Hughes A E, McGibbon D, Woodward E, Dixey J, Doherty M
Department of Medical Genetics, Queen's University of Belfast, UK.
Hum Mol Genet. 1995 Jul;4(7):1225-8. doi: 10.1093/hmg/4.7.1225.
Chondrocalcinosis is a common disorder which may associate with acute and chronic arthritis. A familial form, inherited as an autosomal dominant trait, has been mapped in a large family in which affected members also suffer recurrent fits in childhood. The gene which causes this disease shows linkage with several polymorphic markers on chromosome 5p with a maximum multipoint lod score of 4.6 between D5S810 and D5S416. Mapping a locus for chondrocalcinosis will allow the heterogeneity of the disorder to be assessed and may also be relevant to understanding the aetiology of osteoarthritis with which it commonly associates.
软骨钙质沉着症是一种常见疾病,可能与急慢性关节炎相关。一种呈常染色体显性遗传的家族性形式,已在一个大家庭中定位,该家族中受影响的成员在儿童期也会反复发作抽搐。导致这种疾病的基因与5号染色体短臂上的几个多态性标记显示连锁关系,在D5S810和D5S416之间的最大多点对数优势分数为4.6。定位软骨钙质沉着症的一个基因座将有助于评估该疾病的异质性,也可能与理解它常伴发的骨关节炎的病因有关。