A 1-Mb BAC/PAC-Based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6

The PKHD1 (polycystic kidney and hepatic disease 1) gene responsible for au tosomal recessive polycystic kidney disease has been mapped to 6p21.1-p12 t o an similar to 1-cM interval flanked by the markers D6S1714/D6S243 and D6S 1024. We have developed a sequence-ready BAG/PAC-based contig map of this r egion as the next step for the positional cloning of PKHD1. This contig com prising 52 clones spanning similar to 1 Mb was established by content mappi ng of 44 BAG/PAC-end-derived STSs, 3 known genetic markers, 5 YAC-end-deriv ed STSs, 3 random STSs, 1 previously mapped gene, and 1 EST. The average de pth per marker is 6.3 clones, and the average STS density is 20 kb. The gen omic clone overlaps were confirmed by restriction fragment fingerprint anal ysis. A high-resolution BAC/PAC-based contig map is essential to the ultima te goal of identifying the PKHD1 gene. (C) 1999 Academic Press.