• PMID: 25042452
• Gene Name: CDY1B
• Condition: Male infertility
• Association: The findings show that deletion of CDY1b copy gene is a significant risk factor for male infertility independent of sperm concentration, whereas deletion of CDY1a gene seems to have no effect on fertility in the Tunisian population.
• Mutation: CDY1a, CDY1b copy deletions
• Population size: 356
• Population details: 356 (241 infertile men with different spermatogenic impairments, 115 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CDY1a, CDY1b
• Other associated phenotypes: Male infertility

Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men

Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L.

The relationship between male infertility and microdeletions in the Y chromosome that remove multiple genes varies among countries and populations. The aim of this study was to investigate the different types of Chromodomain protein, Y-linked 1 (CDY1) gene deletions and their effect on male infertility and spermatogenesis in Tunisian men. A total of 241 infertile men with different spermatogenic impairments and 115 fertile men were included in this study. We determined the prevalence of CDY1a and CDY1b copy deletions by PCR-RFLP using PvuII as restriction endonuclease. RESULTS: Among the 356 Tunisian individuals, 93.25% had the two copies (CDY1a and CDY1b) of CDY gene (91.2% in infertile patients and 97.3% in fertile men). We also found that deletion of CDY1b was significantly more frequent in infertile patients (azoo/oligospermic and normospermic) than in fertile men (7% vs 1.7% respectively; p value=0.02). However, deletion of CDY1a copy was very rare, and was detected in only one fertile man and four normospermic infertile patients. Our findings showed that deletion of CDY1b copy gene is a significant risk factor for male infertility independent of sperm concentration, whereas deletion of CDY1a gene seems to have no effect on fertility in the Tunisian population. CI - Copyright © 2014 Elsevier B.V. All rights reserved. FAU - Ghorbel, Myriam AU - Ghorbel M AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. Electronic address: myriamgh29@gmail.com. FAU - Baklouti-Gargouri, Siwar AU - Baklouti-Gargouri S AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. FAU - Keskes, Rim AU - Keskes R AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. FAU - Chakroun, Nozha AU - Chakroun N AD - Laboratory of Histology & Embryology, Faculty of Medicine, Sfax, Tunisia. FAU - Sellami, Afifa AU - Sellami A AD - Laboratory of Histology & Embryology, Faculty of Medicine, Sfax, Tunisia. FAU - Fakhfakh, Faiza AU - Fakhfakh F AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.