Minisatellite DNA Markers in Population Studies

The discovery of an anonymous multiallelic locus in 1980 demonstrated for the first time that the human DNA contains hypervariable regions (Wyman & White, 1980). Eight alleles of a polymorphic locus that was not associated with any known gene were identified during the blot hybridization of total human genomic DNA treated with the restrictase EcoRI with a human DNA fragment (16 tbp in length) isolated from a phage genomic library. The multiallelic nature of the polymorphism at this locus did not stem from a variation in restriction sites; rather, it originated from a variable number of tandem repeats in the short core DNA sequence. Later, other similar polymorphic sites were detected near the 5 end of the insulin gene (Bell et al., 1982), in the Harvey ras oncogene (Capon et al., 1983), in the globin pseudogene (Proudfoot et al., 1982), and within the -globin cluster (Weller et al., 1984). In 1985, Jeffreys et al. published the results of their research, in which they described a fourfold repeat of 33 nucleotides in one of the introns of the human myoglobin gene (Jeffreys et al., 1985). These polymorphic regions consisted of tandem repeats of a short sequence (11–60 bp) and were termed variable number tandem repeats (VNTRs) (Kendrew & Lawrence, 1994).