A HINFI POLYMORPHISM IN THE 5' FLANKING REGION OF THE HUMAN VNTR LOCUS D1SSO

A restriction fragment length polymorphism (RFLP) characterized by the presence (HinfI+) or absence (HinfI-) of a HinfI site has been found in the 5' flanking region of the VNTR locus D1S80. RFLP-allele frequen cies were determined from 82 unrelated individuals: HinfI+ = 0.49, Hin fI- = 0.51. The RFLP/VNTR haplotype frequencies show an absolute assoc iation between the HinfI+ allele and the VNTR allele of 18 repeat unit s and an extreme association between the HinfI- allele and the VNTR al lele of 24 repeat units. The remaining VNTR alleles associate more ran domly with the 2 flanking HinfI alleles.