Abstract
Objective: Sertoli-cell-only syndrome (SCOs), also called germ cell aplasia, describes a condition of the testes in which only Sertoli cells line the seminiferous tubules and is diagnosed by testicular biopsy. SCOs is considered as irreversible infertility. SCOs, a histological diagnosis, consists of multifactorial reasons including Y microdeletions, Kleinefelter syndrome, cystic fibrosis gene mutations, XYY syndrome, cryptorchidism, radiation, cytotoxic drugs and viral infections. Although the etiology of the disease is currently unknown, it is believed that autosomal gene defects could lead to SCOs. The aim of this study was to detect autosomal genetic defects and to determine candidate genes in SCOs infertile men. Methods: Single nucleotide polymorphism + comparative genomic hybridization microarray technology (SNP+CGH array) was performed on 39 infertile patients with SCOs. Array CGH compares the patient’s genome against a reference genome and identifies uncover deletions, amplifications, ploidy abnormalities and loss of heterozygosity (LOH). Results: We examined a link between defected spermatogenesis genes and infertility. Detected amplifications and deletions in several genes are namely, SHBG, COL1A1, HOXD9, SYCE1, EMX2, EMX2OS, CATSPER2 and loss of heterozygosity in several genes are namely SPATA gene family (SPATA18, SPATA17, SPATA16, SPATA12, SPATA4, SPATA2), TSSK gene family (TSSK3, TSSK4, TSSK6), DNALI1, DNAH5, DNAH11, SPAG16, SPAG8, DMRT1, DMRT2, FSHR, LHCGR, GNRHR, SPACA1, SPACA3, TSGA10, SMCP, KIT, TCTE3, TEX14, FGF8. Amplifications and deletions were detected on some of the genes who play a role in epigenetic changes.Conclusion: Epigenetic genes (H19, KCNQ1, IGF2, CDKN1C) are expected to be linked with male infertility
Keywords
Abstract
Objective: Sertoli-cell-only syndrome (SCOs), also called germ cell aplasia, describes a condition of the testes in which only Sertoli cells line the seminiferous tubules and is diagnosed by testicular biopsy. SCOs is considered as irreversible infertility. SCOs, a histological diagnosis, consists of multifactorial reasons including Y microdeletions, Kleinefelter syndrome, cystic fibrosis gene mutations, XYY syndrome, cryptorchidism, radiation, cytotoxic drugs and viral infections. Although the etiology of the disease is currently unknown, it is believed that autosomal gene defects could lead to SCOs. The aim of this study was to detect autosomal genetic defects and to determine candidate genes in SCOs infertile men.
Methods: Single nucleotide polymorphism + comparative genomic hybridization microarray technology (SNP+CGH array) was performed on 39 infertile patients with SCOs. Array CGH compares the patient’s genome against a reference genome and identifies uncover deletions, amplifications, ploidy abnormalities and loss of heterozygosity (LOH).
Results: We examined a link between defected spermatogenesis genes and infertility. Detected amplifications and deletions in several genes are namely, SHBG, COL1A1, HOXD9, SYCE1, EMX2, EMX2OS, CATSPER2 and loss of heterozygosity in several genes are namely SPATA gene family (SPATA18, SPATA17, SPATA16, SPATA12, SPATA4, SPATA2), TSSK gene family (TSSK3, TSSK4, TSSK6), DNALI1, DNAH5, DNAH11, SPAG16, SPAG8, DMRT1, DMRT2, FSHR, LHCGR, GNRHR, SPACA1, SPACA3, TSGA10, SMCP, KIT, TCTE3, TEX14, FGF8. Amplifications and deletions were detected on some of the genes who play a role in epigenetic changes.
Conclusion: Epigenetic genes (H19, KCNQ1, IGF2, CDKN1C) are expected to be linked with male infertility.
Keywords
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Articles |
| Authors | |
| Publication Date | May 13, 2016 |
| Submission Date | May 4, 2015 |
| Published in Issue | Year 2014 2013 Doktora Programı Mezunları Özel Sayısı |
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