胰岛素依赖性糖尿病病人补体第二途径B因子多态性的检测

用琼脂糖凝胶高压电泳继以免疫固定技术对30例胰岛素依赖性糖尿病(IDDM)病人进行了补体第二途径B因子(Bf)遗传多态性的检测。检测结果表明,IDDM病人的BfF的基因率频(0.3667)显著高于正常人(0.1159),P《0.001;且BfFF表型也较正常人显著增高,P《0.001,BfFF表型人群,IDDM发病的相对危险性(RR)为12.58。     

全身性红斑狼疮、银屑病和胰岛素依赖性糖尿病病人补体成份BfSS亚型的检测

用薄层聚丙烯酰胺凝胶等电聚焦方法对62例全身性红斑狼疮(SLE)、61例寻常型银屑病(PV)及17例胰岛素依赖性糖尿病(IDDM)病人补体第二途径成份B因子SS型的亚型分布及基因频率进行了检测。结果表明,SLB病人BfSS亚基因频率分别为,S_A0.516,S_B0.484;PV为:S_A0.492,S_B0.508,IDDM为:S_A0.676,S_B0.324。与正常人(S_A0.414,S_B0.586)比较,三种疾病的S_A亚基因频率均有不同程度的增高,并伴有S_B亚基因频率的降低。统计结果表明,IDDM与正常人的差异显著(P<0.01),SLE次之(P<0.05),PV不著(P>0.1)。此外,这三种疾病病人BfS_A-S_A亚型的表型频率(分别为30.6%、31.1%和41.1%)都显著高于正常19.3%),统计学表明差异均显著(P<0.05)。     

中国云南纳西,普米,怒和傈僳四民族补体B因子多态性的检测

Ｂ因子（ｆａｃｔｏｒＢ，Ｂｆ）为一种多态性分子，至今已发现２０种以上的同种异型，其中最多见的为Ｂｆ＊Ｓ和Ｂｆ＊Ｆ两型，ＳＯ７、Ｆ１少见，其余为罕见型［１，２］。至今在世界范围内进行Ｂｆ多态性的研究发现Ｂｆ表型分布与基因频率在不同地区与不同民族之间存在...     

湖北汉人全身性红斑狼疮患者补体第4成分基因限制性片段长度多态性的研究

用Ｃ４５末端探针和限制性内切酶ＴａｑⅠ对７５例湖北汉人ＳＬＥ患者和５８例正常人进行了ＲＦＬＰ检测，同时用琼脂糖凝胶电泳免疫固定方法测定了其中５１例患者和５７例正常对照的Ｃ４蛋白质表达情况，结果发现，患者中２４例（３２．０％）的ＲＦＬＰ带型为７．０－５．４ｋｂ（Ａ型），１０例（１３．３％）为７．０－６．０ｋｂ（Ｂ型），４０例（５３．３％）患者ＲＦＬＰ带型为７．０－６．０－５．４ｋｂ（Ｃ型），仅一例（１．３％）带型为７．０－６．４－５．４ｋｂ（Ｄ型），即带有表示Ｃ４Ａ基因缺失的６．４ｋｂ片段。正常对照组中ＲＦＬＰ带型仅检出Ａ、Ｂ、Ｃ三型，与患者组在分布上无统计学差异。Ｃ４表型分析结果发现，患者中Ｃ４ＡＱ０者为２２例（４３％），正常对照中Ｃ４ＡＱ０者为１０例（１７．５％），计算ＲＲ值＝３．５６，χ２＝８．４６，Ｐ＜０．０１。上述结果表明，Ｃ４Ａ蛋白质缺失与ＳＬＥ易感性密切相关，但在湖北人群中Ｃ４Ａ蛋白质缺失的主要原因可能不是由于Ｃ４Ａ基因的缺失所致。     

胰岛素依赖型糖尿病患者补体第二途径B因子遗传多态性检测

胰岛素依赖型糖尿病患者补体第二途径Ｂ因子遗传多态性检测李伟民，贺冶冰，宋登元（湖北咸宁医学院内科，咸宁４３７１００）近年来发现，补体Ｂｆ、Ｃ＿４Ａ、Ｃ＿４Ｂ成份各别型的频率变化与ＩＤＤＭ（胰岛素依赖型糖尿病）有明显关联。自１９７８年Ｒａｕｍ等报道在白...     

