假肥大型进行性肌营养不良2个核心家系DMD基因分析  

Analysis of DMD gene in two Chinese families with Duchenne/Becker muscular dystrophy

作　　者：李美蓉[1] 路卯[1] 毋晋萍 

机构地区：[1]山西晋煤集团总医院儿科,晋城048006

出　　处：《山西医科大学学报》2013年第4期278-280,326,327,共5页Journal of Shanxi Medical University

摘　　要：目的对临床疑诊Duchenne/Becker肌营养不良患儿进行基因诊断,同时进行携带者筛查。方法收集先证者及其家系成员的临床资料,采用多重连接依赖的探针扩增(MLPA)方法对患儿及其母亲的DMD基因进行突变检测。结果确诊2例患儿均为DMD基因的缺失突变,母亲为携带者。先证者1为DMD基因45-47号外显子缺失,其母亲为45-47号外显子的杂合缺失突变;先证者2为DMD基因20-34号外显子缺失,其母亲为20-34号外显子的杂合缺失突变。结论MLPA进行DMD基因检测是确诊Duchenne/Becker肌营养不良的快速方法,同时可进行携带者筛查,为遗传咨询提供准确信息。Objective To explore the gene diagnosis of suspected Duchenne muscular dystrophy （DMD）/Becker muscular dystrophy （BMD） patients and screen the carrier. Methods Clinical features of 2 Chinese families were collected. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes, and muhiplex ligation dependent probe amplification （MLPA） was ap- plied to detect the DMD gene for identifying the genetic mutation. Results The proband 1 had deletions of exons 45 -47, and his mother had heterozygous deletions of exons 45 - 47. The proband 2 had deletions of exons 20 - 34, and his mother had heterozygous de- letions of exons 20 - 34. Conclusion The MLPA is a simple and quick diagnostic tool for DMD/BMD and its carriers,and also help- ful in genetic counseling.

关 键 词：假肥大型进行性肌营养不良DMD BMD DMD基因 基因缺失 

分 类 号：R746[医药卫生—神经病学与精神病学]