Abstract
Rapid progress in human gene mapping has achieved chromosomal and regional assignments of more than 400 genes. The combined use of somatic cell genetics and recombinant DNA technology has expanded the scope of mapping particularly for structural genes and has extended gene mapping to the fine structure level. Although this chapter deals mainly with the application of somatic cell genetics to gene mapping in the human genome, the same methodologies have been applied equally well to mapping of genes in many other mammalian species where somatic cell genetics is applicable. Using restriction fragment length polymorphisms of specific DNA markers, a conceptual framework has been established, which promises an eventual construction of a complete human linkage map. Such a complete gene map should aid in prenatal diagnosis in making more predictions that are reliable. The linkage relationships between a polymorphic DNA marker and an inherited disease can be established before the biochemical mechanism of the disease is known.
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