摘要
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。
Genomic DNA samples of 75 SLE patients of Hubei Han Nationality and 58 normal controls were typed for C4 gene restriction fragment length polymorphism(RFLP) with the restriction enzyme Taq I and a 5C4 cDNA probe(pAT A).The C4 protein allotypes of 51 SLE patients and 57 controls were investigated simulataneously using immunofixation agarose gel electrophoresis.The Southern blot DNA analysis demonstrated that 24 SLE patients (32.0%) showed a RFLP pattern of A:7.0 5.4 kb;10(13.3%) of B:7.0 6.0 kb;40(53.3%)of C:7.0 6.0 5.4 kb respective;only 1(1.3%)of D:7.0 6.4 5.4 kb(the presence of 6.4 kb fragment representing the deletion of C4A gene).In the controls the RFLP patterns observed were A,B and C,and there were no statistically significant differences between the distribution of C4 RFLP patterns in the SLE patients and normal controls.Analysis of C4 phenotypes showed that 22 of 51 SLE patients(43.0%)were C4A null,whereas 10 of 57 normal individuals(17.5%) were C4A null.Thus the relative risk(RR) is 3.56 χ 2=8.46,P<0 01.This result suggested that the deficiency of C4A protein is closely associated with the susceptibility to SLE,and the deletion of C4A gene is not the main cause for the deficiency of C4A protein in this population.
出处
《中国免疫学杂志》
CAS
CSCD
北大核心
1997年第2期112-115,共4页
Chinese Journal of Immunology
基金
国家自然科学基金
国家教委优秀年轻教师基金
湖北省自然科学基金