In human gamete development, the important period is spermatogenesis, which is organized by specific genes on Y chromosome. In some cases, the infertile men have shown microdeletions on Y chromosome, which seemed as if the structural chromosome variance is linked to the reduction of sperm count. This study aimed to determine the frequency and patterns of Y chromosome microdeletions in azoospermia factor (AZF) of Iraqi infertile males. Here, 90 azoospermic infertile males as a study group and 95 normal fertile males as control group were investigated for the microdeletion of AZF loci using numerous sequence-tagged sites. Of these 90 infertile male patients, 43 (47.8%) demonstrated Y chromosome microdeletions, in which AZFb region was the most deleted section in azoospermia patients (33.3%) followed by deletions in the AZFc region (23%), while there were no microdeletion in the AZFa region. The largest microdeletion involved in both AZFb and AZFc was detected in six azoospermic patients (6.7%). The present study demonstrated a high frequency of Y chromosome microdeletions in the infertile Iraqi patients which is not reported previously. The high frequency of deletions may be due to the association of ethnic and genetic factors. PCR-based Y chromosome screening for microdeletions has a potential to be used in infertility clinics for genetic counselling and assisted reproduction.

中文翻译：

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伊拉克人群无精子不育男性 Y 染色体微缺失的患病率

在人类配子发育中，重要的时期是精子发生，它由Y染色体上的特定基因组织。在某些情况下，不育男性在 Y 染色体上显示出微缺失，这似乎染色体结构变异与精子数量减少有关。本研究旨在确定伊拉克不育男性无精子症因子 (AZF) 中 Y 染色体微缺失的频率和模式。在这里，作为研究组的 90 名无精子症不育男性和作为对照组的 95 名正常可育男性使用大量序列标记位点研究了 AZF 基因座的微缺失。在这 90 名不育男性患者中，43 名（47.8%）表现出 Y 染色体微缺失，其中 AZFb 区域是无精子症患者中缺失最多的部分（33.3%），其次是 AZFc 区域的缺失（23%），而在 AZFa 区域没有微缺失。在 6 名无精子症患者 (6.7%) 中检测到 AZFb 和 AZFc 中涉及的最大微缺失。本研究表明，伊拉克不育患者中存在高频率的 Y 染色体微缺失，这是以前未报道的。高频率的缺失可能是由于种族和遗传因素的关联。基于 PCR 的 Y 染色体微缺失筛查有可能用于不孕症诊所的遗传咨询和辅助生殖。高频率的缺失可能是由于种族和遗传因素的关联。基于 PCR 的 Y 染色体微缺失筛查有可能用于不孕症诊所的遗传咨询和辅助生殖。高频率的缺失可能是由于种族和遗传因素的关联。基于 PCR 的 Y 染色体微缺失筛查有可能用于不孕症诊所的遗传咨询和辅助生殖。