免疫球蛋白重链（IgH）基因座或其附近的DNA变异与类风湿性关节炎的关联。

The association of DNA variants at or near the IgH locus with rheumatoid arthritis.

作者信息

Sakkas L I, Demaine A G, Vaughan R W, Welsh K I, Panayi G S

机构信息

Rheumatology Unit, United Medical and Dental Schools, Guy's Hospital, London, U.K.

出版信息

J Immunogenet. 1987 Aug-Oct;14(4-5):189-96. doi: 10.1111/j.1744-313x.1987.tb00380.x.

DOI:10.1111/j.1744-313x.1987.tb00380.x

PMID:2900853

Abstract

DNA samples from 78 patients with classical or definite rheumatoid arthritis (RA) and 132 healthy controls were analysed by the Southern blotting method, using two DNA probes: the first to the immunoglobulin mu heavy-chain switch region (S mu), in conjunction with the SstI restriction endonuclease, and the second to the D14S1 region, in conjunction with the HindIII restriction endonuclease. The homozygous phenotype for the 6.9 kb S mu fragment was decreased in the patient group (7.8%) compared to controls (19.1%) (P = 0.04). The homozygous phenotype for the 10.3 kb D14S1 fragment was increased in the patient group (38.5%) compared to controls (21.2%) (P = 0.02). The increase was more pronounced in the DR4-positive patients (51.2%) (P versus DR4-positive controls = 0.009). These results suggest that genes on chromosome 14 are involved in the genetics of RA.

摘要

采用Southern印迹法，使用两种DNA探针，对78例典型或确诊类风湿性关节炎（RA）患者及132名健康对照者的DNA样本进行分析：第一种探针针对免疫球蛋白μ重链转换区（Sμ），与SstI限制性内切酶联合使用；第二种探针针对D14S1区域，与HindIII限制性内切酶联合使用。与对照组（19.1%）相比，患者组中6.9 kb Sμ片段的纯合表型有所降低（7.8%）（P = 0.04）。与对照组（21.2%）相比，患者组中10.3 kb D14S1片段的纯合表型有所增加（38.5%）（P = 0.02）。这种增加在DR4阳性患者中更为明显（51.2%）（与DR4阳性对照相比，P = 0.009）。这些结果表明，14号染色体上的基因参与了RA的遗传过程。