摘要
目的建立一种简单,快速,高效的检测唇腭裂转化生长基因α(TGFA)基因突变检测方法。方法用高分辨率熔解曲线(HRM)方法检测18例非综合征唇腭裂患者TGFA基因的Taq Ⅰ位点突变情况,并与测序结果进行比较。结果HRM检测1例唇腭裂患者中3例患者TGFA基因TaqI位点杂合性缺失,其他15例正常。测序结果与HRM结果完全一致。结论HRM是一种简单、快速、经济的检测基因突变的新方法,能用于大规模临床筛查。
Objective To establish a simple,fast,efficient method to detect test gene mutation for cleft palate transforming growth factor alpha（TGFA）gene.Methods TGFA Taq I mutation of eighteen non-syndrome cleft palate patients are detected with high resolution melting（HRM）method.The results are compared with sequencing.Results A heterozygosis missing of TGFA Taq I in three of the eighteen cleft palate patients is identified with the HRM method which is in accord with sequencing results.Conclusion HRM is a simple,fast,cost-efficiency method to detect gene mutations,and is suitable to large sample clinical screening.
出处
《中国医科大学学报》
CAS
CSCD
北大核心
2010年第4期281-282,285,共3页
Journal of China Medical University
基金
辽宁省科技攻关项目(2009225007-7)
关键词
非综合征唇腭裂
高分辨率熔解曲线
转化生长基因α
non-syndrome cleft palate
high resolution melting
transforming growth factor alpha
