The first comprehensive genetic map of human chromosomes was based on 400 restriction fragment length polymorphisms (RFLPs), which are variations in DNA sequence that can be observed by digesting DNA with restriction enzymes. A genetic map contains landmarks - like RFLPs - that occur in various forms. Tracking which variants are inherited in different people can be used to locate genes responsible for diseases.
Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T.P., Bowden, D.W., Smith, D.R., Lander, E.S., et al. A genetic linkage map of the human genome. Cell, 51 (2): 319-37. 1987. [PubMed]
Abstract: We report the construction of a linkage map of the human genome, based on the pattern of inheritance of 403 polymorphic loci, including 393 RFLPs, in a panel of DNAs from 21 three-generation families. By a combination of mathematical linkage analysis and physical localization of selected clones, it was possible to arrange these loci into linkage groups representing 23 human chromosomes. We estimate that the linkage map is detectably linked to at least 95% of the DNA in the human genome.
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Last Reviewed: April 26, 2013