Konjenital Bilateral Vas Deferens Yokluğu Olan Türk Hastalarda Genomik Kopya Sayısı Varyasyonları Analizi

Aim: Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a developmental abnormality that causes infertility in males. According to literature, up 88% CBAVD cases have at least one pathogenic Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutation. However, based on our previous data, this rate was 15.90% Turkish patients with CBAVD. We aimed identify genomic copy number variations (CNV) and candidate regions which could related population.Methods: CNV analysis performed 19 normal karyotypes wild type CFTR genotype. suggested DAD1 may be by reviewing online databases analyzing findings. Sanger sequencing exons 22 patients.Results: identified 11 CNVs most likely disease nine (47.3%) patients. As common CNV, 14q11.2 deletions were detected there (15.79%) There only sharing region two deletions. No sequence variation patients.Conclusion: The chromosomal associated Further studies are needed indentify contribution etiology.