Çankaya T, Arikan-Ayyildiz Z, Bora E, Uzuner N, Ulgenalp A
Department of Medical Genetics, Dokuz Eylul University, Faculty of Medicine, Izmir, Turkey -
Minerva Pediatr. 2015 Oct;67(5):407-11.
Common mutation detection panels are usually used in clinical practice in most of the centers of our country in order to demonstrate mutations of cystic fibrosis (CF) patients. But heterogenicity of CFTR mutations in Turkey makes identification of CFTR mutations extremely difficult while using common mutation detection panels.
In this report, we described our experience and findings in offering sequencing of the CFTR gene to 17 patients in which no mutations were identified by common mutation analysis.
Overall allele informativity increased from 4/34 (11.76%) to 13/34 (38.2%) after whole exon sequencing of CFTR in our patients.
Genotype of CF patients could be entirely described in some of our patients by CFTR sequencing but there is still a group of patients, independently from their clinical classification whose mutations can not be determined by CFTR sequencing.
在我国大多数中心的临床实践中，通常使用常见突变检测面板来显示囊性纤维化（CF）患者的突变情况。但在土耳其，CFTR突变的异质性使得在使用常见突变检测面板时，CFTR突变的鉴定极其困难。
在本报告中，我们描述了对17例通过常见突变分析未鉴定出突变的患者进行CFTR基因测序的经验和发现。
对我们的患者进行CFTR全外显子测序后，总体等位基因信息率从4/34（11.76%）提高到13/34（38.2%）。
通过CFTR测序，我们的一些患者的CF基因型可以得到完整描述，但仍有一组患者，无论其临床分类如何，其突变无法通过CFTR测序确定。
