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

Jong Hoon Park, Mehul P. Dixit, Luiz F. Onuchic, Guanqing Wu, Andrey N. Goncharuk, Susanne Kneitz, Lorenzo B. Santarina, Tomohito Hayashi, Ellis D. Avner, Lisa Guay-Woodford, Klaus Zerres, Gregory G. Germino, Stefan Somlo

Research output: Contribution to journalArticlepeer-review

Abstract

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 ~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 ~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.

Original languageEnglish (US)
Pages (from-to)249-255
Number of pages7
JournalGenomics
Volume57
Issue number2
DOIs
StatePublished - Apr 15 1999

ASJC Scopus subject areas

  • Genetics

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