An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

Xose M. Lens, Luiz F. Onuchic, Guanqing Wu, Tomohito Hayashi, Martin Daoust, Toshio Mochizuki, Lorenzo B. Santarina, John M. Stockwin, Gabi Mücher, Jutta Becker, William E. Sweeny, Ellis D. Avner, Lisa Guay-Woodford, Klaus Zerres, Stefan Somlo, Gregory G. Germino

Research output: Contribution to journalArticle

Abstract

Autosomal recessive polycystic kidney disease is one of the most common hereditary renal cystic diseases in children. Genetic studies have recently assigned the only known locus for this disorder, PKHD1, to chromosome 6p21- p12. We have generated a YAC contig that spans ~5 cM of this region, defined by the markers D6S1253-D6S295, and have mapped 43 sequence-tagged sites (STS) within this interval. This set includes 20 novel STSs, which define 12 unique positions in the region, and three ESTs. A minimal set of two YACs spans the segment D6S465-D6S466, which contains PKHD1, and estimates of their sizes based on information in public databases suggest that the size of the critical region is

Original languageEnglish (US)
Pages (from-to)463-466
Number of pages4
JournalGenomics
Volume41
Issue number3
DOIs
StatePublished - May 1 1997

ASJC Scopus subject areas

  • Genetics

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    Lens, X. M., Onuchic, L. F., Wu, G., Hayashi, T., Daoust, M., Mochizuki, T., Santarina, L. B., Stockwin, J. M., Mücher, G., Becker, J., Sweeny, W. E., Avner, E. D., Guay-Woodford, L., Zerres, K., Somlo, S., & Germino, G. G. (1997). An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics, 41(3), 463-466. https://doi.org/10.1006/geno.1997.4671