Experimentally observed germline mutations at human micro- and minisatellite loci

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 mut ation rates are similar at the microsatellite and the minisatellite loci, v arying from 0.2 x 10(-3) to < 3.3 x 10(-3) and from 0.5 x 10(-3) to 1.5 x 1 0(-3), respectively. Interestingly, paternal mutations appeared to be domin ant at the microsatellite loci, whilst maternal mutations are dominant at m inisatellite loci, Based on our data, no unequivocal support for a strict s trand-slippage mutation mechanism (gain or loss of a single repeat) was fou nd, 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 lo sses were observed.