| First Author | Greenspan DS | Year | 1995 |
| Journal | Genomics | Volume | 25 |
| Issue | 3 | Pages | 737-9 |
| PubMed ID | 7759113 | Mgi Jnum | J:42292 |
| Mgi Id | MGI:1095503 | Doi | 10.1016/0888-7543(95)80021-d |
| Citation | Greenspan DS, et al. (1995) 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 25(3):737-9 |
| abstractText | 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. |
