TY - JOUR
T1 - COL5a1
T2 - 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
AU - Greenspan, Daniel S.
AU - Northrup, Hope
AU - Au, Kit Sing
AU - McAllister, Kimberly A.
AU - Francomano, Clair A.
AU - Wenstrup, Richard J.
AU - Marchuk, Douglas A.
AU - Kwiatkowski, David J.
N1 - Funding Information:
This work was supported by National Institutes of Health Grants GM46846 (D.S.G.), PO1 HG00373 (C.A.F.), HL49171 (D.A.M.), and HG00598 (D.J.K.). D.J.K. is an Established Investigator with the American Heart Association. H.N. is the recipient of a Junior Faculty Research Award from the American Cancer Society and a research grant from the National Tuberous Sclerosis Association. K.-S.A. is the recipient of a National Tuberous Sclerosis Association Fellowship.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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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U2 - 10.1016/0888-7543(95)80021-D
DO - 10.1016/0888-7543(95)80021-D
M3 - Article
C2 - 7759113
AN - SCOPUS:0028930442
SN - 0888-7543
VL - 25
SP - 737
EP - 739
JO - Genomics
JF - Genomics
IS - 3
ER -