Loughlin J, Irven C, Fergusson C, Sykes B
University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital.
Br J Rheumatol. 1994 Dec;33(12):1103-6. doi: 10.1093/rheumatology/33.12.1103.
Generalized OA (GOA) is a well-characterized subset of primary OA which is strongly associated with the occurrence of Heberden's nodes. Using gene-specific highly polymorphic markers and affected sib pair (ASP) analyses, we have investigated genetic linkage between GOA and three cartilage matrix genes: COL2A1 which encodes type II collagen; CRTL1 which encodes the cartilage link protein and CRTM which encodes the cartilage matrix protein. The analyses showed no linkage between GOA and the three genes in the 38 sib pairs examined. Since we examined a relatively modest number of sib pairs, our results can only exclude COL2A1, CRTL1 and CRTM as major susceptibility loci for GOA.
全身性骨关节炎（GOA）是原发性骨关节炎中一个特征明确的子集，与赫伯登结节的出现密切相关。我们使用基因特异性高多态性标记和受累同胞对（ASP）分析，研究了GOA与三个软骨基质基因之间的遗传连锁关系：编码II型胶原蛋白的COL2A1；编码软骨连接蛋白的CRTL1和编码软骨基质蛋白的CRTM。分析显示，在所检测的38对同胞对中，GOA与这三个基因之间没有连锁关系。由于我们检测的同胞对数量相对较少，我们的结果只能排除COL2A1、CRTL1和CRTM作为GOA的主要易感基因座。
