Liu Yongjie, Shi Dongmei, Zhang Fan, Dai Liang, Ma Wenzhi
Department of Reproductive Center, Yinchuan Maternal and Child Health Care Hospital, Yinchuan, China.
Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education, and Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region, School of Basic Medical Science, Ningxia Medical University, Yinchuan, China.
Transl Androl Urol. 2022 May;11(5):675-682. doi: 10.21037/tau-22-301.
To analyze the relationship between copy number variations (CNVs) and azoospermia by analyzing the chromosome gene copy data of 156 patients with azoospermia.
A total of 156 azoospermia patients who were treated in our hospital from October 2018 to May 2021 were selected. Informed consent was signed, and semen analysis, testicular biopsy, and chromosome gene detection were carried out. CNVs were analyzed by next-generation sequencing (NGS) detection, and the obtained results were statistically analyzed.
Among the 156 azoospermia patients, 81 cases had sperm in the testicular puncture and 75 cases had no sperm in the testicular puncture. There was a significant difference in CNV detection between the 2 groups (P<0.05). Detailed analysis of CNVs on chromosomes 2, 3, 5, 10, and 11 yielded the following results: 132 genes were found in autosomal chromosomes with CNVs and the percentage was >5%, including 8 deletions and 124 repetitions; CNVs on chromosome 2 found 11 genes, of which 3 were deleted and 8 were duplicated; 17 genes were found in CNVs on chromosome 3, including 3 deletions and 14 duplications; 12 genes were found in CNVs on chromosome 5, of which 2 were deleted and 10 were repeated; 72 genes were found in CNVs on chromosome 10, all of which were duplicates; CNVs on chromosome 11 found 20 genes, all of which were duplicates.
The chromosome changes caused by CNVs in structure or function may affect the component of spermatogenesis, interfere with mitosis and/or meiosis in the process of spermatogenesis, and lead to azoospermia.
通过分析156例无精子症患者的染色体基因拷贝数据，分析拷贝数变异（CNV）与无精子症之间的关系。
选取2018年10月至2021年5月在我院治疗的156例无精子症患者。签署知情同意书后，进行精液分析、睾丸活检和染色体基因检测。通过下一代测序（NGS）检测分析CNV，并对所得结果进行统计学分析。
156例无精子症患者中，睾丸穿刺有精子者81例，睾丸穿刺无精子者75例。两组间CNV检测存在显著差异（P<0.05）。对2号、3号、5号、10号和11号染色体上的CNV进行详细分析，结果如下：常染色体上发现132个基因存在CNV，且百分比>5%，其中缺失8个，重复124个；2号染色体上的CNV发现11个基因，其中缺失3个，重复8个；3号染色体上的CNV发现17个基因，其中缺失3个，重复14个；5号染色体上的CNV发现12个基因，其中缺失2个，重复10个；10号染色体上的CNV发现72个基因，均为重复；11号染色体上的CNV发现20个基因，均为重复。
CNV引起的染色体结构或功能改变可能影响精子发生的组成成分，干扰精子发生过程中的有丝分裂和/或减数分裂，导致无精子症。
