【摘要】 在过去10年中,下一代测序技术(next generation sequencing,NGS)得到了十分迅速的发展。与传统测序相比,NGS具有高通量和高灵敏性等优点。孟德尔型运动障碍是一类常见的神经疾病。由于样本较少等原因,通过连锁分析等传统方法寻找新的孟德尔型运动障碍尤其是罕见疾病的致病基因已经变得越来越困难,而NGS则可作为发现新的致病基因的理想手段。目前NGS已被应用于多种孟德尔型运动障碍的研究。本文将从基因组和转录组的角度对NGS在孟德尔型运动障碍中的最新应用进行综述,并展望NGS在罕见孟德尔型疾病中的应用。更多还原

【Abstract】 Next generation sequencing(NGS) has developed very rapidly in the last decade. Compared with Sanger sequencing, NGS has the advantages of high sensitivity and high throughput. Movement disorders are a common type of neurological disease. Although traditional linkage analysis has become a standard method to identify the pathogenic genes in diseases, it is getting difficult to find new pathogenic genes in rare Mendelian disorders, such as movement disorders, due to a lack of appropriate families with high penetrance or enough aff ected individuals. Th us, NGS is an ideal approach to identify the causal alleles for inherited disorders. NGS is used to identify genes in several diseases and new mutant sites in Mendelian movement disorders. Th is article reviewed the recent progress in NGS and the use of NGS in Mendelian movement disorders from genome sequencing and transcriptome sequencing. A perspective on how NGS could be employed in rare Mendelian disorders is also provided.更多还原