摘要嵌合染色体变异（mCA）指体细胞突变大规模发生在染色体上使体内有多种核型细胞系的现象，被视为人类衰老表型之一。mCA与血液系统癌症、心脑血管疾病等多种慢性病存在关联，但mCA自身的遗传基础（遗传易感位点等）尚在探索。本文对基于大型人群的常染色体mCA、性染色体mCA［Y染色体嵌合缺失（mLOY）和X染色体嵌合缺失（mLOX）］的全基因组关联研究进行综述。其中，常染色体mCA研究发现的遗传易感位点多与拷贝数中性杂合性缺失类型关联；性染色体mCA的研究多聚焦于嵌合缺失突变，mLOY遗传易感位点数目较多（最多达156个），而mLOX遗传易感位点数目则较少。

abstractsMosaic chromosomal alteration (mCA) is referred to as large-scale somatic mutations on chromosomes, which results in diverse karyotypes in body. The mCA is regarded as one of the phenotypes of aging. Studies have revealed its associations with many chronic diseases such as hematopoietic cancers and cardiovascular diseases, but its genetic basis (e.g. genetic susceptibility variants) is still under-investigated. This paper reviews GWAS studies for mCA on autosomal chromosomes and sex chromosomes [mosaic loss of the Y chromosome (mLOY) and mosaic loss of the X chromosome (mLOX)] based on large population, respectively. Most of the genetic susceptibility loci found in studies for autosomal mCA were associated with copy-neutral loss of heterozygosity. The study of sex chromosome mCA focused on mosaic loss mutations. The number of genetic susceptibility loci for mLOY was high (up to 156), but it was relatively less for mLOX.