非典型溶血尿毒综合征分子遗传学研究进展  

Progress on molecular genetics in atypical hemolytic uremic syndrome

作　　者：高力敏(综述)[1] 石岩(审校)[1] 

机构地区：[1]山西医科大学第一医院儿科,太原030001

出　　处：《国际儿科学杂志》2011年第2期147-150,共4页International Journal of Pediatrics

摘　　要：非典型溶血尿毒综合征是一种罕见的有遗传倾向的疾病，易患基因主要是补体旁路途径活化的调控基因：补体因子H基因、膜辅助蛋白基因和补体因子I基因。但其总突变率约为50％，突变类型包括错义突变、无义突变、缺失突变、插入突变和剪切位点突变。遗传方式有常染色体隐性遗传和常染色体显性遗传，显性遗传的三个突变基因均为不完全外显。Atypical hemolytic uremic syndrome （aHUS） has recently been shown to be a rare disease of genetic predisposition, including genes of complement factor H （ CFH）, membrane cofactor protein（ MCP, CD46） and complement factor I （CFI）, which are complement regulatory genes. Genes mutation is about 50%, involving the three genes mutation, including nonsense mutation, missen mutation, silent mutation, splice mutation and insertion mutation. Autosomal dominant inheritance and autosomal recessive inheritance have been reported, however, for autosomal dominant inheritance, the three genes mutations are incomplete penetranee.

关 键 词：非典型溶血尿毒综合征 突变 补体因子H 膜辅助蛋白 补体因子I 

分 类 号：R692.5[医药卫生—泌尿科学]