Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)

A. Snarey, S. Thomas, M. C. Schneider, S. E. Pound, N. Barton, A. F. Wright, S. Somlo, G. G. Germino, P. C. Harris, S. T. Reeders, A. M. Frischauf

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53 Scopus citations

Abstract

The gene for autosomal dominant polycystic kidney disease (PKD1) is located on chromosome 16p, between the flanking markers D16S84 and D16S125 (26.6prox). This region is 750 kb long and has been cloned. We have looked at the association of 10 polymorphic markers from the region, with the disease and with each other. This was done in a set of Scottish families that had previously shown association with D16S94, a marker proximal to the PKD1 region. We report significant association between two CA repeat markers and the disease but have not found evidence for a single founder haplotype in these families, indicating the presence of several mutations in this population. Our results favor a location of the PKD1 gene in the proximal part of the candidate region.

Original languageEnglish (US)
Pages (from-to)365-371
Number of pages7
JournalAmerican journal of human genetics
Volume55
Issue number2
StatePublished - 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Snarey, A., Thomas, S., Schneider, M. C., Pound, S. E., Barton, N., Wright, A. F., Somlo, S., Germino, G. G., Harris, P. C., Reeders, S. T., & Frischauf, A. M. (1994). Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). American journal of human genetics, 55(2), 365-371.