title: VNTR alleles associated with the alpha-globin locus are haplotype and population related.
abstract: The human alpha-globin complex contains several polymorphic restriction-enzyme sites (i.e., RFLPs) linked to form haplotypes and is flanked by two hypervariable VNTR loci, the 5' hypervariable region (HVR) and the more highly polymorphic 3'HVR. Using a combination of RFLP analysis and PCR, we have characterized the 5'HVR and 3'HVR alleles associated with the alpha-globin haplotypes of 133 chromosomes, and we here show that specific alpha-globin haplotypes are each associated with discrete subsets of the alleles observed at these two VNTR loci. This statistically highly significant association is observed over a region spanning approximately 100 kb. With the exception of closely related haplotypes, different haplotypes do not share identically sized 3'HVR alleles. Earlier studies have shown that alpha-globin haplotype distributions differ between populations; our current findings also reveal extensive population substructure in the repertoire of alpha-globin VNTRs. If similar features are characteristic of other VNTR loci, this will have important implications for forensic and anthropological studies.
authors.affiliation: Institute of Molecular Medicine, University of Oxford, England.
authors.forename: J J
authors.initials: JJ
authors.lastname: Martinson
authors.forename: A J
authors.initials: AJ
authors.lastname: Boyce
authors.forename: J B
authors.initials: JB
authors.lastname: Clegg
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D016384:Consensus Sequence; D017931:DNA Primers; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008542:Melanesia; D008969:Molecular Sequence Data; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011114:Polynesia; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers; D005914:Globins