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

作者：Ghorbel Myriam^*; Baklouti Gargouri Siwar; Keskes Rim; Chakroun Nozha; Sellami Afifa; Fakhfakh Faiza; Ammar Keskes Leila

来源：Gene, 2014, 548(2): 251-255.

DOI：10.1016/j.gene.2014.07.042

• Male infertility
• Y chromosome
• Chromodomain protein, Y-linked (CDY) gene
• Copy gene deletion

The relationship between male infertility and microdeletions in the Y chromosome that remove multiple genes varies among countries and populations. The dim 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 Pvull as restriction endonuclease. Results: Among the 356 Tunisian individuals, 93.25% had the two copies (CDY1a and CDY1b) of CDY gene (912% in infertile patients and 973% 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.

• 出版日期2014-9-15