微卫星不稳定性的生物学意义及其应用前景

微卫星为遍布于人类基因组中的简单重复序列。在人群中,它们呈现高度多态性,并且稳定遗传。微卫星的高度多态性是微卫星不稳定性的表现,它与错配修复基因的缺陷有关。微卫星不稳定性已广泛应用于肿瘤学的研究,并依此提出了肿瘤发生的“增变基因”途径。

Microsatellite instability: a potential tool for the study of life sciences

Microsatellites are simply repeated nucleotide sequences scattered throughout the human genome. They are highly polymorphic among human population and inherited in a stable manner. The microsatellite instability (MI) is highly polymorphic, which is associated with the defects in DNA mismatch repair genes. MI has been widely used by scientists to study the tumorigenesis. On the basis of their findings, a "mutator that mutates the other mutator" model for tumorigenesis has been proposed. MI is also a potential tool for the study of genetics, aging and other life sciences.