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Ghorbel, Myriam; Baklouti-Gargouri, Siwar; Keskes, Rim; Chakroun, Nozha; Sellami, Afifa; Fakhfakh, Faiza; Ammar-Keskes, Leila
Gene, 09/2014, Volume: 548, Issue: 2Journal Article
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. •Determination of CDY1 gene copy deletions in Tunisian infertile men•Deletion of CDY1b copy gene is a significant risk factor for male infertility.•Deletion of CDY1a gene seems to have no effect on fertility in Tunisian men.
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