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Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2021-06-09 , DOI: 10.1038/s10038-021-00943-9
Yasuko Ogiwara 1, 2 , Mami Miyado 1 , Erina Suzuki 1 , Sumpei Niida 3 , Kouichi Ozaki 3 , Maki Fukami 1
Affiliation  

Human Y chromosomes frequently acquire structural and numerical alterations. Known alterations include germline copy-number variations (CNVs) in the azoospermia factor (AZF) region and somatic mosaic loss of the Y chromosome (mLOY). Here, we explored Y chromosomal variations in 160 Japanese men aged 75–90 years. Multiplex ligation-dependent probe amplification (MLPA) identified ten types of AZF-linked CNVs in 77 men and mLOY of various degrees in 37. Seventeen men carried both a CNV and mLOY. MLOY levels estimated by MLPA were closely correlated with those determined by droplet digital PCR. No association was found between AZF-linked CNVs and the frequency or levels of mLOY. These results emphasize the high frequency and large inter-individual variability of AZF-linked CNVs and mLOY, and demonstrate the usefulness of MLPA in the detection of these variations. More importantly, this study provides the first evidence that AZF-linked CNVs do not increase the risk of aging-related mLOY.



中文翻译:

通过多重连接依赖性探针扩增鉴定老年男性的结构和数值 Y 染色体变异

人类 Y 染色体经常发生结构和数值上的改变。已知的改变包括无精子因子 (AZF) 区域的种系拷贝数变异 (CNV) 和 Y 染色体 (mLOY) 的体细胞镶嵌缺失。在这里,我们探讨了 160 名 75-90 岁日本男性的 Y 染色体变异。多重连接依赖性探针扩增 (MLPA) 在 77 名男性中发现了 10 种与 AZF 相关的 CNV,在 37 名中发现了不同程度的 mLOY。17 名男性同时携带 CNV 和 mLOY。MLPA 估计的 MLOY 水平与微滴数字 PCR 确定的水平密切相关。在 AZF 相关的 CNV 与 mLOY 的频率或水平之间没有发现关联。这些结果强调了 AZF 连接的 CNV 和 mLOY 的高频率和大的个体间变异性,并证明 MLPA 在检测这些变化方面的有用性。更重要的是,这项研究提供了第一个证据表明 AZF 相关的 CNV 不会增加与衰老相关的 mLOY 的风险。

更新日期:2021-06-09
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