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目的评价多重连接依赖式探针扩增(Multiplex ligation-dependent probe amplification,MLPA)技术对假肥大型肌营养不良症(DMD)患者进行基因诊断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22例患者进行DMD基因79个外显子拷贝数变异(缺失/重复突变)检测,同时对部分家系中孕妇携带者进行产前诊断,STR毛细管电泳连锁分析方法进行辅助诊断及验证。结果 22例患者中15例为缺失突变,4例为重复突变,3例未见拷贝数变异。14例MLPA检测结果为阳性的患者母亲中有9例为携带者。产前诊断的7例胎儿中,3例为女性胎儿携带者,3例男性正常胎儿和1例女性正常胎儿。结论 MLPA技术能准确、快速、可靠地检测DMD基因拷贝数变异(缺失或重复突变)。
Objective To evaluate the value of multiplex ligation-dependent probe amplification (MLPA) in gene diagnosis and prenatal diagnosis in patients with Duchenne muscular dystrophy (DMD). Methods MLPA technique was used to detect 79 exon copy number variation (deletion / repeat mutation) of DMD gene in 22 patients with typical phenotypes. Meanwhile, prenatal diagnosis of pregnant women in some pedigrees was carried out, and STR capillary electrophoresis linkage analysis Methods to assist diagnosis and verification. Results Of the 22 patients, 15 were deletion mutations, 4 were repeated mutations and 3 did not show copy number variation. Of the 14 mothers who tested positive for MLPA, 9 were carriers. Of the 7 prenatal diagnoses, 3 were female fetuses, 3 were male and 1 were normal fetuses. Conclusion The MLPA technique can accurately, rapidly and reliably detect the copy number variation (deletion or repeated mutation) of DMD gene.