SLE患者红细胞I型补体受体密度相关基因多态性分布与临床表型相关性研究  

The polymorphism distribution of erythrocyte complementary receptor type 1(ECR1) density-associated gene and its correlation with clinical phenotypes in patients with systemic lupus erythematosus

作　　者：王津生[1] 李学平[1] 刘晓莉[2] 冒长峙[1] 

机构地区：[1]昆明医学院第二附属医院皮肤科,云南昆明650101 [2]昆明医学院第二附属医院检验科,云南昆明650101

出　　处：《临床皮肤科杂志》2002年第6期354-357,共4页Journal of Clinical Dermatology

基　　金：云南省教委科研基金(0012060)

摘　　要：为探讨系统性红斑狼疮(SLE)患者红细胞Ⅰ型补体受体(ECR1)密度相关基因多态性分布与SLE患者临床表型间的相关性,采用聚合酶链式反应(PCR)结合HindⅢ内切酶限制性片段长度多态性(RFLP)技术对58例SLE患者的ECR1密度相关基因多态性分布进行测定,并比较不同基因型患者在疾病活动期的临床表型。在SLE患者组中,ECR1密度相关基因HH型占36.21%,HL型占62.07%,LL型占1.72%,其ECR1密度相关基因的点突变(由脱氧三磷酸腺苷到脱氧三磷酸胸苷,A→T)发生率明显高于正常人。在疾病活动期,HL组患者的抗核抗体(ANA)阳性率明显高于HH组患者。在抗Sm抗体阳性的患者群中,HL组患者的血清尿酸水平及尿蛋白含量明显高于HH组患者。在SLE患者中ECR1密度相关基因的点突变发生率上升可能在SLE的发病机理中发挥某种作用。将H/L基因型与其他检测指标联合运用,有可能对判断SLE患者病情变化及预后提供帮助。To investigate the polymorphism distribution of ECR1 density associated gene and its correlation with the clinical phenotypes in patients with SLE, PCR RFLP (Hind Ⅲ) was used to determine the polymorphism distribution of ECR1 density associated gene in 58 patients with SLE and the phenotypes of different H/L genotypic SLE patients were compared. The percentages of HH, HL and LL types in SLE patients were 36.21%, 62.07% and 1.72% respectively. The incidence of a A→T point mutation that occurred in the ECR1 encoding sequence and responsible for the H/L polymorphism was significantly higher in SLE patients than that in normal controls. In active period of SLE, patients in group HL had a significant higher positive incidence of ANA than those in group HH. In anti Sm antibody positive group , the serum level of uric acid and the protein concentration of urine of patients with HL genotype were significantly higher than that of patients with HH genotype. The increase of the point mutation rate in the ECR1 encoding sequence may play a certain role in the pathogenesis of SLE. Combined application of H/L genotype and other detectable index may be helpful to predict the progress and prognosis of SLE.

关 键 词：SLE 红细胞 I型补体受体 密度 临床表型 相关性 系统性红斑狼疮 基因多态性 PCR 

分 类 号：R593.241[医药卫生—内科学]