系统性红斑狼疮患者DNaseⅠ基因突变与血清DNaseⅠ活性的关系  

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

作　　者：吴玮[1] 曾凡钦[2] 许德清[2] 陈明春[2] 范瑞强[1] 

机构地区：[1]广东省中医院皮肤科,广州510120 [2]中山大学附属第二医院皮肤科,广州510120

出　　处：《中华皮肤科杂志》2005年第1期26-28,共3页Chinese Journal of Dermatology

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。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.

关 键 词：患者 SLE 基因突变 血清DNA 活性 系统性红斑狼疮 脱氧核糖核酸酶Ⅰ 酶切位点 体细胞 基因组 

分 类 号：R593.241[医药卫生—内科学] R587[医药卫生—临床医学]