Copy number variation analysis in Turkish patients with congenital bilateral absence of vas deferens
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Erişim
info:eu-repo/semantics/openAccessTarih
2021Yazar
Demir Ekşi, DurkadınYılmaz, Elanur
Akın, Yiğit
Usta, Mustafa Faruk
Başar, Mehmet Murad
Kahraman, Semra
Erman, Munire
Alper, Özgül M.
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Objective: 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
Kaynak
Acta Medica AlanyaCilt
5Sayı
2Bağlantı
https://dergipark.org.tr/tr/download/article-file/1869378https://hdl.handle.net/20.500.12868/1716