斯洛伐克囊性纤维化患者CFTR基因中9种常见突变的分布情况。

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

作者信息

Kádasi L, Poláková H, Zatková A, Kayserová H

机构信息

Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.

出版信息

Gene Geogr. 1997 Apr;11(1):51-6.

Abstract

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.

摘要

对来自斯洛伐克117名无亲缘关系的囊性纤维化（CF）患者的234条CF染色体中CFTR基因的9种已知突变分布进行了研究。斯洛伐克这个群体在地理位置上处于西欧与东欧、北欧与南欧的交界地带。在该样本中鉴定出以下7种突变：ΔF508（59.4%）、G542X（5.56%）、R553X（3.42%）、N1303K（2.99%）、R347P（1.71%）、W1282X（0.85%）和3849 + 10 kb（0.43%）。这些突变占所有CF突变的74.36%，为斯洛伐克基于DNA的CF直接诊断提供了良好基础。

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