高分辨率熔解分析检测急性髓系白血病SRSF2基因突变  

Scanning the SRSF2 gene mutations in acute myeloid leukemia by using high-resolution melting analysis

作　　者：姚冬明[1] 杨静[2] 钱震[2] 杨磊[2] 肖高飞 林江 郭竑 钱军[2] 

机构地区：[1]江苏大学附属人民医院检验科,江苏省镇江市212002 [2]江苏大学附属人民医院血液科,江苏省镇江市212002 [3]江苏省镇江市实验血液学重点实验室

出　　处：《实用医学杂志》2016年第7期1169-1172,共4页The Journal of Practical Medicine

基　　金：国家自然基金(编号:81270630;81172592);江苏省科技厅临床医学科技专项课题(编号:BL2012056);江苏省"333工程"科研项目资助计划(编号:BRA2013136);镇江市医学重点人才;镇江市社会发展项目(编号:SH2014044;SH2014086)

摘　　要：目的:应用高分辨率熔解分析(high-resolution melting curve analysis,HRMA)检测急性髓系白血病(AML)患者丝氨酸丰富剪接因子2(SRSF2)基因突变。方法:针对SRSF2基因热点突变位点P95,建立PCR-HRMA方法对140例AML患者骨髓标本进行突变检测及DNA测序验证。结果 :HRMA分析发现140例初诊AML患者中7例(5%)检出SRSF2突变,经测序结果验证为1例P95R杂合子突变、2例P95L杂合子突变和4例P95H杂合子突变;HRMA技术检测SRSF2基因突变的灵敏度为10%;SRSF2基因突变组与非突变组在性别、年龄及血象之间均无显著性差异(P>0.05);AML患者中突变组的总体生存时间(OS)明显短于非突变组(P=0.016)。结论:HRMA分析是一种简便、快速、特异和高通量的SRSF2基因突变筛查技术,SRSF2突变的AML患者预后不良。Objective To study the SRSF2 mutations in acute myeloid leukemia（AML） patients by using high-resolution melting analysis（HRMA）. Methods PCR-HRMA analysis was performed to screen SRSF2 mutations in 140 cases with AML, and the direct DNA sequencing was used to confirm the HRMA results.Results Five percent（7 / 140） of AML patients were found with heterozygous SRSF2 mutations, including one case of P95 R mutation, two case of P95 L mutation, and four cases of P95 H mutation, the above mutations were confirmed by direct DNA sequencing. The maximal sensitivity of HRMA in detecting SRSF2 mutation was close to 10%. There were no difference in gender, age and blood parameters among cases with or without SRSF2mutations（P〉 0.05）. The overall survival（OS） of patients with SRSF2 mutations was inferior to those without SRSF2 mutations in AML patients（P = 0.016）. Conclusions HRMA analysis was a convenient, rapid, specific,high-throughput technique for scanning of SRSF2 gene mutations in AML patients. SRSF2 mutation may predict the adverse prognosis in AML patients.

关 键 词：急性髓系白血病 高分辨率熔解分析 SRSF2突变 预后 

分 类 号：R733.71[医药卫生—肿瘤]