Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
Asian J Androl. 2020 Nov-Dec;22(6):642-648. doi: 10.4103/aja.aja_13_20.
Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear. This study was to investigate the incidence and characteristics of chromosomal aberrations and Y chromosome microdeletions in infertile men, and to explore whether there was a correlation between the two genetic defects of spermatogenic failure. A 7-year retrospective study was conducted on 5465 infertile men with nonobstructive azoospermia or oligozoospermia. Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding techniques. Y chromosome microdeletions were screened by multiplex PCR amplification with six specific sequence-tagged site (STS) markers. Among the 5465 infertile men analyzed, 371 (6.8%) had Y chromosome microdeletions and the prevalence of microdeletions in azoospermia was 10.5% (259/2474) and in severe oligozoospermia was 6.3% (107/1705). A total of 4003 (73.2%) infertile men underwent karyotyping; 370 (9.2%) had chromosomal abnormalities and 222 (5.5%) had chromosomal polymorphisms. Karyotype analysis was performed on 272 (73.3%) patients with Y chromosome microdeletions and 77 (28.3%) had chromosomal aberrations, all of which involved sex chromosomes but not autosomes. There was a significant difference in the frequency of chromosomal abnormalities between men with and without Y chromosome microdeletions (P< 0.05).
染色体异常和 Y 染色体微缺失被认为是导致生精失败的两个更常见的遗传原因。然而，染色体异常和 Y 染色体微缺失之间的关系尚不清楚。本研究旨在探讨不育男性中染色体异常和 Y 染色体微缺失的发生率和特征，并探讨这两种生精失败的遗传缺陷之间是否存在相关性。对 5465 名患有非阻塞性无精子症或严重少精子症的不育男性进行了 7 年的回顾性研究。采用标准 G 带技术对外周血淋巴细胞进行核型分析。采用 6 个特定序列标记位点（STS）标记物的多重 PCR 扩增筛选 Y 染色体微缺失。在分析的 5465 名不育男性中，371 名（6.8%）存在 Y 染色体微缺失，无精子症的微缺失发生率为 10.5%（259/2474），严重少精子症的微缺失发生率为 6.3%（107/1705）。共有 4003 名（73.2%）不育男性进行了核型分析；370 名（9.2%）存在染色体异常，222 名（5.5%）存在染色体多态性。对 272 名（73.3%）Y 染色体微缺失患者和 77 名（28.3%）染色体异常患者进行了核型分析，所有患者均涉及性染色体，但不涉及常染色体。有 Y 染色体微缺失和无 Y 染色体微缺失男性的染色体异常发生率有显著差异（P<0.05）。
