Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients with unidentified mutated alleles in CFTR sequencing analysis. We collected MLPA analyses of 527 patients from Turkey who had at least one unidentified mutation in CFTR sequence analysis. Heterozygous/homozygous deletions were detected in the CFTR gene in 49 individuals (9.2%) from 35 families. Twelve different single/multi exon deletions were demonstrated, two of which were not previously reported in the literature. Mutations have previously reported in patients from various regions including Asia, Europe, and Africa, and Turkey is located at a crossroads between them. The most frequent mutation was the exon 2 deletion, accounting for 60%. Moreover, patients with exon 2 deletions, were especially originated from northern Turkey. This finding is valuable in leading and shaping planned screening programs in Turkey. Our study, the most comprehensive study for rearrangement analysis in patients from Tukey, revealed a candidate hotspot region of patients suspected of having CFTR-related disorders from Turkey.

囊性纤维化是一种遗传性疾病，主要影响汗腺，呼吸系统，消化系统和生殖系统。在不同种族和国家/地区，CFTR报道了许多不同类型的突变。建议在CFTR测序分析中对未鉴定突变等位基因的患者进行CFTR基因重排分析。我们收集了来自土耳其的527名患者的MLPA分析，这些患者在CFTR序列分析中至少存在一个未鉴定的突变。在CFTR中检测到杂合/纯合缺失基因来自35个家庭的49个个体（9.2％）。证实了十二个不同的单/多外显子缺失，其中两个以前未在文献中报道。先前曾报道过来自亚洲，欧洲和非洲等不同地区的患者发生突变，而土耳其位于它们之间的十字路口。最常见的突变是外显子2缺失，占60％。此外，外显子2缺失的患者尤其来自土耳其北部。这一发现对于在土耳其领导和制定计划的筛查计划非常有价值。我们的研究是针对Tukey患者进行的最全面的重排分析研究，它揭示了土耳其疑似患有CFTR相关疾病的患者的候选热点地区。