作　　者： (何洋）; (杨亭亭）; (罗晶晶）; (向雅娟）; (王阳阳）; (钟珊珊）; (阿荣）; (高枫）; (高旭光）; (刘广志）;

机构地区： 北京大学人民医院神经内科,100044

出　　处： 《中国神经免疫学和神经病学杂志》 2017年第4期245-248,261,共5页

摘　　要： 目的通过外显子组学测序筛查视神经脊髓炎(neuromyelitis optica,NMO)的基因突变位点,为进一步确定NMO的易感基因积累资料。方法收集散发性NMO患者4例,取其外周血后提取DNA,基于IlluminaHiSeq平台进行全外显子高通量测序,旨在发现患者中共有的基因突变位点。结果 4例患者中共存在33个共有突变位点,其中9个单核苷酸突变和24个小片段插入缺失突变,涉及29个基因。结论 4例NMO患者中共发现33个共有突变位点,涉及29个基因。 Objective The gene mutations of neuromyelitis optica（NMO）were screened by exomes equencing,in order to accumulate data for further identification of NMO susceptibility genes.Methods Peripheral blood of four sporadic NMO patients was sampled for the purification of DNA.High-resolution exomes equencing was performed via IlluminaHiSeq system, aiming at unravelling common mutation loci of genes among these cases.Results Thirty-three common mutation loci were found, in which there were nine single nucleotidepoly morphism mutations and twenty-four small insert/deletion mutations.Conclusions In this study,thirty-three mutation loci, involving twenty-nine genes, may exist as the disease susceptibility genes.

关 键 词： 视神经脊髓炎 全外显子 易感基因 单核苷酸突变 小片段插入缺失突变