Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene.

Mutation detection in the PKD1 gene proved to be difficult because two-thirds of the gene is reiterated several times on chromosome 16. Long-range PCR has been used previously to overcome this limitation, but due to a 2.5-kb polypyrimidine tract in intron 21, the screening capacity of the PKD1 gene using this technique was hindered. Here we report the measures that we have used to overcome this limitation.