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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Copy number variations in female infertility in China
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Copy number variations in female infertility in China

机译：中国女性不孕症的复制数变异

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Copy number variation (CNV) is a main cause of male infertility, yet its influence still remains elusive in that of females. To investigate the correlation between CNV and female infertility, we applied whole-genome CNV analyses by next generation Sequencing (NGS), and analyzed 324 female infertility samples in Xinjiang Province, People's Republic of China. We identified 29 CNVs in total, of which 10 were novel CNVs. We found these CNVs mostly in chromosome X. The CNVs from one sample overlapped the POF1B gene that was related to premature ovarian failure (POF). The rest of these CNVs overlapped important functional genes related to neuropathy, brain, skin and retina, and the relationship between these CNVs and fertility needs to be studied further. We also found recurrent CNVs located on Xp22.31 and 22ql 1.21 in five and three cases, respectively. Our study first identified and characterized CNVs (CNVs preference, recurrent CNVs) in female infertility, also provided genetic evidence and references for future study and infertility etiology research.
机译：复制数变异（CNV）是男性不孕症的主要原因，但其影响仍然难以妨碍女性。为了探讨CNV与雌性不孕之间的相关性，我们通过下一代测序（NGS）应用全基因组CNV分析，并分析了中华人民共和国新疆的324例女性不孕症样本。我们共鉴定了29个CNV，其中10个是新的CNV。我们在染色体X中发现这些CNV。来自一个样品的CNV与过早卵巢衰竭（POF）有关的POF1B基因重叠。这些CNV的其余部分与神经病变，脑，皮肤和视网膜相关的重要功能基因重叠，并且需要进一步研究这些CNV和生育能力之间的关系。我们还发现分别在XP22.31和第22杆和22 Q111中的复发性CNV分别在五个和三种情况下。我们的研究首先在雌性不孕症中鉴定并表征了CNVS（CNVS偏好，复发性CNV），还提供了遗传证据和对未来研究和不孕症病因研究的参考。

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