拷贝数变异（CNVs）和核型分析在无精子症和少精子症男性中的应用。

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

机构信息

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.

Department of perinatal laboratory, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, P.R. China.

出版信息

BMC Med Genomics. 2023 Sep 8;16(1):213. doi: 10.1186/s12920-023-01652-2.

DOI:10.1186/s12920-023-01652-2

PMID:37684669

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10485952/

Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSION

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.

摘要

背景

鉴于遗传因素在无精子症和少精子症中的重要作用，本研究旨在通过核型分析和 CNV 分析识别患者的异常染色体，并阐明相关基因。

方法

共招募了 1157 名无精子症和少精子症患者，其中 769 名和 674 名分别接受了下一代测序（NGS）以识别 CNV 和常规 G 带核型分析。

结果

首先，对 286 名患者同时进行了 CNV 测序（CNV-seq）和核型分析。在 725 名无精子症和 432 名少精子症患者中，分别有 33.8%和 48.9%的患者存在异常核型和 CNV。特别是，47,XXY 分别占异常核型和 CNV 的 44.18%和 26.33%，是无精子症和少精子症患者中最常见的遗传异常。然而，大 Y 和小 Y 分别占异常核型的 7.46%和 16.67%。我们还在无精子症和少精子症患者中鉴定了高频 CNV 位置，如 Xp22.31 和 2p24.3。