中文摘要：

发展了一种基于连接酶介导的诱导荧光共振能量转移技术用于基因点突变的准确快速检测方法．针对特定突变位点设计的核酸探针，当与模板之间完全匹配时，被连接形成一条长的双链，双链特异性嵌入荧光染料SYBRGreenI插入新生的双链区域，诱导荧光共振能量转移发生．相反，核酸探针与模板之间不匹配，则不能诱导荧光共振能量转移的出现．利用该方法，成功实现了卢地中海贫血遗传病两种普遍存在的点突变Ivs-2．654（C→T）和CD17（A→T）的基因型检测．

英文摘要：

An approach has been developed to genotype point mutations using ligase-mediated induced fluorescence resonance energy transfer （FRET）. When two ligated probes are complementary to template, ligase covalently joins the leak of two probes to form a long duplex. Duplex inseting dye insects into duplex strands to form induced FRET. When there is a mismatch among probes and template, FRET can not be induced. Using this method, the homozygotes and heterozygotes were scored accurately and conveniently. This method has been validated with the genotyping of two common point mutations Ivs-2-654 （C→T） and CD17 （A→） and of β-globin gene in thdassemia disease.