title: 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.
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Wisconsin Medical School, Madison 53706, USA.
authors.forename: D S
authors.initials: DS
authors.lastname: Greenspan
authors.forename: H
authors.initials: H
authors.lastname: Northrup
authors.forename: K S
authors.initials: KS
authors.lastname: Au
authors.forename: K A
authors.initials: KA
authors.lastname: McAllister
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
authors.forename: R J
authors.initials: RJ
authors.lastname: Wenstrup
authors.forename: D A
authors.initials: DA
authors.lastname: Marchuk
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
mesh_terms: D001483:Base Sequence; D002899:Chromosomes, Human, Pair 9; D003094:Collagen / Q000235:genetics*; D004247:DNA; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009261:Nail-Patella Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics*
chemical_list: D003094:Collagen; D004247:DNA