洛阳地区汉族补体B因子主要同种异型遗传多态性分析

应用琼脂糖高压电泳和免疫固定技术，检测了洛阳地区健康汉族成人补体Ｂ因子的多态性。在１１９例无血缘关系个体中，Ｂｆ表型为ＳＳ７７人，ＦＳ３２人，ＦＦ１０人，计算基因频率分别为ＢＦ＊Ｓ：０．７８１ ５，ＢＦ＊０．２１８５。与广东等南方汉族人的资料相比，其Ｂｆ遗传多态性分布有显著差异，对此进行了讨论。结果提供了具有地域特点的Ｂｆ多态性资料，可供医学等多方面的研究工作参考。     

全身性红斑狼疮病人C4基因组DNA限制性片段长度多态性的检测

以Ｃ４基因５＇ｃＤＮＡ片段为探针，经Ｓｏｕｔｈｅｒｎ印迹杂交法对２４例全身性红斑狼疮（ＳＬＥ）病人基因组ＤＮＡ的Ｃ４基因限制性片段长度多态性（ＲＦＬＰ）进行了分析，并与６０例健康人资料进行了对比。结果显示，ＳＬＥ病人Ｃ４Ａ基因缺失的表型频率与基因型频率远较健康人为高，分别为２９．２％对６．７％（Ｘ＾２＝７．７５，Ｐ＜０．０１）及１８．７％对３．３％（Ｘ＾２＝１０．８，Ｐ＜０．００５）。在两名同合子     

原发性高血压病备解素因子B的遗传多态性研究

对遗传性高血压病人（Ａ组）ｎ＝１０１，非遗传性高血压病人（Ｂ组）ｎ＝５２及正常健康人（Ｃ组）ｎ＝２３４，运用ＰＡＧＩＥＦ等电聚焦及免疫固定法采用进口两性电解质及抗备解因素因子，血清进行ＨＬＡ－Ⅲ类的Ｂｆ测定，结果发现：Ａ组病人，ＢｆＳＳ０７明显高于Ｂ组及Ｃ组，并检出Ｆａ及Ｆｂ亚型；ＢｆＦ型阳性人群，高血压病的相对危险率（ＲＲ）增高，ＲＲ＝１．８７，Ｐ＜０．０５．Ａ组病人单倍型ＢｆＦ３与ＤＱ７连锁，ＢｆＳＳ０７与Ｂ７５连锁，但Ｂ组则无这种连锁关系，提示，ＢｆＳＳ０７及Ｆａ基因可能与遗传性高血压易感基因有关。     

人补体B因子cDNA克隆化及其在大肠杆菌中的表达

本文报告用免疫学方法从人肝cDNA文库中筛选到数个B因子cDNA克隆,它们分别位于Ba和Bb片段。通过对其中一克隆的改建,成功地在大肠杆菌中高效率地表达了重组人补体B因子片段,表达的人补体B因子融合蛋白约占细菌总蛋白量的20%。     

系统性红斑狼疮患者血清补体H因子水平及其意义

目的:通过检测系统性红斑狼疮(SLE)患者血清补体因子H(CFH)的表达水平,探讨其水平变化与SLE患者其他实验室检测指标关系及其在SLE发病中的作用.方法:选取符合1982年美国风湿病学会制定的SLE诊断标准的37例SLE患者,另选30例健康对照者,采取酶联免疫吸附法(ELISA)检测SLE组及对照组血清中的CFH的水平,同时检测临床相关指标,分析CFH在各组患者血中的变化及其与临床各指标的相关性.结果:SLE患者血清CFH水平为(332.96±135.27)μg/L,低于正常对照组水平[(414.81±72.79)μg/L,P<0.05].SLE血清CFH水平与补体C3呈明显正相关(r=0.518,P<0.001),与ds-DNA,尿微量白蛋白,SLEDAI评分呈负相关(r=-0.425,P<0.05;r=-0.472,P<0.05;r=-0.369,P<0.05).结论:CFH的减少可能参与SLE的发病过程,特别与SLE造成肾脏损伤有?是导致SLE患者低补体血症的因素之一,在一定程度上可反映疾病活动程度.     

