Abstract

Great progress is being made in the elucidation of disease genes, especially in hereditary skin diseases, by genome analysis, including functional and positional cloning. In more than fifty skin disorders, not only the chromosomal localizations, but also the abnormalities of the disease genes have been identified. As a resource for candidate genes, the expressed gene catalogues generated by large scale cDNA sequencing analysis are available. The isolation of disease genes may not directly serve to provide any therapeutic aids for the corresponding diseases at present, but the discovery of disease genes is expected to revolutionize our understanding of the pathogenesis and diagnosis of these skin disorders.

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