A HinfI polymorphism in the 5' flanking region of the human VNTR locus D1S80.

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 frequencies were determined from 82 unrelated individuals: HinfI+ = 0.49, HinfI- = 0.51. The RFLP/VNTR haplotype frequencies show an absolute association between the HinfI+ allele and the VNTR allele of 18 repeat units and an extreme association between the HinfI- allele and the VNTR allele of 24 repeat units. The remaining VNTR alleles associate more randomly with the 2 flanking HinfI alleles.