Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients

被引：0

作者：

Kadasi, L

Polakova, H

Zatkova, A

Kayserova, H

机构：

[1] Inst Mol Physiol & Genet, SK-83334 Bratislava, Slovakia

[2] Derer Hosp, Childrens Dept, Bratislava, Slovakia

来源：

GENE GEOGRAPHY | 1997年 / 11卷 / 01期

关键词：

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

引用

页码：51 / 56

页数：6

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