溶血尿毒综合征患儿MCP基因突变分析

Analysis of MCP mutations in 9 Chinese children with hemolytic uremic syndrome

目的对溶血尿毒综合征(HUS)患儿进行膜辅助蛋白(MCP)基因突变分析。方法对9例HUS患儿提取外周血MCP基因组DNA,应用聚合酶链反应(PCR)扩增MCP基因全部14个外显子及其周围的部分内含子,进行DNA序列测定及基因突变检测。50例尿检正常的南方汉族成年人为对照人群。结果9例HUS患儿未发现MCP基因突变,但2例检测到1个MCP变异(IVS9-78G>A),1例为纯合子,另1例为杂合子,50例对照人群基因测序发现同样MCP变异,表明其为MCP基因多态性,但在9例HUS患儿中的等位基因频率与50例对照人群等位基因频率比较,差异有统计学意义(P<0.05)。结论MCP基因多态性(IVS9-78G>A)可能是本研究9例HUS患儿发病的易感因素。

Objectives To investigate genetic mutation of membrane cofactor protein （MCP） in patients with hemolytic uremic syndrome （HUS） . Methods Nine patients with HUS were included in the study. Genomic DNA samples were extracted from the peripheral blood cells. All the coding 14 exons of MCP were evaluated with polymerse chain reaction （PCR） and direct sequencing. Fifty genomic DNA extracted from Han ethnic healthy adults were studied as control. Rusults No mutation was identified in any of the 14 exons and exon-intron boundaries in the 9 patients. However, an aberrance （IVS9-78 G 〉 A） was detected in two of the patients and some of the controls, suggesting the polymorphism of the MCP gene. There was a significant difference in the allelic frequencies of IVS9-78G 〉 A between patients and controls （P 〈 0.05 ） . Conclusions The polymorphism of the MCP gene, IVS9-78G 〉 A, may be a predisposing factor for HUS in the study.