摘要目的 建立高分辨熔解曲线分析(HRMA)检测子宫平滑肌瘤MED12基因突变.方法 针对MED12基因突变位点设计PCR扩增引物,对60例子宫肌瘤标本进行PCR扩增.用HRMA技术对PCR产物进行突变分析,并通过DNA测序技术对HRMA结果进行验证.结果 60例子宫平滑肌瘤样本中,HRMA检出MED12基因突变率为53.3％(33/60),测序法检出突变率为51.7％(31/60),两者比较差异无统计学意义(x2=0.0335,P=0.885).两者符合率为96.7％ (58/60).结论 本研究成功建立HRMA技术检测MED12基因突变,可用于临床子宫肌瘤标本的检测.

abstractsObjective To establish a high-resolution melting curve analysis (HRMA) for detection of MED12 gene mutation in uterine leiomyomas.Methods PCR amplification primers were designed for the loci of MED12 gene mutations.Sixty uterine leiomyoma samples were processed for PCR amplification,and the mutation in PCR products were analyzed by HRMA.The results of the HRMA were verified by DNA sequencing techniques.Results In the 60 uterine leiomyoma samples,the rate of MED12 gene mutation detected by HRMA was 53.3％ (33/60) compared with 51.7％ (31/60) detected by the DNA sequencing,with no statistical difference between the two methods (x2=0.0335,P=0.885).The coincidence rate was 96.7％ (58/60).Conclusion HRMA for detection of MED12 gene mutation is successfully established,which can be used for the detection of clinical specimens of uterine leiomyomas.