Jh. Park et al., A 1-Mb BAC/PAC-Based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6, GENOMICS, 57(2), 1999, pp. 249-255
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.