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 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.
Sajantila
A
A
Department of Forensic Medicine, University of Helsinki, Finland. antti.sajantila@helsinki.fi
Lukka
M
M
Syvänen
A C
AC
D000483:Alleles; D018095:Germ-Line Mutation; D006801:Humans; D018895:Microsatellite Repeats