Greenspan D S, Northrup H, Au K S, McAllister K A, Francomano C A, Wenstrup R J, Marchuk D A, Kwiatkowski D J
Department of Pathology and Laboratory Medicine, University of Wisconsin Medical School, Madison 53706, USA.
Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d.
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.
COL5A1是V型胶原α1链的基因，基于染色体定位和/或疾病表型，它被认为是某些疾病的候选基因。我们利用3'非翻译区限制性片段长度多态性（RFLP），在结节性硬化症1型、II型埃勒斯-当洛综合征和指甲-髌骨综合征家族中排除COL5A1作为候选基因。此外，我们描述了COL5A1一个内含子内的多态性简单序列重复（SSR）。这个SSR被用于在遗传性出血性毛细血管扩张症（奥斯勒-伦杜-韦伯病）中排除COL5A1作为候选基因，并通过对CEPH 40家族参考系谱集中COL5A1位点的评估，将COL5A1添加到9号染色体“索引”标记的现有图谱中。这种基因定位将COL5A1置于标记D9S66和D9S67之间。
