risk group was significantly higher than that in relatively low risk group (P ＜ 0.05).The median survival time of MDS patients was 18 (13.3,22.7) months;the median survival time in relatively low risk group was significantly longer than that in relatively high risk group [27(20.3,33.7) months vs 9(5.9,12.1) months] (P ＜ 0.05).The survival time of MDS patients with different risks displayed the trend of shorting feature along with increasing of methylated genes (P ＜ 0.05).Conclusion:The combined detection of above menthioned 4 genes can improve the accuracy of early diagnosis and prognosis evaluation for MDS patients.
