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目的 :探讨脑白质疏松 (LA)与Notch3基因突变的关系 .方法 :应用限制性内切酶序列和错配引物试验 ,对 96例影像学表现为LA患者的Notch3基因第 4外显子 133bp基因位点 (Arg133→Cys)突变热点碱基进行检测和分析 ,并与 42例正常人进行对照 .结果 :LA患者和对照组Notch3基因第 4外显子Arg133→Cys未发生突变 .结论 :目前未发现LA与Notch3第 4外显子Arg133→Cys突变的相关性 .但Notch3基因突变有多个不同位点和多态性 ,可增加其他突变位点的检测 ,可望提高Notch3基因突变检测率 ,进一步了解Notch3基因功能及其在脑白质损害疾病中的发生和发展意义
Objective: To investigate the relationship between leucopenia (LA) and Notch3 gene mutation.Methods: The restriction endonuclease sequence and mismatch primer test were used to evaluate the association of 133 bp gene of exon 4 of Notch3 gene in LA patients (Arg133 → Cys) were detected and analyzed and compared with 42 healthy controls.Results: There was no mutation in Arg133 → Cys of Notch3 gene in LA patients and controls.Conclusion: Found that LA and Notch3 exon 4 Arg133 → Cys mutations.But Notch3 gene mutation has a number of different loci and polymorphisms, can increase the detection of other mutations in the site, is expected to improve the detection rate of Notch3 gene mutation, Further understanding of Notch3 gene function and its significance in the development of white matter damage