中国南方系统性红斑狼疮患者Fas-670基因多态性研究

目的:研究Fas-670基因多态性在中国南方地区汉族人群中的分布及其与系统性红斑狼疮(SLE)的相关性。方法:应用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)方法,对103例SLE患者和110例中国南方地区汉族正常对照者进行了Fas-670基因多态性检测。结果:SLE患者Fas基因-670位点基因型和等位基因频率与正常对照组比较无显著差异;而Fas基因-670位点基因型和等位基因频率分布,按性别分层后,男性和女性SLE患者分别与正常对照者比较以及SLE并发狼疮性肾炎(LN)患者和正常对照组比较及SLE并发LN患者与未并发LN患者间比较,均无显著差异。结论:Fas-670基因多态性与中国南方地区汉族系统性红斑狼疮无相关性。     

Association study of Toll-like receptor 9 gene polymorphism in Korean patients with systemic lupus erythematosus

Mammalian Toll-like receptors (TLR) play an important role in both adaptive immunity and innate immunity. Genetic variations within TLR genes are known to be associated with a variety of inflammatory and infectious diseases. TLR9 is potentially associated with autoimmune diseases, because it participates in the production of pro-inflammatory cytokines and the maturation of dendritic cells. We investigated the association of four TLR9 gene polymorphisms (-1486 T>C, -1237 C>T, +1174 A>G and +2848 G>A) with the susceptibility to systemic lupus erythematosus (SLE) and related phenotypes in 680 Korean people (350 SLE patients and 330 controls). TLR9 gene polymorphisms were not significantly associated with the susceptibility to SLE and related phenotypes.     

Prognosis of neonates in pregnant women with systemic lupus erythematosus

PURPOSE: The effects of maternal systemic lupus erythematosus (SLE) on neonatal prognosis were examined by comparing clinical features of full-term babies born to lupus mothers and age- and parity-matched controls. PATIENTS AND METHODS: From January 2000 to December 2005, 39 singletons were born to 37 SLE women. Excluding 11 cases of prematurity and preeclampsia, 28 full-term neonates formed the lupus group. The control group included 66 full-term babies. The retrospective study examined medical records and compared gestational age, birth weight, days of hospital stay, small for gestational age (SGA) frequency, Apgar scores < 7, and parity. Lupus neonates were tested for anti-nuclear antibody (ANA) and platelet count, and electrocardiogram was performed. RESULTS: Average gestational age (38 vs. 39 weeks, p < 0.05) and birth weight (2,775 vs. 3,263g, p < 0.05) were significantly different between the SLE and control groups. SGA frequency was higher in the SLE group (25% vs. 4.5%, p < 0.05). No significant difference was observed in Apgar score, birth weight, gestational age, SGA frequency, and platelet count between lupus subgroups formed based on anti-dsDNA antibody levels and antiphospholipid antibody status. CONCLUSION: The association of maternal ANAs, antiphospholipid antibodies, and drug history with neonatal prognosis could not be elucidated. However, even in uncomplicated pregnancies, maternal lupus is disadvantageous for gestational age, birth weight, and SGA frequency.     

Impaired tumour necrosis factor-alpha (TNF-alpha) production and abnormal B cell response to TNF-alpha in patients with systemic lupus erythematosus (SLE).

We examined the TNF-alpha activity in culture supernatants of monocytes isolated from the peripheral blood of patients with SLE and of normal individuals. The monocytes from patients with SLE stimulated with silica particles, lipopolysaccharide or Staphylococcus aureus Cowan 1 secreted significantly lower amounts of TNF-alpha than did normal monocytes. A decreased TNF mRNA expression was observed in peripheral blood mononuclear cells stimulated by mitogens from patients with SLE. Furthermore, we examined the effect of recombinant TNF-alpha (rTNF-alpha) on the B cell function in SLE patients. rTNF-alpha inhibited the spontaneous B cell proliferation of SLE, but tended to enhance the normal B cell proliferation. Spontaneous IgM production from SLE B cells was inhibited by rTNF-alpha, but that from normal B cells was not. Spontaneous IgG production was unaffected by rTNF-alpha. Also, rTNF-alpha did not affect the viability of B cells. These findings suggest that an impaired TNF-alpha production and an abnormal B cell response to TNF-alpha play a role in the immunological dysfunction in patients with SLE.     

Hepatitis B antigen and systemic lupus erythematosus

Summary Sera from 22 patients with systemic lupus erythematosus (SLE) were examined for the presence of hepatitis B antigen (HBsAg) by a complement fixation (CF) test, by an immunoelectrophoretic method (counterelectrophoresis-CEP), and by radioimmunoassay (RIA). The sera from 8 patients gave positive results using CF. However, the same sera and sera from 28 additional SLE patients, when tested with CEP and RIA, were not shown to contain HBsAg.Additional studies were carried out in order to characterize the factor responsible for the false positive CF of the 8 SLE sera. It was shown that the sera also fixed complement in presence of normal serum previously submitted to freezing and thawing or heating at 65°C. The complement fixing factor was readily absorbed by aggregated IgG but not by insolubilized HBsAg. Complement fixation was strongly diminished by 2-mercaptoethanol treatment of SLE serum. It thus appears that the false positive reactions for the presence of HBsAg obtained by CF are due to the occurrence of anti-antibodies reacting with aggregated IgG. There is no increased incidence of HBsAg in the serum of SLE patients.This work was supported by the Dubois-Ferrière Dinu Lipatti Foundation and the Swiss National Fund (grant no. SR 3260-0.74).     

