INFORMATIVE GENETIC POLYMORPHIC MARKERS WITHIN THE CENTROMERIC REGIONS OF HUMAN-CHROMOSOME-17 (D17S2205) AND HUMAN-CHROMOSOME-11 (D11S4975)

We have taken advantage of the presence of retrotransposed L1 elements within the centromeric alphoid sequences of the human genome to chara cterize polymorphic markers at the centromeres of human chromosomes 17 and 11 (D17S2205 and D11S4975, respectively). They correspond to micr osatellites found at the 3' ends of L1 elements inserted within the al pha satellite sequences of the two chromosomes. They were detected aft er PCR by direct analysis in sequencing gels. Eight and five alleles, respectively, were found with heterozygosities of 0.67 and 0.68. They were converted into STSs by designing primers specific for each. D17S2 205 and D11S4975 can be used as genuine anchor-informative genetic poi nts for chromosomes 17 and 11. Both markers have been placed on the av ailable genetic maps of their centromeric regions. The alphoid domain within which D17S2205 is embedded is ancestral to the canonical ones o n chromosome 17 that exhibit several haplotypes in present-day human p opulations. (C) 1998 Academic Press.