摘要
目的对一例假肥大型肌营养不良(DMD/BMD)患儿发生的DMD基因突变(c.9760_9781dup22/p.Pro3261LeufsX5)进行报道,并对其临床表现进行分析。方法联合应用多重连接探针扩增技术(MLPA)和基因测序技术的方法,对DMD患儿进行DMD基因分析。结果 MLPA技术检测到患儿DMD基因67号外显子发生缺失突变,通过PCR技术、基因测序技术检测,证实患儿发生的是67号外显子的微小突变(c.9760_9781dup22/p.Pro3261LeufsX5)。结论 67号外显子的微小突变(c.9760_9781dup22/p.Pro3261LeufsX5)是一种新突变,此突变可能与DMD疾病发生及智力障碍表现相关。
Objective To report a DMD gene new mutation (c.9760_9781dup22/p.Pro3261LeufsX5) in a DMD children,and analyze his clinical manifestations.Methods Combining of MLPA and gene sequencing methods,we analyzed the DMD gene.Results The MLPA result showed that DMD gene exon 67 existed a diminutive mutation,and we used PCR and gene sequencing to confirm it,and find it to be a new mutation(c.9760_9781dup22/p.Pro3261LeufsX5)in DMD gene exon 67. Conclusions The mutation(c.9760_9781dup22/p.Pro3261LeufsX5) in DMD gene exon 67 is a new mutation,and this mutation is relevant to the DMD symptom and mental retardation.
出处
《中华临床医师杂志（电子版）》
CAS
2011年第19期5699-5703,共5页
Chinese Journal of Clinicians(Electronic Edition)
关键词
肌营养不良
杜氏
DMD基因
多重连接探针扩增技术
基因测序
Muscular dystrophy,Duchenne
DMD gene
Multiplex ligation dependent probe amplification
Gene sequencing
