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

Biochemical medicine and metabolic biology Pub Date : 1994-04-01 DOI:10.1006/bmmb.1994.1024

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.

{"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}

引用次数: 0

摘要

研究了基因内多态性(GATT)n重复序列与多个囊性纤维化跨膜传导调节基因突变(Δ F-508、G542X、G551D、R553X、R1162X、W1282X、N1303K、R334W和R347P)的连锁关系。发现Δ F-508、G542X和N1303K与重复序列的6拷贝等位基因连锁，R334W与重复序列的7拷贝等位基因连锁。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Biochemical medicine and metabolic biology

自引率

0.00%

发文量