Genotyping of exons 1 to 20 in Duchenne muscular dystrophy by universal multiplex PCR and short-end capillary electrophoresis

Jing-Rou Syu, Chun Chi Wang, Yuh-Jyh Jong, Shou-Mei Wu

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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.
Original languageEnglish
Pages (from-to)3387-3394
Number of pages8
JournalElectrophoresis
Volume35
Issue number23
DOIs
StatePublished - Dec 2014

Keywords

  • Duchenne muscular dystrophy; Genotyping; Short-end capillary electrophoresis; Universal multiplex PCR

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