Copy number variation analysis in Turkish patients with congenital bilateral absence of vas deferens

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dc.contributor.authorDemir Ekşi, Durkadın
dc.contributor.authorYılmaz, Elanur
dc.contributor.authorAkın, Yiğit
dc.contributor.authorUsta, Mustafa Faruk
dc.contributor.authorBaşar, Mehmet Murad
dc.contributor.authorKahraman, Semra
dc.contributor.authorErman, Munire
dc.contributor.authorAlper, Özgül M.
dc.date.accessioned2022-09-29T08:38:09Z
dc.date.available2022-09-29T08:38:09Z
dc.date.issued2021
dc.departmentALKÜ, Fakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü
dc.description.abstractObjective: Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a developmental abnormality that causes infertility in males. According to the literature, up to 88% of 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% in Turkish patients with CBAVD. We aimed to identify genomic copy number variations (CNV) and candidate genomic regions which could related to the CBAVD in Turkish population. Methods: CNV analysis was performed in 19 Turkish CBAVD patients normal karyotypes and a wild type CFTR genotype. We suggested that the DAD1 gene may be a candidate gene related to CBAVD by reviewing online databases and analyzing CNV findings. Sanger sequencing of the DAD1 gene exons was performed in 22 patients. Results: We identified 11 CNVs that most likely related with the disease in nine of 19 (47.3%) patients. As the most common CNV, 14q11.2 deletions were detected in there (15.79%) of the patients. There was only DAD1 gene in the sharing genomic region of two of the 14q11.2 deletions. No sequence variation was detected in the DAD1 gene of the patients. Conclusion: The 14q11.2 chromosomal region and the DAD1 gene may be associated with CBAVD. Further studies are needed to indentify the contribution of CNVs and DAD1 gene to CBAVD etiology
dc.identifier.doi10.30565/medalanya.966940
dc.identifier.endpage189en_US
dc.identifier.issue2en_US
dc.identifier.startpage181en_US
dc.identifier.urihttps://dergipark.org.tr/tr/download/article-file/1869378
dc.identifier.urihttps://hdl.handle.net/20.500.12868/1716
dc.identifier.volume5en_US
dc.language.isoen
dc.relation.ispartofActa Medica Alanya
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCopy number variations
dc.subjectCBAVD
dc.subjectMale infertility
dc.subjectDAD1
dc.titleCopy number variation analysis in Turkish patients with congenital bilateral absence of vas deferens
dc.typeArticle

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2021 - Cilt 5 - Sayı 2