中华皮肤科杂志 ›› 2005, Vol. 38 ›› Issue (1): 26-28.

• 论著 • 上一篇    下一篇

系统性红斑狼疮患者DNaseⅠ基因突变与血清DNaseⅠ活性的关系

吴玮1, 曾凡钦1, 许德清1, 陈明春1, 范瑞强2   

  1. 1. 中山大学附属第二医院皮肤科;
    2. 广东省中医院皮肤科
  • 收稿日期:2004-01-14 出版日期:2005-01-15 发布日期:2005-01-15

Correlation between DNaseⅠGene Mutation and Serum DnaseⅠ Activity in Patients with Systemic Lupus Erythematosus

WU Wei1, ZENG Fan-qin1, XU De-qing1, CHEN Ming-chun1, FAN Rui-qiang2   

  1. Department of Dermatovenereology. The Second Affiliated Hospital of Sun Yat-sen University, Guangzhou 510120, China
  • Received:2004-01-14 Online:2005-01-15 Published:2005-01-15

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摘要： 目的 探讨SLE患者血清中脱氧核糖核酸酶Ⅰ(DNaseⅠ)活性下降与DNaseⅠ基因突变的内在联系。方法 选择SLE患者70例,用DNA-甲基绿比色法测定血清DNaseⅠ的活性,并以正常人作平行对照;收集SLE患者100例,应用限制性片段长度多态性检测患者体细胞DNaseⅠ基因组第172位A→T的基因突变。突变后的基因产生一个NSPⅠ酶切位点,在适当条件下进行酶切可鉴别出发生突变的基因。结果 该组病例中未发现体细胞DNaseⅠ基因组第172位A→T的突变。结论 我国SLE人群中暂未发现该突变位点,SLE患者DNaseⅠ活性降低可能与该基因突变无关。

关键词: 红斑狼疮,系统性, 脱氧核糖核酸酶Ⅰ, 突变

Abstract: Objective To investigate the correlation between the decreased DNaseⅠ activity and the mutation of DNaseⅠgene in patients with systemic lupus erythematosus (SLE), through detecting an A→T mutation at the position 172 in the exonⅡof DNaseⅠgene. Methods The serum DNaseⅠactivities of 70 SLE patients were quantitatively measured by the DNA-methyl green substrate colorimetry. The DNaseⅠ gene in 100 SLE patients was analyzed by restriction fragment length polymorphism(RFLP) to detect the existence of A→T mutation at position 172 in the exon Ⅱof DNaseⅠgene. The mutation might lead to a NSPⅠendonuclease location which could be digested by NSPⅠ. Results The mutation wasn not found in SLE patients. Conclusion There is no A→T mutation at the position 172 in the exonⅡof DNaseⅠgene in our SLE patients, and the low DNaseⅠ activity in SLE patients may not be associated with such a change.

Key words: Lupus erythematosus, systemic, Deoxyribonuclease I, Mutation