General strategies for identifying Human Disease Genes

Using information about the function of unidentified disease genes in order to identify the gene. Essentially two approaches are used those which depends on the availability of purified genes product, ands those for which a functional gene assay is required. Some information about the function of the gene is exploited to isolate a gene clone. If the gene product is known partial purification of the product can permit various strategies for identifying the underlying gene. Alternatively a functional assay can be used to screen for the gene. This approach has been useful in only a few cases.