Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16

G. G. Germino, N. J. Barton, J. Lamb, D. R. Higgs, P. Harris, G. H. Xiao, G. Scherer, Y. Nakamura, S. T. Reeders

Research output: Contribution to journalArticle

Abstract

The major site for mutations leading to autosomal dominant polycystic kidney disease (ADPKD) is at the PKD1 locus, previously mapped to 16p13. Three additional probes have now been mapped within an existing array of genetic markers flanking this locus. One of these, CMM65b (D16S84), shows no recombination with PKD1 in 201 informative meioses. The others, Fr3-42 (D16S21) and EKMDA2 (D16S83), are shown to be the closest telomeric flanking markers. Somatic cell hybrids containing derivative chromosome 16s were used to construct a physical map of the region. Cosmid overlap cloning of the D16S84 region allowed a t(16;1) translocation breakpoint to be mapped at the molecular level, orientating the extended D16S84 locus with respect to the chromosome. The new markers and physical map described here provide an improved framework for attempts to clone the PKD1 region and to identify polycystic kidney disease mutations.

Original languageEnglish (US)
Pages (from-to)925-933
Number of pages9
JournalAmerican Journal of Human Genetics
Volume46
Issue number5
Publication statusPublished - May 1990
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics

Cite this

Germino, G. G., Barton, N. J., Lamb, J., Higgs, D. R., Harris, P., Xiao, G. H., ... Reeders, S. T. (1990). Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. American Journal of Human Genetics, 46(5), 925-933.