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软骨钙质沉着症基因定位于5号染色体短臂。

Localisation of a gene for chondrocalcinosis to chromosome 5p.

作者信息

Hughes A E, McGibbon D, Woodward E, Dixey J, Doherty M

机构信息

Department of Medical Genetics, Queen's University of Belfast, UK.

出版信息

Hum Mol Genet. 1995 Jul;4(7):1225-8. doi: 10.1093/hmg/4.7.1225.

Abstract

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.

摘要

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。

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