Duchenne/Becker型肌营养不良分子遗传学诊断策略

中国儿童保健杂志 ›› 2013, Vol. 21 ›› Issue (7): 719-722.

Duchenne/Becker型肌营养不良分子遗传学诊断策略

陈晓春,何玺玉

安徽医科大学北京军区总医院临床学院附属八一儿童医院遗传科,安徽合肥 230032

收稿日期:2013-02-18 发布日期:2013-07-06 出版日期:2013-07-06
通讯作者: 何玺玉,E-mail::hxyjs2001@yahoo.com.cn
作者简介:陈晓春(1986-),女,山东人,安徽医科大学在读研究生,研究方向为分子遗传学。

Received:2013-02-18 Online:2013-07-06 Published:2013-07-06

摘要/Abstract

摘要： Duchenne/Becker型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种X-连锁隐性遗传性肌病,临床以进行性加重的对称性肌无力、肌萎缩,血清肌酸激酶水平增高,腓肠肌假性肥大为主要特征,临床病情轻重不一。致病基因为编码抗肌萎缩蛋白(dystrophin)基因,该基因组序列跨越2 200 kb,由79个外显子组成,是迄今发现的最大的人类基因。DMD基因突变类型复杂多样,包括单个或多个外显子缺失、基因片段重复、单个碱基互换、缺失或插入。迄今已形成多种检测技术,从Sanger测序、多重-PCR、Southern-blotting到多重链接探针依赖扩增技术(multiplex ligation probe amplification,MLPA)、单个扩增/内部引物测序技术(single condition amplification/internal primer sequencing technique,SCAIP)、基于基因芯片的比较基因组杂交(array-based comparative genomic hybridization,aCGH)、二代测序技术(next-generation sequencing,NGS)等,检测方法优缺点各异,本文结合DMD/BMD临床表现和分子遗传学检测手段就DMD/BMD的分子遗传学诊断策略进行综述,以期形成完整全面的临床诊断思路。

中图分类号:

R153.2

陈晓春,何玺玉. Duchenne/Becker型肌营养不良分子遗传学诊断策略[J]. 中国儿童保健杂志, 2013, 21(7): 719-722.

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