多重连接依赖性探针扩增技术在杜氏肌营养不良分子诊断中的应用  

Application of MLPA in molecular diagnosis of DMD

作　　者：林炎鸿[1] 丘丽萍[1] 郑德柱[1] 严爱贞[1] 兰风华[1] 

机构地区：[1]南京军区福州总医院(第二军医大学福州临床医学院)遗传病分子诊断中心,福建福州350025

出　　处：《中国实用儿科杂志》2014年第2期115-119,共5页Chinese Journal of Practical Pediatrics

摘　　要：目的探讨多重连接依赖性探针扩增技术(MLPA)在杜氏肌营养不良(DMD)分子诊断中的应用。方法对2008年12月至2013年1月南京军区福州总医院就诊的18个家系中临床怀疑DMD患者进行MLPA分析,并对其中2个家系中高风险孕妇进行产前分子诊断。结果通过MLPA检测,在6例患者DMD基因中检测出外显子缺失(其中2例为新生突变),1例为外显子重复突变。产前分子诊断中在其中1例胎儿的DMD基因中检测到与先证者相同的缺失突变,而另1例未测到与先证者相同突变。结论MLPA能够检测出DMD基因中外显子缺失和重复突变,在临床应用上具有广阔前景。Objective To study the application of multiple ligation dependent probe amplification （MLPA） in the molecular diagnosis of Duchenne muscular dystrophy （DMD）. Methods MLPA was used in the molecular diagnosis for patients from 18 pedigrees with clinically suspected DMD, and in the prenatal molecular diagnosis for two high-risk DMD pregnancies. Results One or more exons deletion mutations were detected in 6 families with 2 cases being de novo mutations, and in 1 family exon repeat was found.In the DMD gene of one fetus deletion mutation was detected, which was the same as that of the proband, and no mutation was found in the other. Conclusion MLPA can detect one or more exons deletion and duplication in the DMD gene, and has a broad prospect in clinical application.

关 键 词：多重连接依赖性探针扩增技术 杜氏肌营养不良 突变 

分 类 号：R72[医药卫生—儿科]