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Y-chromosomal microdeletions and partial deletions of the AZFc region in normozoospermic, severe oligozoospermic and azoospermic men from Sri Lanka.

机译:来自斯里兰卡的正常精子,重性少精子和无精子症患者的Y染色体微缺失和AZFc区的部分缺失。

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摘要

Aim: To assess for the first time the occurrence of Y chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in Sri Lankan men and to correlate them with clinical parameters.Methods: In a retrospective study, we analyzed 96 infertile men (78 with non-obstructive azoospermia) and 87 controls with normal spermatogenesis. AZFa, AZFb, AZFc and partial deletions within the AZFc region were analyzed by multiplex polymerase chain reaction (PCR) according to established protocols.Results: No AZFa, AZFb or AZFc deletions were found in the control group. Seven patients in the group of infertile men were found to have deletions as following: one AZFa, two AZFc, two AZFbc and two AZFabc. The relative distribution of these patterns was significantly different compared with that found in the German population. Extension analysis confirmed that the deletions occurred according to the current pathogenic model. gr/gr deletions were found to be equally present both in the patients (n= 4) and in the control group (n= 4). One b2/b3 deletion was found in the patient group.Conclusion: These results suggest that the frequency and pattern of microdeletions of the Y chromosome in Sri Lankan men are similar to those found in other populations and confirm that gr/gr deletions are not sufficient to cause spermatogenetic failure.
机译:目的:首次评估斯里兰卡男性Y染色体微缺失和无精子因子c(AZFc)区域的部分缺失,并将其与临床参数相关联。方法:在一项回顾性研究中,我们分析了96名不育男性(78例非阻塞性无精子症)和87例正常精子发生的对照。根据建立的方案,通过多重聚合酶链反应(PCR)分析了AZFa,AZFb,AZFc和AZFc区域内的部分缺失。结果:对照组中未发现AZFa,AZFb或AZFc缺失。发现不育男性组中的7名患者具有以下缺失:1个AZFa,2个AZFc,2个AZFbc和2个AZFabc。这些模式的相对分布与德国人口相比有显着差异。延伸分析证实,缺失是根据当前的病原模型发生的。发现在患者(n = 4)和对照组(n = 4)中均存在gr / gr缺失。在患者组中发现了一个b2 / b3缺失。结论:这些结果表明斯里兰卡男性Y染色体微缺失的频率和模式与其他人群中的相似,并证实gr / gr缺失不足导致生精失败。

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