{"title":"斯洛伐克囊性纤维化患者CFTR基因9个常见突变的分布","authors":"L Kádasi, H Poláková, A Zatková, H Kayserová","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K (2.99%), R347P (1.71%), W1282X (0.85%), and 3849 + 10 kb (0.43%). These mutations represent 74.36% of all CF mutations, providing a good basis for direct DNA-based diagnosis of CF in Slovakia.</p>","PeriodicalId":77141,"journal":{"name":"Gene geography : a computerized bulletin on human gene frequencies","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1997-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.\",\"authors\":\"L Kádasi, H Poláková, A Zatková, H Kayserová\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K (2.99%), R347P (1.71%), W1282X (0.85%), and 3849 + 10 kb (0.43%). These mutations represent 74.36% of all CF mutations, providing a good basis for direct DNA-based diagnosis of CF in Slovakia.</p>\",\"PeriodicalId\":77141,\"journal\":{\"name\":\"Gene geography : a computerized bulletin on human gene frequencies\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1997-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene geography : a computerized bulletin on human gene frequencies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene geography : a computerized bulletin on human gene frequencies","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.
The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K (2.99%), R347P (1.71%), W1282X (0.85%), and 3849 + 10 kb (0.43%). These mutations represent 74.36% of all CF mutations, providing a good basis for direct DNA-based diagnosis of CF in Slovakia.
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