Use of denaturing HPLC to map human and murine genes and to validate single-nucleotide polymorphisms

Linkage mapping has been extensively applied ill the murine and human genom es. It remains a powerful approach to mapping genes and identifying genetic variants. As genome efforts identify large numbers of single-nucleotide po lymorphisms, it will be critical to validate these polymorphisms and confir m their gene assignment and chromosomal location. The presence of pseudogen es can confuse such efforts. We have used denaturing HPLC to identify polym orphisms in human genes and to genotype individuals in selected CEPH pedigr ees. The same approach has been applied to the mapping of murine genes in i nterspecies backcross animals. This strategy is rapid, accurate and superio r in several respects to other technologies.