应用PCR技术检测假肥大型肌营养不良

目的：应用PCR技术检测假肥大型肌营养不良（DMD／BMD）基因缺失和杂合子，方法：根据DMD／BMD外显子缺失的多发位点，建立一个多重PCR体系，在不同的PCR条件下对23例DMD／BMD的患者及其家系57名可疑女性携带者进行多重缺失的筛选，单链构象多态性（SSCP）／异源双链分析，连锁标记分析，限制性片段长度多态性（RFLPs)分析及微卫星分析。结果；23例先证者中有14例为基因缺失，2例为基因重复，40例家系中女性亲属为杂合剂，结论：利用此PCR体系，可准确地检测出DMD／BMD的基因突变，可靠地筛选携带者并 对其家系进行正确的分析。

Application of PCR technique in genetic diagnosis of Duchenne/Becker muscular dystrophy]

OBJECTIVE: To study the application of PCR technique in genetic detection of Duchenne/Becker muscular dystrophy (DMD/BMD). METHODS: A multiple PCR system is established according to the multiple sites of DMD/BMD exon deletion. Under different PCR conditions, multiple exon deletions, single-strand conformation polymorphism, allopolyploid, chain labeling, restriction fragment length polymorphism and microsatellite phenomenon were examined in 23 DMD/BMD patients and 57 suspected carriers of these genes. RESULTS: Fourteen of the 23 DMD/BMD patients were identified as having gene deletion, with another 2 carried gene duplicates. Forty female relatives of these 23 DMD/BMD patients were diagnosed as carriers of the genes. CONCLUSION: This PCR system can be applied in detecting gene mutation of DMD/BMD, screening the carriers and in appropriate genealogical analysis of the patients with DMD/BMD.