{"title":"导致囊性纤维化的突变与CFTR基因6a内含子四核苷酸重复序列不同等位基因连锁的鉴定","authors":"Potapova O.Y., Voronina O.V., Gaitskhoki V.S., Bogacheva E.V., Uembitskaya T.E., Kuprina E.A., Kapranov N.I., Berlin Y.A., Schwartz E.I.","doi":"10.1006/bmmb.1994.1024","DOIUrl":null,"url":null,"abstract":"The linkage of the intragenic polymorphic (GATT)n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (delta F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of delta F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat was found.","PeriodicalId":8752,"journal":{"name":"Biochemical medicine and metabolic biology","volume":"51 2","pages":"Pages 185-187"},"PeriodicalIF":0.0000,"publicationDate":"1994-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmmb.1994.1024","citationCount":"0","resultStr":"{\"title\":\"Identification of the Linkage of Mutations Causing Cystic Fibrosis to Different Alleles of a Tetranucleotide Repeat in Intron 6a of the CFTR Gene\",\"authors\":\"Potapova O.Y., Voronina O.V., Gaitskhoki V.S., Bogacheva E.V., Uembitskaya T.E., Kuprina E.A., Kapranov N.I., Berlin Y.A., Schwartz E.I.\",\"doi\":\"10.1006/bmmb.1994.1024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The linkage of the intragenic polymorphic (GATT)n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (delta F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of delta F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat was found.\",\"PeriodicalId\":8752,\"journal\":{\"name\":\"Biochemical medicine and metabolic biology\",\"volume\":\"51 2\",\"pages\":\"Pages 185-187\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1994-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1006/bmmb.1994.1024\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biochemical medicine and metabolic biology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0885450584710243\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemical medicine and metabolic biology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0885450584710243","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Identification of the Linkage of Mutations Causing Cystic Fibrosis to Different Alleles of a Tetranucleotide Repeat in Intron 6a of the CFTR Gene
The linkage of the intragenic polymorphic (GATT)n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (delta F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of delta F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat was found.
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