摘要
目的通过研究系统性红斑狼疮(SLE)患者外周血C3基因中是否存在外显子39(ex39)发生点突变,探讨SLE的发病机制是否与C3基因突变相关.方法应用反转录聚合酶链反应(RT-PCR)检测了92例SLE患者和45名正常人外周血中补体C3mRNA序列,并进行DNA测序.结果SLE皮损组与非皮损组、肾损组与非肾损组C3阳性表达率相比无统计学差异;但SLE患者中有血液损害组C3阳性率明显低于无血液损害组,有神经系统损伤组C3阳性率也明显低于无神经系统损伤组,两者均有统计学差异.65名SLE患者和45名正常对照未发现补体C3exon39点突变.结论SLE患者在血液系统和神经系统损伤时C3mRNA的表达减少;大部份SLE患者补体C3不存在ex39的点突变,不能证实补体C3ex39的点突变为SLE患者的易感基因;本研究资料中未明确发现云南汉族SLE患者携带遗传性C3缺乏.
Objective To detect the existence of gene mutation of ex39 through radomized large SLE sample investigation, and to find the correlation between SLE pathogenesis and gene mutation. Methods C3cDNA from peripheral blood nuclear cells of 92 patients and 54 normal controls was amplified by Reverse transcription PCR （RT-PCR） and directly sequenced. Results There was no statistical difference in the positive rates of C3 expression between lupus lesion group and non-lupus lesion group or lupus nephritis group and non-lupus nephri- tis group. However, the levels of C3mRNA expression in NPSLE group were significantly lower than those in non-NPSLE group, there was statistical significance. So did SLE group who had hematological system dam- aged. There was no existence of gene mutation of ex39 from 65 SLE patients by using RT-PCR. Conclusion The levels of C3 mRNA expression in SLE group who had hematological system or nervous system damaged decrease markedly; There is no ex39 gene mutation of C3 in patients with SLE, gene mutation of ex39 can＇t be proved as susceptible genes in the patients with SLE in Yunnan. At the same time, we did not found hereditary homozygous C3 deficiency among them.
出处
《昆明医学院学报》
2009年第3期40-43,共4页
Journal of Kunming Medical College
关键词
系统性红斑狼疮
反转录聚合酶链反应
补体C3
Systemic lugus erythematosus
Reverse transcriptase polymerase chain reaction
Complement C3
