Hori T, Tsuji S, Yamauchi M
Nihon Rinsho. 1999 Apr;57(4):771-7.
Dynamic mutation, the mechanism of allelic expansion of the heritable unstable triplet repeat DNA sequences, has been the subject of intense investigation since its discovery in 1991 as the molecular basis for fragile X syndrome. The fundamental distinction between dynamic and other forms of mutation is that dynamic mutation is a process rather than a single event. The process involves a relationship between the copy number of perfect repeat DNA sequence and its instability which accounts for the anticipation seen in families carrying a dynamic mutation disease. Recently, dynamic mutation due to allelic expansion of minisatellite repeats has also been demonstrated as either the fragile sites and a genetic disease. In this minireview, dynamic mutations associated with chromosomal fragile sites and their cytogenetics are overviewed.
动态突变是可遗传的不稳定三联体重复DNA序列等位基因扩增的机制，自1991年作为脆性X综合征的分子基础被发现以来，一直是深入研究的主题。动态突变与其他形式突变的根本区别在于，动态突变是一个过程而非单个事件。该过程涉及完美重复DNA序列的拷贝数与其不稳定性之间的关系，这解释了携带动态突变疾病的家族中出现的遗传早现现象。最近，由于微卫星重复序列的等位基因扩增导致的动态突变也已被证明与脆性位点和一种遗传病有关。在这篇微型综述中，将概述与染色体脆性位点相关的动态突变及其细胞遗传学。
