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

Daniel S. Greenspan, Hope Northrup, Kit Sing Au, Kimberly A. McAllister, Clair Ann Francomano, Richard J. Wenstrup, Douglas A. Marchuk, David J. Kwiatkowski

Research output: Contribution to journalArticle


COL5A1, the gene for the α1 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.

Original languageEnglish (US)
Pages (from-to)737-739
Number of pages3
Issue number3
Publication statusPublished - Feb 10 1995


ASJC Scopus subject areas

  • Genetics

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