常染色体嵌合变异的流行病学分布及其影响因素研究进展

人类体细胞突变的发生和积累，又称体细胞嵌合现象。其中，嵌合染色体变异（mCA）对基因组完整性的影响最为显著，被视为人类衰老的表型之一。随着全球人口老龄化进程的加速，了解mCA的人群流行病学分布及其影响因素，有助于探索人体衰老进程中“基因组失稳”及其相关生物学机制，为人类年龄相关疾病的一级预防提供科学依据。本文旨在汇总既往大规模人群研究结果，对外周血常染色体mCA的人群流行病学分布及其影响因素进行综述。

Research progress on the epidemiological distribution and influencing factors of autosomal mosaic chromosomal alteration

Somatic mosaicism is defined as the occurrence and accumulation of somatic mutations in humans, and mosaic chromosomal alterations (mCA) are recognized as one of the aging phenotypes due to their impact on genome integrity. With the coming acceleration of global population aging, understanding the prevalence and influencing factors of mCA will help to explore the "genomic instability" of human aging and its biological mechanisms and provide the scientific basis for the primary prevention of age-related diseases. This review aims to summarize the epidemiological distribution and influencing factors of autosomal mCA in peripheral blood based on previous large-scale population-based studies.