To detect autosomal genetic defects and to determine candidate genes in Sertoli cell-only syndrome infertile men.
Single-nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell-only syndrome infertile patients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity.
A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage-gated channel subfamily Q member 1.
The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell-only syndrome.
International journal of urology : official journal of the Japanese Urological Association. 2018 Nov 26 [Epub ahead of print]
Gulsah Koc, Abdullah A Ozdemir, Gozde Girgin, Cem Akbal, Deniz Kirac, Tuba Avcilar, Ahmet I Guney
Department of Medical Biology and Genetics, Faculty of Medicine, Istanbul Aydin University, Istanbul, Turkey., Department of Urology, SBU Zeynep Kamil Women and Children's Diseases Education and Research Hospital, Istanbul, Turkey., Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Department of Urology, Faculty of Medicine, Acibadem University, Istanbul, Turkey., Department of Medical Biology, Faculty of Medicine, Yeditepe University, Istanbul, Turkey.