Spinner Nancy B, Conlin Laura K
Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):397-405. doi: 10.1002/ajmg.c.31421. Epub 2014 Nov 25.
With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next-generation sequencing, the importance of mosaicism for human disease is being more fully appreciated. Mosaicism can occur for any type of mutation, either at the chromosomal or DNA sequence level, and while in many cases mosaicism can modify the clinical effects of a syndrome, there are many alterations that can only occur in mosaic form as the mutation is lethal when present in every cell. Mosaicism can have a wide range of effects, from early pregnancy loss, to organ specific pathology, to modification of clinical syndromes. Recent evidence reveals that generation of mosaic alterations is associated with aging, and our ability to detect mosaic alterations sheds light on normal and pathologic changes across the lifespan.
随着诸如染色体微阵列和下一代测序等越来越灵敏的突变检测技术的引入，嵌合体在人类疾病中的重要性正得到更充分的认识。任何类型的突变都可能发生嵌合体现象，无论是在染色体水平还是DNA序列水平，而且在许多情况下，嵌合体可以改变综合征的临床效应，然而也有许多改变只能以嵌合体形式出现，因为该突变若存在于每个细胞中则是致死性的。嵌合体可以产生广泛的影响，从早期妊娠丢失到器官特异性病理改变，再到临床综合征的改变。最近的证据表明，嵌合性改变的产生与衰老有关，而且我们检测嵌合性改变的能力有助于揭示整个生命周期中的正常和病理变化。
