高分辨熔解曲线分析方法检测子宫肌瘤MED12基因突变  

High- resolution melting curve analysis for detection of MED12 gene mutation in uterine leiomyomas

作　　者：叶军[1] 王华[1] 陈亚宝[1] 钱华[1] 姜俊[2] 袁冬兰[1] 王君[1] 

机构地区：[1]江苏省泰州市人民医院临床医学研究所,225300 [2]泰州高等职业技术学院

出　　处：《中华生物医学工程杂志》2014年第5期385-388,共4页Chinese Journal of Biomedical Engineering

基　　金：江苏大学2012年度医学临床科技发展基金项目（JLY20120130）;泰州市社会发展项目（TS2013009）;江苏省卫生厅面上项目（H201456）

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MEDl2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（r=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。Objective 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.

关 键 词：DNA突变分析 基因表达调控 肿瘤 子宫肿瘤 高分辨熔解曲线分析 

分 类 号：R378.16[医药卫生—病原生物学]