ABSTRACT
The methods used to define the CF gene form the basis for similar gene hunts for the several thousand other human disease-related genes where linked markers provide the only starting point. This chapter describes these current methods with reference to their application to a number of gene searches. It also describes the approaches offered by the human genome initiative, pointing out the distinct advantages of a “genome approach” to human genetic disease. It is clear from the state of the reverse genetics field that the identification of a linked marker has become fairly routine as additional highly informative markers are localized to genomic regions. The genome project has already demonstrated its capacity to drive the technology necessary for disease gene identification through its support. Perhaps the only remnant of the current methods utilized for genetic disease analysis that will be found in 10 or 15 years will be the collection of pedigrees and ascertainment of phenotype.
