| 溶血尿毒综合征患儿MCP基因突变分析 |
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| 引用本文： | 唐向国,叶礼燕,余自华,任榕娜,陈光明,王承峰,夏桂枝,黄隽,黄俊景,聂晓晶.溶血尿毒综合征患儿MCP基因突变分析[J].临床儿科杂志,2008,26(12):1045-1048. |
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| 作者姓名： | 唐向国 叶礼燕 余自华 任榕娜 陈光明 王承峰 夏桂枝 黄隽 黄俊景 聂晓晶 |
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| 作者单位： | 1. 福建医科大学福总临床医学院儿科
2. 南京军区福州总医院儿科,福建福州,350025 |
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| 基金项目： | 南京军区医学科学技术研究计划
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| 摘 要： | 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。
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| 关 键 词： | 溶血尿毒综合征 膜辅助蛋白 基因突变 |
Analysis of MCP mutations in 9 Chinese children with hemolytic uremic syndrome |
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| TANG Xiang-guo,YE Li-yan,YU Zi-hua,REN Rong-na,CHEN Guang-ming,WANG Cheng-feng,XIA Gui-zhi,HUANG Juan,HUANG Jun-jing,Nie Xiao-jing.Analysis of MCP mutations in 9 Chinese children with hemolytic uremic syndrome[J].The Journal of Clinical Pediatrics,2008,26(12):1045-1048. |
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| Authors: | TANG Xiang-guo YE Li-yan YU Zi-hua REN Rong-na CHEN Guang-ming WANG Cheng-feng XIA Gui-zhi HUANG Juan HUANG Jun-jing Nie Xiao-jing |
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| Institution: | TANG Xiang-guo1,YE Li-yan1,YU Zi-hua2,REN Rong-na2,CHEN Guang-ming2,WANG Cheng-feng2,XIA Gui-zhi2,HUANG Juan2,HUANG Jun-jing2,Nie Xiao-jing2 (1.Department of Pediatrics,Fuzong Clinical Medical College of Fujian Medical Uni- versity,2.Fuzhou General Hospital of Nanjing Comm,,Fuzhou 350025,Fujian,China) |
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| Abstract: | 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 sam- ples 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 con- trol. Rusults No mutation was identified in any of the 14 exons and ... |
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| Keywords: | hemolytic uremic syndrome MCP gene mutation |
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