Haplotype analysis in autosomal dominant polycystic kidney disease

S. E. Pound, S. Thomas, A. Snarey, A. M. Macnicol, M. L. Watson, P. M. Pignatelli, A. M. Frischauf, P. C. Harris, A. F. Wright

Research output: Contribution to journalArticle

Abstract

Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. in addition, three unlinked (PKD2) families and two families with potential new mutation were identified.

Original languageEnglish (US)
Pages (from-to)208-212
Number of pages5
JournalJournal of medical genetics
Volume32
Issue number3
DOIs
StatePublished - Mar 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Pound, S. E., Thomas, S., Snarey, A., Macnicol, A. M., Watson, M. L., Pignatelli, P. M., Frischauf, A. M., Harris, P. C., & Wright, A. F. (1995). Haplotype analysis in autosomal dominant polycystic kidney disease. Journal of medical genetics, 32(3), 208-212. https://doi.org/10.1136/jmg.32.3.208