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

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. (C) 1995 Academic Press, Inc.