血清泌乳素与系统性红斑狼疮患者肾损害的相关性

目的: 探讨系统性红斑狼疮（SLE）患者血清PRL水平与肾损害的相关性。方法： 应用免疫放射量度分析法检测80例SLE患者血清PRL水平并分析其与肾受累的关系。 结果： 高泌乳素血症者肾受累发生率明显高于PRL水平正常者，血清PRL水平与SLEDAI评分、抗ds-DNA抗体滴度、24 h尿蛋白定量、尿微量白蛋白定量（MA）、尿转铁蛋白定量（MTF）、尿免疫球蛋白定量（Ig）及肾脏病理活动指数呈正相关，与血清白蛋白(ALB)水平呈负相关。Logistic 回归分析显示肾受累与血清PRL水平增高及C3水平降低有关。结论： 血清PRL水平升高与SLE肾脏受累有关，其检测可作为肾脏受累的监测指标之一。     

MCP-1 promoter polymorphism in Spanish patients with systemic lupus erythematosus

The possible role of the functional polymorphism located in the regulatory region of the monocyte chemoattractant protein-1 (MCP-1) gene in the susceptibility to systemic lupus erythematosus (SLE) was investigated. Two hundred and seventy-six SLE patients (among them, 99 with lupus nephritis and 55 with cutaneous vasculitis) and 194 ethnically matched healthy controls were included in the study. Genotyping for -2518 (A/G) MCP-1 gene polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. No association between -2518 (A/G) MCP-1 polymorphism and susceptibility to SLE nor to lupus nephritis was found. However, a significant increase in the frequency of genotype AG and a decrease in the frequency of genotype AA were found among patients with cutaneous vasculitis (51% of AG vs. 32% in individuals without cutaneous vasculitis; P=0.008, OR=2.2, 95% CI: 1.18-4.25; and 47% of AA vs. 64%; P=0.03, OR=0.5, 95% CI: 0.27-0.96, respectively). These results indicate an association between the presence of G at position -2518 in the MCP-1 promoter region and the presence of cutaneous vasculitis among patients with SLE. This polymorphism does not seem to influence the susceptibility to SLE nor the appearance of lupus nephritis. Further studies are necessary in order to elucidate the role of this polymorphism in the pathogenesis of other inflammatory autoimmune diseases.     

The expression of PD-1 and level of CXCL10 in patients with systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is known tobe a chronic and complicated rheumatic diseasewith an autoimmune etiology.SLEis also a proto-type of autoimmune disease due to a substantialoverlapinits clinical symptoms withother autoim-mune diseases . The immune systemof SLElosesbalance of auto-tolerance ,in which lymphocytesare activated excessively,contributingto SLE de-velopment .It has been well established that effi-cient T cell-mediated immune responses requirenot only the TCR-mediat…     

Quantitation of autoantibody-secreting B cells in systemic lupus erythematosus

An ELISA spot assay was used to quantitate the number of autoantibody-secreting B cells in the peripheral blood of patients with systemic lupus erythematosus. Patients with active disease had 20 fold more anti-DNA, 4 fold more anti-actin and 3 fold more anti-myosin secreting lymphocytes than controls but normal numbers of anti-cardiolipin and anti-transferrin secreting B cells. 60% of SLE patients had increased numbers of B cells reactive with multiple autoantigens. These data suggest that B cell activation in SLE may be influenced by both antigen-specific and antigen-independent factors.     

系统性红斑狼疮患者外周血白细胞糖皮质激素受体及血浆皮质醇测定

应用放射配体结合法测定了12例未用糖皮质激素的系统性红斑狼疮女性患者外周血糖皮质激素受体的变化,发现所有患者糖皮质激素受体少于正常人;同时应用放射免疫分析法测定了患者血浆皮质醇,结果与正常人无明显差异;提示系统性红斑狼疮时糖皮质激素—糖皮质激素受体系统异常,本文对这一异常的意义做了探讨。