对一组罗马尼亚患者的囊性纤维化跨膜传导调节因子基因突变的研究。
The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
作者信息
Frenţescu Lucian, Brownsell Emma, Hinks Joanna, Malone Geraldine, Shaw Helen, Budişan Livia, Bulman Michael, Schwarz Martin, Pop Liviu, Filip Mirela, Tomescu Emil, Moşescu Simona, Popa Ioan, Benga Gheorghe
机构信息
Department of Cell and Molecular Biology, Iuliu Haţieganu University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania.
出版信息
J Cyst Fibros. 2008 Sep;7(5):423-8. doi: 10.1016/j.jcf.2008.03.004. Epub 2008 May 7.
BACKGROUND
Cystic fibrosis (CF) is produced by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) gene.
METHODS
One hundred twenty eight patients with CF were analysed for mutations in the CFTR gene in order to establish the frequency of CF mutations in the Romanian population. The chief methods of analysis were polymerase chain reaction (PCR) of DNA extracted from blood and electrophoresis of PCR products.
RESULTS
The frequency of F508del in CF chromosomes from Romania is approximately 56.3%. Other frequent mutations noted are: G542X (3.9%), W1282X (2.3%), and CFTRdele2,3(21 kb)(1.6%); the remaining mutations have frequencies below 1%.
CONCLUSIONS
We consider that the frequency of F508del in CF patients from Romania is higher than in previous reports, reaching 56.3%, probably owing to more rigorous selection of patients for genetic testing, allowing improved calculation of mutation frequencies.
背景
囊性纤维化（CF）由囊性纤维化跨膜传导调节因子基因（CFTR）突变所致。
方法
对128例CF患者的CFTR基因进行突变分析，以确定罗马尼亚人群中CF突变的频率。主要分析方法是对从血液中提取的DNA进行聚合酶链反应（PCR）以及对PCR产物进行电泳。
结果
罗马尼亚CF染色体中F508del的频率约为56.3%。其他常见突变包括：G542X（3.9%）、W1282X（2.3%）和CFTRdele2,3(21 kb)（1.6%）；其余突变频率低于1%。
结论
我们认为罗马尼亚CF患者中F508del的频率高于先前报道，达到56.3%，这可能是由于对进行基因检测的患者选择更为严格，从而使突变频率的计算更为准确。
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