Liu Yong-Mei, Feng Zhi-Chun, Fang Zhen-Wei
Department of Pediatrics, Zhujiang Hospital, First Military Medical University, Guangzhou 510282, China.
Di Yi Jun Yi Da Xue Xue Bao. 2002 Aug;22(8):731-3.
To study the application of PCR technique in genetic detection of Duchenne/Becker muscular dystrophy (DMD/BMD).
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.
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.
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.
研究聚合酶链反应（PCR）技术在杜氏/贝克型肌营养不良症（DMD/BMD）基因检测中的应用。
根据DMD/BMD外显子缺失的多个位点建立多重PCR系统。在不同的PCR条件下，对23例DMD/BMD患者和57例这些基因的疑似携带者进行了多个外显子缺失、单链构象多态性、异源多倍体、链标记、限制性片段长度多态性和微卫星现象检测。
23例DMD/BMD患者中有14例被鉴定为基因缺失，另外2例携带基因重复。这23例DMD/BMD患者的40名女性亲属被诊断为基因携带者。
该PCR系统可用于检测DMD/BMD的基因突变，筛查携带者，并对DMD/BMD患者进行适当的系谱分析。
