Abstract
AbstractIn the last decade the study of human genetic variation has made a quantum leap from the analysis of protein and antigen intermediaries to the investigation of DNA itself.1 The DNA double helix codes genetic information as a sequence of four different nucleotides: adenine (A), guanine (G), cytosine (C), and thymine (T). Nucleotides are nitrogenous bases that bind the complementary strands of the double helix, giving rise to the use of base pairs (bp) as a unit of DNA length. So far so good. Within the human genome there are DNA sequences that do not code for proteins and that consist of short runs of nucleotides, say GTGGACAGG, repeated in tandem hundreds, or even thousands of times. This particular sequence, known as MS1 for minisatellite 1, is found on human chromosome 1 at a locus called D1S7. Although it is old news that there are a lot of repetitive DNAs in the human genome, it is new and very interesting to find that many repetitive DNA loci have arrays of different numbers of repeats in different individuals. These loci are referred to as VNTRs, shorthand for “variable numbers of tandem repeats” or, more flippantly for “very nasty types of repeat.” The finding of hundreds of VNTR loci distributed across all chromosomes exposes a richness of genetic diversity for anthropologists studying human evolutionary history.
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