【摘 要】
：
目的：探讨多重连接依赖式探针扩增技术(Multiplex ligation-dependent probe amplification,MLPA)技术对假肥大型肌营养不良症(Duchenne/Becker muscular dystrophy,DMD/BMD)患者进行分子诊断、携带者筛查和产前诊断的应用价值.方法：应用MLPA技术对具有典型表型的18例患者进行DMD基因79个外显子的缺失或重复突变
【机 构】
：
柳州市出生缺陷预防与控制重点实验室 柳州市妇幼保健院检验科,广西柳州,545001
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目的：探讨多重连接依赖式探针扩增技术(Multiplex ligation-dependent probe amplification,MLPA)技术对假肥大型肌营养不良症(Duchenne/Becker muscular dystrophy,DMD/BMD)患者进行分子诊断、携带者筛查和产前诊断的应用价值.方法：应用MLPA技术对具有典型表型的18例患者进行DMD基因79个外显子的缺失或重复突变检测,DNA测序以及STR毛细管电泳与连锁分析方法进行验证及辅助诊断.并应用MLPA技术对家系中女性携带者进行产前诊断.结果：18例患者中检测出13例为Dystrophy基因外显子缺失,缺失突变发生率为72.2％,13例患者Dystrophy基因缺失区域各不相同,缺失外显子分别为exon3-6、exon3-7、exon3-44、exon7、exon8-44、exon42-43、exon45-50、E45-52、E46-47、E46-50、exon51-53、E52-56和exon55-56, 其中1例为单个外显子缺失；3例可见重复突变(E27-29,E45和E48-49). 16例MLPA检测阳性的患儿的母亲中有7例为携带者.产前诊断发现一例胎儿遗传了孕妇exon51-53缺失,为缺失突变携带者；另一例未遗传孕妇exon3-7的缺失；另一例也未遗传母亲的E45-50缺失突变.结论：应用MLPA技术对DMD进行分子诊断和产前诊断具有高通量、低成本和便捷的效果；MLPA是DMD这一类以缺失突变为主的遗传病行之有效的分子诊断技术,为临床遗传咨询和产前诊断提供了科学依据.
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目的：探讨二代测序(Next generation sequencing,NGS)技术检测假肥大型肌营养不良(Duchenne muscular dystrophy,DMD)患者的可行性.方法：用NGS技术检测3例DMD患者,并用Sanger测序技术对NGS技术检测结果进行验证,同时对家系其他成员的相应位点进行分析.结果：NGS技术结果表明,患者＃1为DMD基因编码区第29号外显子存在1个错义突变