MALDI-TOF-MS检测人群中骨形成蛋白4基因编码区突变方法的建立  

Genotyping of bone morphogenetic protein 4 gene mutation in coding region by matrix assisted laser desorption ionisation-time of flight mass spectrometry

作　　者：许铭炎[1,2] 邓小玲[3] 陈锡和[2] 刘庭英[1] 陈庆珊[1] 姚小武[2] 唐世杰[1] 

机构地区：[1]汕头大学医学院第二附属医院唇腭裂治疗中心,广东汕头515041 [2]汕头大学医学院第二附属医院口腔科,广东汕头515041 [3]汕头大学医学院细胞生物与遗传学教研室,广东汕头515041

出　　处：《癌变．畸变．突变》2011年第4期302-305,共4页Carcinogenesis,Teratogenesis & Mutagenesis

基　　金："重生行动--全国贫困家庭唇腭裂儿童手术康复计划"项目(LC0405)

摘　　要：目的:应用基质辅助激光解吸电离-飞行时间质谱(MALDI-TOF-MS)技术建立检测人群中骨形成蛋白4(BMP4)基因编码区突变的平台。方法:采用PCR扩增BMP4基因,产物纯化后利用MALDI-TOF-MS技术对广东籍100例非综合征型唇腭裂患儿及91例健康对照者外周血进行BMP4基因突变的检测并进行测序验证。结果:采用MALDI-TOF-MS平台检测的191份样本均未发现BMP4基因编码区存在T102A、R162Q及R198X突变,与测序结果一致。结论:成功建立基于MALDI-TOF-MS检测BMP4基因编码区突变的平台,该方法具有高通量、快速、准确的特点。OBJECTIVE：To develop a method for detecting the mutations of BMP4 gene by matrix assisted laser desorption ionisation-time of flight mass spectrometry method（MALDI-TOF-MS）.METHODS：BMP4 gene fragments were amplified by PCR using DNA extracted from blood samples of 100 non-syndromic cleft lip with or without cleft palate patients and 91 healthy unrelated individuals in Guangdong province.The mutations of BMP4 gene were analysed by MALDI-TOF-MS and identified by sequencing.RESULTS：The method for fast and high throughput genotyping BMP4 gene has been set up.The mutations of R162Q,R198X and T102A in BMP4 coding region were not found in 191 samples in our study.CONCLUSION：MALDI-TOF-MS is a fast,high throughput and accurate method for BMP4 gene mutation detection.

关 键 词：基质辅助激光解吸电离-飞行时间质谱 BMP4基因 突变 

分 类 号：Q786[生物学—分子生物学]