positional cloning

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a strategy for the identification of a gene of unknown function responsible for a genetic disease. The phenotype is correlated with a chromosomal site, the DNA of that region is cloned and compared with that in normal individuals. If a single gene is involved, it is sequenced, and the protein structure deduced. An example is the discovery of the genetic basis of cystic fibrosis and the identification of the cystic fibrosis transmembrane conductance regulator (CFTR).

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