DIRECT ISOLATION OF HUMAN BRCA2 GENE BY TRANSFORMATION-ASSOCIATED RECOMBINATION IN YEAST

Mutant forms of the BRCA2 gene contribute significantly to hereditary breast cancer. Isolation of the normal and mutant forms of the BRCA2 g ene with its natural promoter would greatly facilitate analysis of the gene and its contribution to breast cancer. We have accomplished the direct isolation of the 90-kb gene from total human DNA by transformat ion-associated recombination in yeast using a small amount of 5' and 3 ' BRCA2 sequence information. Because the entire isolation procedure o f a single chromosomal gene could be accomplished in approximately 2 w eeks, the transformation-associated recombination cloning approach is readily applicable to studies of chromosome alterations and human gene tic diseases.