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Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing
Authors:Xie Shuqi  Lan Zhangzhang  Qu Ning  Wei Xiaoming  Yu Ping  Zhu Qian  Yang Guanghui  Wang Jinming  Shi Quan  Wang Wei  Yang Ling  Yi Xin
Institution:Beijing Genomics Institute at Shenzhen, Shenzhen 518083, China.
Abstract:Dystrophin (DMD) gene is the largest gene containing 79 exons involving various mutation types and regions, and targeted next-generation sequencing (NGS) was employed in detecting DMD gene mutation in the present study. A literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has been reported as Duchenne Muscular Dystrophy (DMD)-causing mutation was found in our two patients, the proband and his cousin. In the present study two main methods were used, the next-generation sequencing and the classic Sanger sequencing. The exon capture followed by HiSeq2000 sequencing was specifically used in this study. Combined applications of the next-generation sequencing platform and bioinformatics are proved to be effective methods for DMD diagnosis.
Keywords:NGS  next-generation sequencing  DMD  Duchenne Muscular Dystrophy  DMD gene  dystrophin gene
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