中国西北地区102例儿童Duchenne型肌营养不良基因突变及家系分析研究  

102 Cases of Duchenne Muscular Dystrophy in Children in Northwest China Study on Gene Mutation and Family Analysis

作　　者：杨乐[1] 赵斯钰[1] 郑妍妍 李桃利 宋西晓[1] 王燕[1] YANG Le;ZHAO Si-yu;ZHENG Yan-yan;LI Tao-li;SONG Xi-xiao;WANG Yan(Department of Neurology,Xi’an Children’s Hospital,Xi’an 710002,China)

机构地区：[1]西安市儿童医院神经内科,西安710002

出　　处：《现代检验医学杂志》2021年第5期12-15,27,共5页Journal of Modern Laboratory Medicine

基　　金：陕西省社会发展科技攻关项目,编号2015SF214。

摘　　要：目的了解西北地区Duchenne型肌营养不良症(DMD)患者基因突变特点。方法收集2014年7月~2020年6月的102例DMD患者作为研究对象,采用多重连接依赖探针扩增(multiplex ligationdependent probe amplification,MLPA)技术、二代基因测序(next-generation sepuencing,NGS)技术及Sanger测序方法进行基因检测,分析西北地区DMD患者基因缺失突变、重复突变、点突变的分布区域特点,且对2个DMD家系基因特点进行分析。结果102例DMD患者,72.5%来源于遗传,27.5%为新发突变。基因突变类型中,85.3%为片段缺失,6.9%为片段重复,7.8%为点突变。片段缺失突变中,≤5个数目的外显子缺失最为常见,占比为66.6%;外显子44~54是最常见的缺失区域,外显子2是最常见的重复区域。2个家系研究,家系1中突变位点为缺失突变的热点区域,外显子45~51区域;家系2中主要是重复突变,集中在外显子2和17~18区域。结论大样本对西北地区DMD患者及家系的基因分析,可以进一步了解DMD患者基因谱,为基因治疗建立基础。Objective To investigate the genotype characteristics of Duchenne muscular dystrophy(DMD)in Northwest China.Methods A total of 102 patients with DMD from July 2014 to June 2020 were collected as the research subjects.MLPA,NGS and Sanger sequencing were used for gene detection to analyze the regional characteristics of gene detection mutation,repeated mutation and point mutation in DMD patients in Northwest China,and the genetic characteristics of two DMD families were analyzed.Results Of the 102 patients with DMD,72.5%were genetic and 27.5%were new mutations.Among the mutant types,85.3%were fragment deletion,6.9%were fragment duplication and 7.8%were point mutations.Among the fragment deletion mutations,the deletion of exon with≤5 numbers was the most common,accounting for 66.6%.Exon 44~54 was the most common missing region,and exon 2 was the most common repeating region.Two families were studied.In family 1,the mutation site was the hot spot of deletion mutation,in the exon 45~51 region.Family 2 was dominated by repeated mutations,concentrated in exon 2 and the 17~18 region.Conclusion Genetic analysis of large samples of DMD patients and their families in Northwest China could further understand the gene profile of DMD patients,and lay a foundation for gene therapy.

关 键 词：DUCHENNE型肌营养不良 基因 突变 家系 

分 类 号：R746.2[医药卫生—神经病学与精神病学] Q754[医药卫生—临床医学]