COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia …
DS Greenspan, H Northrup, KS Au, KA McAllister… - Genomics, 1995 - Elsevier
DS Greenspan, H Northrup, KS Au, KA McAllister, CA Francomano, RJ Wenstrup…
Genomics, 1995•ElsevierCOL5A1, 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 …
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 …
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.
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