Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6

We have characterized variant centromeric regions of chromosome 6 segregating in two families. The heteromorphism, 6ph+, stains negatively with G- and Q-banding and darkly with C-banding. The variant C-band regions measure two to three times the length of their homologues. The centromeric regions of the variant chromosome 6 and its homologue are not significantly elongated by adding 5-azacytidine to culture. We determined that the amount of the alphoid centromeric repeat 308 (DZ61), which is chromosome 6 specific, is amplified two- to threefold in the genomes of individuals with the 6ph+ variants. In situ hybridization localized the increase in 308 repeats to the 6ph+ region. These results suggest an association between amplification of chromosome-specific alphoid sequences and enlargement of specific C-band regions.