POPULATION GENETIC DIVERSITY IN RELATION TO MICROSATELLITE HETEROGENEITY

Nine populations (Germans, Turks, Moroccans, Ovambos, Ugandans, Chines e, Japanese, Papuans, and Australian Aborigines) were investigated usi ng six microsatellite systems (HumCD4, Hum F13B, HumFES/FPS, HumTH01, HumVWA, and D21S11), so called STRs (short tandem repeats). Allele fre quency data and sequencing results were used to compare the population genetic diversity among these populations. The genetic differences va ried depending on the STR applied. According to the systems investigat ed, we defined three categories of STR microvariation: LOMs (low micro variation systems), INMs (intermediate microvariation systems), and HI Ms (high microvariation systems). LOMs (STRs: CD4, FES, F13B, TH01) ar e characterised by a number of repeats between 5-15 and a stable repea t sequence. INMs and HIMs each showed an increasing number of repeats and additional sequence variation in the repeat motifs. The rate of ne w mutations was associated with the extent of microvariation. The reco nstruction of phylogenetic trees led to a clustering in an early split of the African populations followed by further branching of the Asian /Melanesian and the Caucasian groups. (C) 1998 Wiley-Liss, Inc.