دورية أكاديمية
A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility
| العنوان: | A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility |
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| المؤلفون: | Sengun, D.A., Tanoglu, E.G., Ulucan, H. |
| بيانات النشر: | Medicinska Naklada Zagreb |
| سنة النشر: | 2021 |
| الوصف: | Aim To perform a mutation analysis of FK506 binding protein-like (FKBPL) in patients with azoospermia. Methods DNA samples were isolated from the peripheral blood of 30 azoospermic male patients with normal 46 XY karyotype and 10 healthy controls. Multiplex polymerase chain reaction assays were used to evaluate Y microdeletions, and the patients without deletions were further analyzed. Sanger sequencing was used for mutation analysis. Results A heterozygous adenine to guanine substitution was observed at position c.28 (c.28A>G) (one patient), guanine to adenine substitution at c.90 (c.90G>A) (three patients), and a novel insertion mutation of TCTCATAAGTCT at c. 229_240dup (two patients), all in FKBPL exon 2. Furthermore, four different benign variants were observed in the same gene. Conclusion Our study supports the literature on the etiologic effects of changes on autosomal chromosomes and highlights the importance of molecular analysis of all known and unknown genes that could be involved in male sexual development and function. © 2021 Medicinska Naklada Zagreb. All rights reserved. ; 49023 ; Acknowledgment We thank Dr Alpaslan Tanoglu and Dr Bugrahan Duz for their valuable contributions. Funding This research was supported by Istanbul University Scientific Research Project, grant number: 49023. Ethical approval given by the Ethics Committee of the Istanbul University Cerrahpasa Medical Faculty (239656). Declaration of authorship DAS and HU conceived and designed the study; EGT acquired the data; DAS and HU analyzed and interpreted the data; EGT, DAS and HU drafted the manuscript; EGT and HU critically revised the manuscript for important intellectual content; all authors gave approval of the version to be submitted; all authors agree to be accountable for all aspects of the work. Competing interests All authors have completed the Unified Competing Interest form at www.icmje.org/coi_disclosure.pdf (available on request from the corresponding author) and declare: no support from any organization for the ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0353-9504 |
| العلاقة: | Croatian Medical Journal; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3325/cmj.2021.62.227Test; https://hdl.handle.net/20.500.12831/7004Test; 62; 227; 232; 2-s2.0-85110380124; PubMed: 34212559 |
| DOI: | 10.3325/cmj.2021.62.227 |
| الإتاحة: | https://doi.org/10.3325/cmj.2021.62.227Test https://doi.org/20.500.12831/7004Test https://hdl.handle.net/20.500.12831/7004Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.63E807FB |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 03539504 |
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| DOI: | 10.3325/cmj.2021.62.227 |