Sajantila A, Lukka M, Syvänen A C
Department of Forensic Medicine, University of Helsinki, Finland.
Eur J Hum Genet. 1999 Feb-Mar;7(2):263-6. doi: 10.1038/sj.ejhg.5200257.
We have analysed close to 30,000 human germline transmission events at five microsatellite loci (D3S1359, HumTH01, HumvWA, HumTPO and HumFES) and four minisatellite loci (D1S80, ApoB, Col2A1 and D17S30). At these loci the mutation rates are similar at the microsatellite and the minisatellite loci, varying from 0.2 x 10(-3) to < 3.3 x 10(-3) and from 0.5 x 10(-3) to 1.5 x 10(-3), respectively. Interestingly, paternal mutations appeared to be dominant at the microsatellite loci, whilst maternal mutations are dominant at minisatellite loci. Based on our data, no unequivocal support for a strict strand-slippage mutation mechanism (gain or loss of a single repeat) was found, although the vast majority of the mutational events were small gains or losses of one to three repeats, and only few unequivocal large gains or losses were observed.
我们分析了五个微卫星位点（D3S1359、HumTH01、HumvWA、HumTPO和HumFES）以及四个小卫星位点（D1S80、ApoB、Col2A1和D17S30）近30,000个人类种系传递事件。在这些位点，微卫星和小卫星位点的突变率相似，分别从0.2×10⁻³到<3.3×10⁻³以及从0.5×10⁻³到1.5×10⁻³不等。有趣的是，父系突变在微卫星位点似乎占主导，而母系突变在小卫星位点占主导。基于我们的数据，虽然绝大多数突变事件是一到三个重复序列的小增加或减少，并且仅观察到少数明确的大增加或减少，但未发现对严格的链滑动突变机制（单个重复序列的增加或减少）的明确支持。
