COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.

Journal Article (Journal Article)

COL5A1, the gene for the alpha 1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype. We have employed 3'-untranslated region RFLPs to exclude COL5A1 as a candidate gene in families with tuberous sclerosis 1, Ehlers-Danlos syndrome type II, and nail-patella syndrome. In addition, we describe a polymorphic simple sequence repeat (SSR) within a COL5A1 intron. This SSR is used to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) and to add COL5A1 to the existing map of "index" markers of chromosome 9 by evaluation of the COL5A1 locus on the CEPH 40-family reference pedigree set. This genetic mapping places COL5A1 between markers D9S66 and D9S67.

Full Text

Duke Authors

Cited Authors

  • Greenspan, DS; Northrup, H; Au, KS; McAllister, KA; Francomano, CA; Wenstrup, RJ; Marchuk, DA; Kwiatkowski, DJ

Published Date

  • February 10, 1995

Published In

Volume / Issue

  • 25 / 3

Start / End Page

  • 737 - 739

PubMed ID

  • 7759113

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1016/0888-7543(95)80021-d


  • eng

Conference Location

  • United States