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瑞典系统性红斑狼疮患者中I型补体C2缺陷基因的患病率。

Prevalence of the type I complement C2 deficiency gene in Swedish systemic lupus erythematosus patients.

作者信息

Truedsson L, Sturfelt G, Nived O

机构信息

Department of Medical Microbiology, Lund University, Sweden.

出版信息

Lupus. 1993 Oct;2(5):325-7. doi: 10.1177/096120339300200509.

Abstract

The prevalence of type I complement C2 deficiency in Swedish systemic lupus erythematosus (SLE) patients was investigated by DNA analysis. The characteristic 28 base pair deletion was determined by polymerase chain reaction analysis followed by gel electrophoresis. Five of the 86 patients (5.8%) retrieved from a defined population of 160,000 individuals were heterozygous for the C2Q0 gene compared with one heterozygote of 100 local blood donors (1%), the difference in prevalence not being significant. Among 26 other SLE patients, two patients who are siblings were C2Q0 homozygous. No distinctive clinical features among the patients with C2Q0 genes were obvious, although none had renal involvement.

摘要

通过DNA分析对瑞典系统性红斑狼疮(SLE)患者中I型补体C2缺乏症的患病率进行了调查。通过聚合酶链反应分析和凝胶电泳确定了特征性的28个碱基对缺失。从160,000人的特定人群中检索出的86名患者中有5名(5.8%)为C2Q0基因杂合子,而100名当地献血者中有1名杂合子(1%),患病率差异不显著。在其他26名SLE患者中,有两名是同胞的患者为C2Q0纯合子。尽管没有患者有肾脏受累,但具有C2Q0基因的患者中没有明显的独特临床特征。

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