Meulenbelt I, Bijkerk C, Breedveld F C, Slagboom P E
Gaubius Laboratory, Department of Vascular and Connective Tissue Research, Leiden, The Netherlands.
J Med Genet. 1997 Dec;34(12):1024-7. doi: 10.1136/jmg.34.12.1024.
The role of various gene loci was investigated in a family in which familial osteoarthritis (FOA), with onset at an early age, is transmitted as an autosomal dominant mendelian trait. The absence of clinical and radiographic signs of dysplasia and calcium pyrophosphate deposition disease (CPDD) indicates that the basic disease process in this family is osteoarthritis (OA). Genetic linkage analysis of 14 candidate genes resulted in the exclusion of 10 important genes (COL2A1, COL9A1, COL9A2, COL11A1, COL11A2, COMP, the CPDD region, CRTL-1, CRTM, and MMP3). Other relevant genes were not informative in this family. The candidate loci previously identified in FOA and heritable skeletal disorders associated with OA are clearly not involved in the development of the primary FOA phenotype in the family investigated, indicating genetic heterogeneity.
在一个家族中对各种基因位点的作用进行了研究，该家族中早发型家族性骨关节炎（FOA）作为常染色体显性孟德尔性状遗传。不存在发育异常和焦磷酸钙沉积病（CPDD）的临床及影像学体征，表明该家族的基本疾病过程是骨关节炎（OA）。对14个候选基因进行基因连锁分析，排除了10个重要基因（COL2A1、COL9A1、COL9A2、COL11A1、COL11A2、COMP、CPDD区域、CRTL - 1、CRTM和MMP3）。其他相关基因在这个家族中未提供有用信息。先前在FOA以及与OA相关的遗传性骨骼疾病中确定的候选位点显然不参与所研究家族中主要FOA表型的发生，这表明存在遗传异质性。
