Distribution of tandem repeat polymorphism within minisatellite MS621 (D5S110)

The minisatellite MS621 (D5S110) is a highly polymorphic tandem repeat locus which maps to the distal region of human chromosome 5p. Major repeat unit variants at D5S110 differ not by base substitutions but by differences in the repetition of an 11 bp sequence motif found within each repeat. The two major classes of repeat unit thus contain two ('dimeric' = D-type) or three ('trimeric' = T-type) copies of this short motif. Mapping the distribution of these D- and T-type repeat units within alleles has allowed the analysis of the structural basis of allelic variation and of one de novo mutation. In contrast to previous studies of some other highly polymorphic minisatellites, this analysis provided no clear evidence for polarized variability at D5S110.