{"title":"用时间分辨荧光法检测CFTR基因ΔF508突变","authors":"S Kirschstein , S Winter , D Turner , G Löber","doi":"10.1016/S0302-4598(99)00052-5","DOIUrl":null,"url":null,"abstract":"<div><p>A rapid recognition in the base sequence of nucleic acids is an important prerequisite toward the diagnosis of genetic diseases and their carrier states. We have developed a hybridisation method in which a fluorescently labeled oligonucleotide is used to detect point mutations in a target by a simple fluorescence lifetime analysis of the emission of the fluorescent label. We applied this method to detect the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a model system and with biologically derived PCR product and discuss the potential generality of this method.</p></div>","PeriodicalId":79804,"journal":{"name":"Bioelectrochemistry and bioenergetics (Lausanne, Switzerland)","volume":"48 2","pages":"Pages 415-421"},"PeriodicalIF":0.0000,"publicationDate":"1999-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0302-4598(99)00052-5","citationCount":"5","resultStr":"{\"title\":\"Detection of the ΔF508 mutation in the CFTR gene by means of time-resolved fluorescence methods\",\"authors\":\"S Kirschstein , S Winter , D Turner , G Löber\",\"doi\":\"10.1016/S0302-4598(99)00052-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>A rapid recognition in the base sequence of nucleic acids is an important prerequisite toward the diagnosis of genetic diseases and their carrier states. We have developed a hybridisation method in which a fluorescently labeled oligonucleotide is used to detect point mutations in a target by a simple fluorescence lifetime analysis of the emission of the fluorescent label. We applied this method to detect the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a model system and with biologically derived PCR product and discuss the potential generality of this method.</p></div>\",\"PeriodicalId\":79804,\"journal\":{\"name\":\"Bioelectrochemistry and bioenergetics (Lausanne, Switzerland)\",\"volume\":\"48 2\",\"pages\":\"Pages 415-421\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1999-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S0302-4598(99)00052-5\",\"citationCount\":\"5\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bioelectrochemistry and bioenergetics (Lausanne, Switzerland)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0302459899000525\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bioelectrochemistry and bioenergetics (Lausanne, Switzerland)","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0302459899000525","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Detection of the ΔF508 mutation in the CFTR gene by means of time-resolved fluorescence methods
A rapid recognition in the base sequence of nucleic acids is an important prerequisite toward the diagnosis of genetic diseases and their carrier states. We have developed a hybridisation method in which a fluorescently labeled oligonucleotide is used to detect point mutations in a target by a simple fluorescence lifetime analysis of the emission of the fluorescent label. We applied this method to detect the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a model system and with biologically derived PCR product and discuss the potential generality of this method.