Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing

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• 作者：Shuqi Xie^a ; Zhangzhang Lan^a ; Ning Qu^a ; Xiaoming Wei^a ; Ping Yu^b ; Qian Zhu^a ; Guanghui Yang^a ; Jinming Wang^a ; Quan Shi^a ; Wei Wang^a ; Ling Yang^a ; Xin Yi^a ; ^{yix@genomics.org.cn}
• 关键词：NGS ; next-generation sequencing ; DMD ; Duchenne Muscular Dystrophy ; DMD gene ; dystrophin gene
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：10 May, 2012
• 卷：499
• 期：1
• 页码：139-142
• 文件大小：600 K

摘要

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, ) 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.