Ghorbel Myriam, Gargouri Siwar Baklouti, Zribi Nacira, Abdallah Fatma Ben, Cherif Mariem, Keskes Rim, Chakroun Nozha, Sellami Afifa, McElreavey Ken, Fakhfakh Faiza, Ammar-Keskes Leila
Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
Genet Test Mol Biomarkers. 2012 Jul;16(7):775-9. doi: 10.1089/gtmb.2012.0024. Epub 2012 Jun 25.
Azoospermia factor (AZF) subdeletions were reported to be significant risk factors for spermatogenesis. In this study, we screened classical and partial microdeletions of the Y-chromosome AZF region in a group of 261 infertile men. Partial deletions were also screened in a control group of fertile men (n=124). In addition, Y haplogroups were analyzed in 24 gr/gr deleted patients. Among the 261 studied infertile men, seven subjects were found to have classical microdeletions. The most common partial deletion of AZFc (gr/gr) was observed in 13.02% of infertile men and in 12.90% of fertile men. The b1/b3 deletion was identified in 4.98% of infertile men and in 2.41% of fertile men. In addition, the b2/b3 deletion was identified in 1.53% of infertile patients but not in the control group. Our results suggest that partial AZFc deletions are not associated with spermatogenic failure in the Tunisian population.
无精子症因子（AZF）微缺失据报道是精子发生的重要风险因素。在本研究中，我们在一组261名不育男性中筛查了Y染色体AZF区域的经典和部分微缺失。在一组生育男性对照组（n = 124）中也筛查了部分缺失。此外，对24例gr/gr缺失患者进行了Y单倍群分析。在261名研究的不育男性中，发现7名受试者存在经典微缺失。AZFc最常见的部分缺失（gr/gr）在13.02%的不育男性和12.90%的生育男性中观察到。b1/b3缺失在4.98%的不育男性和2.41%的生育男性中被鉴定出。此外，b2/b3缺失在1.53%的不育患者中被鉴定出，但在对照组中未发现。我们的结果表明，部分AZFc缺失与突尼斯人群的精子发生失败无关。
