ORIGINAL ARTICLES   

Minerva Pediatrica 2015 October;67(5):407-11

Copyright © 2015 EDIZIONI MINERVA MEDICA

lingua: Inglese

Sequencing of the CFTR gene in selected Turkish patients with cystic fibrosis

Çankaya T. ¹, Arikan-Ayyildiz Z. ², Bora E. ¹, Uzuner N. ², Ulgenalp A. ¹ ✉

¹ Department of Medical Genetics, Dokuz Eylul University, Faculty of Medicine, Izmir, Turkey; ² Department of Pediatric Allergy and Immunology, Dokuz Eylul University, Faculty of Medicine, Izmir, Turkey

AIM: 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.
METHODS: 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.
RESULTS: Overall allele informativity increased from 4/34 (11.76%) to 13/34 (38.2%) after whole exon sequencing of CFTR in our patients.
CONCLUSION: 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.