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目的探讨多重连接依赖探针扩增(Multiplex ligation-dependent probe amplification,MLPA)技术对假肥大型肌营养不良(DMD)患者及携带者基因检测的临床应用价值,为进一步创建可靠的DMD产前诊断技术平台奠定基础。方法选择2010年至2011年在解放军四六三医院就诊的45例DMD患者和5例BMD患者,运用MLPA技术对患者的DMD基因的缺失/重复突变进行突变筛查,同时对20例有基因缺失先症者的姐妹或母亲进行DMD基因缺失携带者筛查。结果50例患者中30例患者有外显子缺失,3例有外显子重复,其中20例外显子缺失的患者中10例其姐妹或母亲为缺失携带者。结论 MLPA是一种快速、准确、简便检测缺失及重复突变的方法,同时可以对携带者进行诊断,是一种高效的遗传病基因诊断手段。
Objective To investigate the clinical value of multiplex ligation-dependent probe amplification (MLPA) in genetic testing of patients with Duchenne muscular dystrophy (DMD) and its carriers. To establish a reliable prenatal diagnosis of DMD Technology platform to lay the foundation. Methods 45 cases of DMD patients and 5 cases of BMD patients who visited the 463 Hospital of PLA from 2010 to 2011 were enrolled in this study. MLPA technique was used to screen for mutations of DMD gene deletion mutation in 20 patients. Meanwhile, 20 patients with gene deletion First siblings or mothers DMD gene deletion carrier screening. RESULTS: Out of 50 patients, 30 had exon deletions and 3 had exon repeats. Of the 20 exon deletions, 10 had their sisters or mothers missing carriers. Conclusions MLPA is a rapid, accurate and simple method for detection of deletion and repeated mutations. At the same time, MLPA can diagnose carriers and is an efficient genetic diagnostic tool for genetic diseases.