应用PCR技术检测假肥大型肌营养不良  

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

作　　者：刘咏梅[1] 封志纯[1] 方振伟[2] 

机构地区：[1]第一军医大学珠江医院儿科,广东广州510282 [2]第一军医大学生化教研室,广东广州510515

出　　处：《第一军医大学学报》2002年第8期731-733,共3页Journal of First Military Medical University

摘　　要：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型。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。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.

关 键 词：肌营养障碍 分子生物学 基因诊断 PCR技术 

分 类 号：R746.2[医药卫生—神经病学与精神病学]