Hadj-Kacem L, Hadj-Kacem H, Ayadi H, Ammar-Keskes L, Chakroun-Fki N, Rebai T, Bahloul A, Mhiri M N
Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
Arch Androl. 2006 May-Jun;52(3):169-74. doi: 10.1080/01485010500397964.
The aim of this study was to establish the prevalence of Y chromosomal microdeletions in infertile Tunisian men. Three groups of infertile men, 65 normospermic, 53 oligozoospermic and 45 azoospermic, were tested for Yq microdeletions detection by multiplex polymerase chain reaction (PCR) using specific Y chromosome AZF regions tagged site markers (STS). One group of 13 healthy men was used as the control group. Six STS were tested (2 in each AZF region). The general prevalence of AZF microdeletions was 16%; in azoospermia and severe oligospermia groups, it was higher (29% and 30.5%, respectively). Significant differences were found with moderate oligospermic and normospermic groups (p < 0,05). AZFc microdeletions were the most frequent, and 55% of AZFc deleted patients were oligospermic. No deletions were detected in the control group. These results add to the growing literature data, showing that microdeletions of the Y chromosome is an important cause of severe spermatogenetic defect and confirm that deletion in AZFc region is the most common and is compatible with residual spermatogenesis.
本研究的目的是确定突尼斯不育男性中Y染色体微缺失的患病率。对三组不育男性进行检测，65例精子正常、53例少精子症和45例无精子症患者，采用多重聚合酶链反应（PCR），使用特定的Y染色体无精子因子（AZF）区域标记位点（STS）进行Yq微缺失检测。选取13名健康男性作为对照组。检测了6个STS（每个AZF区域2个）。AZF微缺失的总体患病率为16%；在无精子症和严重少精子症组中，患病率更高（分别为29%和30.5%）。与中度少精子症和精子正常组相比，差异有统计学意义（p<0.05）。AZFc微缺失最为常见，55%的AZFc缺失患者为少精子症。对照组未检测到缺失。这些结果进一步丰富了现有文献数据，表明Y染色体微缺失是严重生精缺陷的重要原因，并证实AZFc区域的缺失最为常见，且与残余生精功能相符。
