{"title":"新生儿囊性纤维化筛查","authors":"Evans M Machogu, Clement L. Ren","doi":"10.1542/9781610021432-part05-ch68","DOIUrl":null,"url":null,"abstract":"Oklahoma newborn screening for cystic fibrosis begins with measuring the immunoreactive trypsinogen (IRT) level from the dried blood spot. If the IRT level is elevated, a DNA mutation test is performed on the dried blood spot to analyze for some of the most common mutations in the cystic fibrosis gene cystic fibrosis transmembrane conductance regulator (CFTR). As there are >1,200 known CF mutations, it is not feasible to test for each mutation. The following chart represents the mutations currently included in the Oklahoma newborn screen for cystic fibrosis:","PeriodicalId":376952,"journal":{"name":"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide","volume":"44 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":"{\"title\":\"Cystic Fibrosis Newborn Screening\",\"authors\":\"Evans M Machogu, Clement L. Ren\",\"doi\":\"10.1542/9781610021432-part05-ch68\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Oklahoma newborn screening for cystic fibrosis begins with measuring the immunoreactive trypsinogen (IRT) level from the dried blood spot. If the IRT level is elevated, a DNA mutation test is performed on the dried blood spot to analyze for some of the most common mutations in the cystic fibrosis gene cystic fibrosis transmembrane conductance regulator (CFTR). As there are >1,200 known CF mutations, it is not feasible to test for each mutation. The following chart represents the mutations currently included in the Oklahoma newborn screen for cystic fibrosis:\",\"PeriodicalId\":376952,\"journal\":{\"name\":\"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide\",\"volume\":\"44 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1542/9781610021432-part05-ch68\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1542/9781610021432-part05-ch68","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Oklahoma newborn screening for cystic fibrosis begins with measuring the immunoreactive trypsinogen (IRT) level from the dried blood spot. If the IRT level is elevated, a DNA mutation test is performed on the dried blood spot to analyze for some of the most common mutations in the cystic fibrosis gene cystic fibrosis transmembrane conductance regulator (CFTR). As there are >1,200 known CF mutations, it is not feasible to test for each mutation. The following chart represents the mutations currently included in the Oklahoma newborn screen for cystic fibrosis:
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