DMD基因部分缺失型生殖腺嵌合体一例  

Germinal mosaicism for partial deletion of the Dystrophin gene in a family affected with Duchenne muscular dystrophy

作　　者：肖海[1] 张照婧 李涛[1] 张倩[1] 郭谦楠[1] 吴东[1] 王红丹[1] 张梦汀 高越[1] 廖世秀[1] Xiao Hai;Zhang Zhaojing;Li Tao;Zhang Qian;Guo Qiannan;Wu Dong;Wang Hongdan;Zhang Mengting;Gao Yue;Liao Shixiu(Medical Genetics Institute of Henan Province,Henan Provincial People’s Hospital,Zhengzhou,Henan 450003,China;Department of Medical Genetics and Cell Biology,School of Basic Medical Sciences,Zhengzhou University,Zhengzhou,Henan 450003,China)

机构地区：[1]河南省人民医院医学遗传研究所,郑州450003 [2]郑州大学基础医学院医学遗传与细胞生物学系,450003

出　　处：《中华医学遗传学杂志》2019年第10期1015-1018,共4页Chinese Journal of Medical Genetics

基　　金：河南省科技攻关计划项目(182102310503,182102310218);河南省医学科技攻关计划项目(201702156,2018020393).

摘　　要：目的对一个杜氏肌营养不良(Duchenne muscular dystrophy,DMD)家系进行基因检测,为其家系提供产前诊断.方法应用多重连接依赖探针扩增技术对一个具有DMD生育史的家系进行Dystrophin基因全部79个外显子的缺失与重复检测.选用5个多态性位点(3'-STR,5'-STR,45-STR,49-STR,50-STR)进行单倍型连锁分析.结果两例DMD患儿(先证者及其弟弟)Dystrophin基因第51~55外显子缺失;先证者母亲外周血DNA未发现Dystrophin基因缺失或重复;胎儿DMD基因未见缺失重复,且胎儿与先证者单倍型不同,提示胎儿患病可能性小.结论先证者母亲外周血DNA未检测到Dystrophin基因变异,但其连续生育了两例具有相同缺失型变异的DMD患儿,提示可能为该变异的生殖腺嵌合体.对Dystrophin基因新发变异,当外周血基因检测显示先证者母亲未携带致病变异时,仍不能排除其为生殖腺嵌合体的可能,再次妊娠时需进行产前基因诊断.Objective To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy(DMD).Methods Multiplex ligation dependent probe amplification(MLPA)was used to detect potential deletion and duplication of the Dystrophin gene.Haplotype analysis was performed using five short tandem repeat polymorphism loci(3'-STR,5'-STR,45-STR,49-STR,50-STR of the DMD gene.Results A same deletional mutation(exons 51-55)of the DMD gene was detected in two brothers but not in their mother.The patients and fetus have inherited different haplotypes of the Dystrophin gene from their mother,suggesting that the fetus was unaffected.Conclusion The mother was very likely to harbor germline mosaicism for the Dystrophin gene variant.Genetic testing of peripheral blood samples cannot rule out germline mosaicism in the mother.Prenatal diagnosis should be provided for subsequent pregnancies in this family.

关 键 词：DYSTROPHIN基因 生殖腺嵌合 产前诊断 杜氏肌营养不良 

分 类 号：R714[医药卫生—妇产科学]