Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

R. S. Kandt, J. L. Haines, M. Smith, H. Northrup, R. J.M. Gardner, M. P. Short, K. Dumars, E. S. Roach, S. Steingold, S. Wall, S. H. Blanton, P. Flodman, D. J. Kwiatkowski, A. Jewell, J. L. Weber, A. D. Roses, M. A. Pericak-Vance

Research output: Contribution to journalArticle

283 Scopus citations

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. Some TSC has been linked to chromosome 9, additional TSC genes on chromosomes 11 and 12 have been proposed, but the majority of TSC families remain unlinked. Using TSC families in which data had excluded linkage to chromosome 9, we failed to detect linkage with loci on chromosomes 11,12 and others. One marker examined was D16S283, the closest locus on the proximal side of the polycystic kidney disease type 1 (PKD1) gene. Linkage between TSC and D16S283 demonstrated a lod score of 9.50 at ⊖̂ = 0.02 with one family independently presenting a lod score of 4.44 at ⊖ = 0.05. These data reveal an important TSC locus near the region of PKD1 on chromosome 16p13.

Original languageEnglish (US)
Pages (from-to)37-41
Number of pages5
JournalNature genetics
Volume2
Issue number1
DOIs
StatePublished - Sep 1992

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease'. Together they form a unique fingerprint.

  • Cite this

    Kandt, R. S., Haines, J. L., Smith, M., Northrup, H., Gardner, R. J. M., Short, M. P., Dumars, K., Roach, E. S., Steingold, S., Wall, S., Blanton, S. H., Flodman, P., Kwiatkowski, D. J., Jewell, A., Weber, J. L., Roses, A. D., & Pericak-Vance, M. A. (1992). Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nature genetics, 2(1), 37-41. https://doi.org/10.1038/ng0992-37