应用高分辨熔解曲线技术检测经典型苯丙酮尿症患者PAH基因第7外显子基因突变  

Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis

作　　者：周永安[1] 高伟华[2] 杨建平[3] 张全斌[1] 张改秀[4] 刘建萍[3] 马云霞[1] 张晓刚[3] 郁梁[3] 

机构地区：[1]山西省太原市中心医院中心实验室,030009 [2]山西医科大学2009级临床检验诊断学专业研究生 [3]山西省妇幼保健院新生儿筛查中心 [4]山西省妇幼保健院内分泌科

出　　处：《中华医学遗传学杂志》2012年第6期683-685,共3页Chinese Journal of Medical Genetics

基　　金：基金项目：山西省科技攻关项目（20080311065）;山西省卫生厅科技攻关项目（200705）

摘　　要：目的建立操作简便、快速，使用成本低，结果准确的鉴定PAH基因第7外显子c．728G〉A突变热点的基因诊断方法。方法应用高分辨熔解曲线（high resolution melting，HRM）技术，对山西省临床确诊的88例经典型苯丙酮尿症患儿第7外显子c．728G〉A突变热点进行检测，并将检测结果进行测序验证。结果受检患儿PAH基因第7外显子c．728G〉A突变位点HRM技术检测结果和测序结果完全相符。结论高分辨熔解曲线技术操作简便、快速，使用成本低，结果准确，可作为PAH基因第7外显子热点突变的快速、灵敏检测方法。Objective To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene. Methods High-resolution melting （HRM） technology was used to detect a c. 728G〉A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing. Results The results detected by HRM are in good agreement with the results obtained by direct sequencing. Conclusion HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.

关 键 词：苯丙酮尿症 PAH基因 高分辨熔解曲线技术 突变热点 基因诊断 

分 类 号：R725.8[医药卫生—儿科]