A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Genomics 1999 Apr 15;57(2):249-55
Date
04/13/1999Pubmed ID
10198164DOI
10.1006/geno.1999.5777Scopus ID
2-s2.0-0344758343 (requires institutional sign-in at Scopus site) 24 CitationsAbstract
The PKHD1 (polycystic kidney and hepatic disease 1) gene responsible for autosomal recessive polycystic kidney disease has been mapped to 6p21.1-p12 to an approximately 1-cM interval flanked by the markers D6S1714/D6S243 and D6S1024. We have developed a sequence-ready BAC/PAC-based contig map of this region as the next step for the positional cloning of PKHD1. This contig comprising 52 clones spanning approximately 1 Mb was established by content mapping of 44 BAC/PAC-end-derived STSs, 3 known genetic markers, 5 YAC-end-derived STSs, 3 random STSs, 1 previously mapped gene, and 1 EST. The average depth per marker is 6.3 clones, and the average STS density is 20 kb. The genomic clone overlaps were confirmed by restriction fragment fingerprint analysis. A high-resolution BAC/PAC-based contig map is essential to the ultimate goal of identifying the PKHD1 gene.
Author List
Park JH, Dixit MP, Onuchic LF, Wu G, Goncharuk AN, Kneitz S, Santarina LB, Hayashi T, Avner ED, Guay-Woodford L, Zerres K, Germino GG, Somlo SAuthor
Ellis D. Avner MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Chromosomes, Human, Pair 6Contig Mapping
DNA
DNA Fingerprinting
Electrophoresis, Gel, Pulsed-Field
Humans
Polycystic Kidney, Autosomal Recessive
Sequence Tagged Sites
