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首页> 外文期刊>The Application of Clinical Genetics >Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia
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Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia

机译：独立于埃及特发性非阻塞性无精子症患者样本中的DAZL-T54A变体和AZF微缺失

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Background: The microdeletion events that occur in the Y chromosome-azoospermia factor ( AZF ) region may lead to dyszoospermia. Also, the deleted azoospermia ( DAZ ) gene on AZFc and autosomal deleted azoospermia like gene ( DAZL ) are suggested to represent impairment, so it is interesting to determine the independency pattern of the AZF region and DAZL gene in azoospermic patients. Aim: To study the molecular characterization of AZFc and DAZL in 64 idiopathic non-obstructed azoospermia patients and 30 sexually reproductive men. Methods: SYBR Green I (Q-PCR) and AZF -STS analysis was used for DAZ gene, and SNV-PCR and confirmative Sanger sequencing for DAZL gene. Results: The present study observed that 15.6% had AZFc microdeletion, out of which 10% had DAZ1/2 deletion, and no T54A variant in the DAZL gene was found. Conclusion: In the current work, the novelty is that spermatogenic impairment phenotype, present with AZFc microdeletions, is independent of the T54A variant in the DAZL gene, and AZFc microdeletions could be a causative agent in spermatogenic impairment.
机译：背景：Y染色体无精症因子（AZF）地区发生的微缺失事件可能导致精子异常。此外，AZFc上缺失的无精子（DAZ）基因和常染色体缺失的无精子样基因（DAZL）都被认为是损伤，因此确定无精子症患者AZF区和DAZL基因的独立性很有趣。目的：研究AZFc和DAZL在64位特发性非阻塞性无精子症患者和30名性生殖男性中的分子特征。方法：SYBR Green I（Q-PCR）和AZF -STS分析用于DAZ基因，SNV-PCR和Sanger测序证实DAZL基因。结果：本研究观察到15.6％的AZFc微缺失，其中10％的DAZ1 / 2缺失，在DAZL基因中未发现T54A变异。结论：在目前的工作中，新颖的是存在AZFc微缺失的生精障碍表型与DAZL基因中的T54A变体无关，并且AZFc微缺失可能是导致生精障碍的致病因子。

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