Screening for Y-chromosome microdeletions in a population of infertile males in the Gaza Strip.

Ashraf J Shaqalaih, Masood S Abu Halima, Mohammed J Ashour, Fadel A Sharif
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Abstract

Infertility is an extraordinary public health problem in the Arab world, as it affects about 15% of couples seeking children. The male partner is responsible for infertility in approximately half of these cases. Classic microdeletions of the Y-chromosome involving the azoospermia factor (AZF) regions are known to be associated with spermatogenic impairment, and non-obstructive azoospermia must be differentiated on the basis of endocrine evaluation and testicular biopsy. Partial AZFc deletions remain controversial because there is no clear agreement regarding their role in spermatogenic failure. In the current study, 50 fertile males (controls) and 125 patients with primary idiopathic male infertility were studied in order to describe the frequency of Y-chromosome mirodeletions among male infertility patients in the Gaza Strip-Palestine area. No Y chromosome classical microdeletions could be detected in any of the 125 infertile men, suggesting that ethnic factors, genetic background, and Y chromosome haplogroups are key factors in such deletions. On the other hand, six gr/gr and one b1/b3 AZFc partial deletions were detected in the infertile population. The gr/gr deletion was also noted in relatives of four of the six patients with this deletion, and in one of the fertile controls. In conclusion, our study shows that the incidence of Y-chromosome microdeletions in our population is rare; these data suggest that other genetic, epigenetic, nutritional and/or local factors are responsible for impairments in semen parameters observed in this Gazan population. We further hypothesise that the gr/gr deletion is not associated with male infertility, at least in this sub-group.

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在加沙地带不育男性人群中筛查y染色体微缺失。
不孕不育在阿拉伯世界是一个非常严重的公共卫生问题,因为它影响了大约15%想要孩子的夫妇。在这些病例中,大约有一半是男性伴侣造成的。已知涉及无精子症因子(AZF)区域的典型y染色体微缺失与生精功能障碍有关,必须根据内分泌评估和睾丸活检来区分非阻塞性无精子症。部分AZFc缺失仍然存在争议,因为对于它们在生精失败中的作用没有明确的共识。在本研究中,我们研究了50名有生育能力的男性(对照)和125名原发性特发性男性不育症患者,以描述加沙地带-巴勒斯坦地区男性不育症患者中y染色体微缺失的频率。在125例不育男性中均未检测到Y染色体经典微缺失,提示种族因素、遗传背景和Y染色体单倍群是导致此类缺失的关键因素。另一方面,在不育群体中检测到6个gr/gr和1个b1/b3 AZFc部分缺失。在6名有这种缺失的患者中,有4名患者的亲属和一名有生育能力的对照组中也发现了gr/gr缺失。总之,我们的研究表明,y染色体微缺失的发生率在我们的人群是罕见的;这些数据表明,其他遗传、表观遗传、营养和/或当地因素是造成在加沙人口中观察到的精液参数受损的原因。我们进一步假设,至少在这个亚组中,gr/gr缺失与男性不育无关。
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