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

BMC Medical Genomics

Research

Jiaqiao Zhang¹  Ying Zhu²  Shufang Li²  Cong Zhang²  Shaoshuai Wang²  Xing Xin²  Yi Jiang²  Long Zhang²  Ling Feng²  Hailong Huang³  Peng Xu⁴  Nan Wang⁴ 

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

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

DOI  :  10.1186/s12920-023-01652-2

 received in 2023-05-27, accepted in 2023-08-29,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundConsidering 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.MethodsA 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.ResultsFirst, 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.ConclusionSex 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.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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