A 19-allele polymorphic marker within the centromere of human chromosome 5.

We have detected and characterized a highly polymorphic marker that maps to the centromere of human chromosome 5. The localization was established by both linkage analysis within the CEPH reference families and fluorescence in situ hybridization. The marker consists of a sequence of five nucleotides, (CCTTT)n. Nineteen alleles have been detected in 46 unrelated individuals from 12 CEPH families, with a calculated heterozygosity of 0.91. This is the first truly centromeric, highly polymorphic genetic marker described so far.