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Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia

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单位： [1]Department of Obstetrics and Gynecology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,No. 1095 Jiefang Road,Wuhan,430030,Hubei,P.R. China. [2]Department of perinatal laboratory,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430030,Hubei,P.R. China. [3]Department of Andrology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430030,Hubei,P.R. China. [4]Department of Rehabilitation Medicine, Zhongnan Hospital of Wuhan University, Wuhan, 430071, Hubei, P.R. China.

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关键词： Copy number variation (CNV) Karyotyping Azoospermia Oligospermia

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Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated genes in patients.A total of 1157 azoospermia and oligospermia patients were recruited, of whom, 769 and 674 underwent next-generation sequencing (NGS) to identify CNVs and routine G-band karyotyping, respectively.First, 286 patients were co-analyzed using CNV sequencing (CNV-seq) and karyotyping. Of the 725 and 432 patients with azoospermia and oligospermia, 33.8% and 48.9% had abnormal karyotypes and CNVs, respectively. In particular, 47,XXY accounted for 44.18% and 26.33% of abnormal karyotypes and CNVs, respectively, representing the most frequent genetic aberration in azoospermia and oligospermia patients. Nevertheless, big Y and small Y accounted for 7.46% and 16.67% of abnormal karyotypes, respectively. We also identified high-frequency CNVs-loci, such as Xp22.31 and 2p24.3, in azoospermia and oligospermia patients.Sex chromosome and autosomal CNV loci, such as Xp22.31 and 2p24.3, as well as the associated genes, such as VCX and NACAP9, could be candidate spermatogenesis genes. The high-frequency abnormal karyotypes, CNV loci, and hot genes represent new targets for future research.© 2023. BioMed Central Ltd., part of Springer Nature.

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出版当年[2022]版：

大类 | 3 区医学

小类 | 3 区遗传学

最新[2025]版：

大类 | 4 区医学

小类 | 4 区遗传学

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出版当年[2021]版：

Q2 GENETICS & HEREDITY

最新[2023]版：

Q3 GENETICS & HEREDITY

影响因子： 2.1 最新[2023版] 2.5 最新五年平均 3.622 出版当年[2021版] 3.554 出版当年五年平均 3.063 出版前一年[2020版] 2.7 出版后一年[2022版]

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第一作者单位： [1]Department of Obstetrics and Gynecology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,No. 1095 Jiefang Road,Wuhan,430030,Hubei,P.R. China.

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