Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Genes (Basel). 2024 Sep 24;15(10):1240. doi: 10.3390/genes15101240.
Genetic mosaicism is defined as the presence of two or more cell lineages with different genotypes arising from a single zygote. Mosaicism has been implicated in hundreds of genetic diseases with diverse genetic etiologies affecting every organ system. Mosaic genetic disease (MDG) is a spectrum that, on the extreme ends, enables survival from genetic severe disorders that would be lethal in a non-mosaic form. On the milder end of the spectrum, mosaicism can result in little if any phenotypic effects but increases the risk of transmitting a pathogenic genotype. In the middle of the spectrum, mosaicism has been implicated in reducing the phenotypic severity of genetic disease. In this review will describe the spectrum of mosaic genetic disease whilst discussing the status of the detection and prevalence of mosaic genetic disease.
遗传嵌合体是指由单个受精卵产生的具有不同基因型的两个或多个细胞系。嵌合体与数百种遗传疾病有关，这些疾病具有不同的遗传病因，影响每个器官系统。嵌合遗传疾病（MDG）是一个谱系，在极端情况下，它可以使遗传严重疾病的生存成为可能，如果不是嵌合体形式，这些疾病是致命的。在谱系的较温和的一端，嵌合体可能导致几乎没有表型效应，但会增加传递致病基因型的风险。在谱系的中间，嵌合体与降低遗传疾病的表型严重程度有关。在这篇综述中，我们将描述嵌合遗传疾病的谱系，同时讨论嵌合遗传疾病的检测和流行情况。
