男性外周血白细胞中可检测到的染色体 X 嵌合体很少被耐受。
Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes.
机构信息
Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD, 20850, USA.
Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Rockville, MD, 20850, USA.
出版信息
Sci Rep. 2021 Jan 13;11(1):1193. doi: 10.1038/s41598-020-80948-0.
Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a population-based survey of 196,219 UK Biobank men. We detected 12 (0.006%) men with mosaic chromosome X gains ≥ 2 Mb and found no evidence for mosaic chromosome X loss, a level of detection substantially lower than for autosomes or other sex chromosomes. The rarity of chromosome X mosaicism in males relative to females reflects the importance of chromosome X gene dosage for leukocyte function.
在基于人群的大型研究中，常观察到与年龄相关的男性 Y 染色体和女性 X 染色体嵌合体。为了调查男性 X 染色体嵌合体的频率，我们在一项针对 196219 名英国生物库男性的基于人群的调查中，扫描了染色体 X 基因分型阵列强度数据中的偏差。我们检测到 12 名（0.006%）男性存在 X 染色体获得≥2 Mb 的嵌合体，并且没有发现 X 染色体丢失的嵌合体，这种检测水平明显低于常染色体或其他性染色体。男性 X 染色体嵌合体的罕见性与女性相比，反映了 X 染色体基因剂量对于白细胞功能的重要性。
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