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

Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 9
  • Collagen / genetics*
  • DNA
  • Ehlers-Danlos Syndrome / genetics*
  • Humans
  • Molecular Sequence Data
  • Nail-Patella Syndrome / genetics*
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Tuberous Sclerosis / genetics*

Substances

  • Collagen
  • DNA