2号染色体q臂上两个基因座与结节性骨关节炎的关联。
Association of two loci on chromosome 2q with nodal osteoarthritis.
作者信息
Wright G D, Hughes A E, Regan M, Doherty M
机构信息
Department of Rheumatology, Musgrave Park Hospital, Belfast, United Kingdom.
出版信息
Ann Rheum Dis. 1996 May;55(5):317-9. doi: 10.1136/ard.55.5.317.
OBJECTIVE
To search for genetic association between microsatellite marker loci and sibling pairs with nodal osteoarthritis (NOA).
METHODS
Using the affected sibling pair method of analysis, genomic DNA from 66 sib pairs with NOA was analysed for association with highly polymorphic microsatellite marker loci. The microsatellite markers were amplified using polymerase chain reaction and typed on polyacrylamide gels.
RESULTS
A significant association (p < 0.05) was identified between NOA and two loci on the short arm of chromosome 2 (2q 23-35). Candidate genes for osteoarthritis in this region include: fibronectin, a glycoprotein present in the extracellular matrix of normal cartilage; the alpha 2 chain of collagen type V, a major constituent of bone; and the interleukin-8 receptor, important in the regulation of neutrophil activation and chemotaxis.
CONCLUSIONS
The chromosomal region 2q 23-35 requires further detailed study in NOA. Confirmation of these findings in large independent data sets and further analysis of candidate genes in this region will be important in unravelling the molecular basis for this common disease.
目的
寻找微卫星标记位点与结节性骨关节炎（NOA）同胞对之间的基因关联。
方法
采用受累同胞对分析法，对66对患NOA的同胞的基因组DNA进行分析，以确定其与高度多态性微卫星标记位点的关联。使用聚合酶链反应扩增微卫星标记，并在聚丙烯酰胺凝胶上进行分型。
结果
在NOA与2号染色体短臂上的两个位点（2q 23 - 35）之间发现了显著关联（p < 0.05）。该区域骨关节炎的候选基因包括：纤连蛋白，一种存在于正常软骨细胞外基质中的糖蛋白；V型胶原蛋白的α2链，骨骼的主要成分；以及白细胞介素-8受体，在中性粒细胞激活和趋化作用的调节中起重要作用。
结论
2q 23 - 35染色体区域在NOA中需要进一步详细研究。在大型独立数据集中证实这些发现，并对该区域的候选基因进行进一步分析，对于阐明这种常见疾病的分子基础至关重要。
Zotero 插件