Baldwin C T, Farrer L A, Adair R, Dharmavaram R, Jimenez S, Anderson L
Center for Human Genetics, Boston University School of Medicine, MA 02118.
Am J Hum Genet. 1995 Mar;56(3):692-7.
Calcium pyrophosphate-deposition disease (CPDD), also called "chondrocalcinosis" or "pseudogout," is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of these crystals in joint tissue is a common finding in the elderly, and, in this population, there is a poor correlation with joint pain. In contrast, early-onset CPDD has been described in several large families in which the disease progresses to severe degenerative osteoarthritis (OA). In these families, an autosomal dominant mode of inheritance is observed, with an age at onset between the 2d and 5th decades of life. In this report, we describe a large New England family with early-onset CPDD and severe degenerative OA. We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family.
焦磷酸钙沉积病（CPDD），也称为“软骨钙质沉着症”或“假性痛风”，是一种以关节组织中含钙晶体沉积为特征的疾病，可导致类似关节炎的症状。关节组织中这些晶体的存在在老年人中很常见，而且在这一人群中，与关节疼痛的相关性较差。相比之下，早发性CPDD已在几个大家族中被描述，在这些家族中，疾病会发展为严重的退行性骨关节炎（OA）。在这些家族中，观察到常染色体显性遗传模式，发病年龄在人生的第二个和第五个十年之间。在本报告中，我们描述了一个患有早发性CPDD和严重退行性OA的新英格兰大家族。我们发现该家族中的疾病与8号染色体q臂之间存在遗传连锁，多点对数计分法得分为4.06。这些结果表明，该位置的一个缺陷基因导致了这个家族的疾病。
