標題: Genotyping of exons 1 to 20 in Duchenne muscular dystrophy by universal multiplex PCR and short-end capillary electrophoresis
作者: Syu, Jing-Rou
Wang, Chun-Chi
Jong, Yuh-Jyh
Wu, Shou-Mei
生物科技學院
College of Biological Science and Technology
關鍵字: Duchenne muscular dystrophy;Genotyping;Short-end capillary electrophoresis;Universal multiplex PCR
公開日期: 1-十二月-2014
摘要: One rapid CE method was established to diagnose Duchenne muscular dystrophy (DMD). DMD is a severe recessive inherited disorder frequently caused by gene deletions. Among them, exons 1-20 account for nearly 30% of occurrences. In this study, the universal multiplex PCR was used to enhance the fluorescently labeling efficiency, which was performed only by one universal fluorescent primer. After PCR, a short-end injection CE (short-end CE) speeded up the genotyping of the DMD gene. This method involved no extra purification, and was completed within 9 min. The CE conditions contained a polymer solution of 1.5% hydroxylethylcellulose in 1 x TBE buffer at 6 kV for separation. This method was applied to test six DMD patients and one healthy male person. The results showed good agreement with those of multiplex ligation-dependent probe amplification. This method can be applied for clinical diagnosis of DMD disease. Accurate diagnosis of the DMD gene is the best way to prevent the disease.
URI: http://dx.doi.org/10.1002/elps.201400172
http://hdl.handle.net/11536/124104
ISSN: 0173-0835
DOI: 10.1002/elps.201400172
期刊: ELECTROPHORESIS
Volume: 35
Issue: 23
起始頁: 3387
結束頁: 3394
顯示於類別:期刊論文


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