The human genome can be mapped in a number of ways. The familiar and reproducible banding pattern of the chromosomes constitutes one kind of physical map, and in many cases, the positions of genes or other heritable markers have been localized to one band or another. More useful are genetic linkage maps, on which the relative positions of markers have been established by studying how frequently the markers are separated during a natural process of chromosomal shuffling called genetic recombination. The cryptically coded ordered markers near the top of this figure are physically mapped to specific regions of chromosome 19; some of them also constitute a low-resolution genetic linkage map. (Hundreds of genes and other markers have been mapped on chromosome 19; only a few are indicated here.) A higher-resolution physical map might describe, as shown here, the cutting sites (the short vertical lines) for certain DNA-cleaving enzymes. The overlapping fragments that allow such a map to be constructed are then the resources for obtaining the ultimate physical map, the base-pair sequence for the human genome. At the bottom of this figure is an example of output from an automatic sequencing machine.
Credit or Source: Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science. science.energy.gov/ber/
Human Genome Program, U.S. Department of Energy, Human Genome Program Report, 1997. (website)