Clonal mosaicism arises when a postzygotic mutational event is detectable in subpopulations of cells as an alternative genotype while not present in the germline genome. Although described in a subset of pediatric disorders, new genomic technologies have detected higher than anticipated frequencies of clonal mosaicism in adult population studies, stimulating investigation as to how clonal mosaicism could contribute to chronic human diseases, such as cancer, diabetes and neurodegenerative disorders. It has also been postulated to be an important mechanism for functional cellular diversity, including the brain. Early studies have characterized the spectrum of detectable mosaic alterations and have begun to investigate whether detectable mosaicism could be important as an overall biomarker for risk or in the case of hematologic cancers, identification of preleukemic clones.

中文翻译：

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基因组老化，克隆镶嵌和慢性疾病。

当后代突变事件在细胞亚群中作为替代基因型被检测到，而在种系基因组中却不存在时，就会出现克隆镶嵌现象。尽管在一部分儿科疾病中进行了描述，但新的基因组技术已在成人人群研究中检测到了比预期的更高的克隆镶嵌率，这刺激了关于克隆镶嵌法如何导致慢性人类疾病（如癌症，糖尿病和神经退行性疾病）的研究。还假定它是包括大脑在内的功能性细胞多样性的重要机制。早期的研究已经对可检测到的镶嵌变化的频谱进行了表征，并开始研究可检测到的镶嵌变化是否可能作为风险的整体生物标志物或在血液系统癌症中很重要，