Tautz D
Zoologisches Institut, Universität München, Germany.
Curr Opin Genet Dev. 1994 Dec;4(6):832-7. doi: 10.1016/0959-437x(94)90067-1.
Simple sequences (or microsatellites) are stretches of monotonous repetitions of short (1-5bp) nucleotide motifs that are distributed across the whole genome in eukaryotes. They are probably generated by slippage during replication and their primary mutation rate seems to be controlled predominantly by the efficiency of the mismatch repair system. Although most mutations in simple sequence loci appear to be neutral, some mutations in particular stretches have been implicated as having a role in human genetic diseases.
简单序列(或微卫星)是短(1-5个碱基对)核苷酸基序的单调重复片段,分布于真核生物的整个基因组中。它们可能是在复制过程中通过滑动产生的,其主要突变率似乎主要由错配修复系统的效率控制。尽管简单序列位点的大多数突变似乎是中性的,但特定片段中的一些突变已被认为与人类遗传疾病有关。