【摘 要】
：
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
【机 构】
：
柳州市出生缺陷预防与控制重点实验室,广西,柳州545001;柳州市妇幼保健院检验科,广西,柳州545001
论文部分内容阅读
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c.4071G＞C(p.Leu1357Asp),为已报道的致病突变；Sanger测序技术进一步证实了该点突变的存在,在家系中发现其表舅为患者,其母亲和小姨为该突变的携带者,其父亲和妹妹未携带该突变.患者＃2第66号外显子存在1个无义突变c.9776C＞T(p.Arg3190X),为已报道的致病性突变；Sanger测序技术进一步证实了该点突变的存在,并在该家系中发现患者母亲为该突变的携带者.患者＃3第21号外显子存在1个无义突变c.2665C＞T(p.R889X),为已报道的致病性突变；Sanger测序技术进一步证实了该点突变的存在,并在该家系中发现患者母亲为该突变的携带者.结论：目前DMD的分子诊断技术以检测Dystrophin基因缺失突变为主,非缺失突变是Dystrophin基因的检测难点.二代测序技术具有高通量的特点,可同时检测缺失和非缺失型突变,对新突变(缺失型和非缺失型)的检测有效,可作为DMD分子诊断的新技术,为DMD临床遗传咨询和产前诊断提供科学依据.
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