Gene panels and primers for next generation sequencing studies on neurodegenerative disorders

[摘要] Several types of neurodegenerative diseases were described, including Alzheimer’s disease (AD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), prion disease, and Parkinson’s disease (PD). Since the potential treatment strategies of these disorders might be more successful in the pre-clinical stages than in the actual clinical setup, new diagnostic methods were needed. The involvement of heredity in neurodegenerative disorders was established, but several neurodegenerative disorders such as AD, PD, ALS, FTD and Huntington’s disease (HD) are highly complex. Sanger sequencing was used to detect mutations that are causative or risk factors for diseases. The problem with standard sequencing is its high cost and low speed. Recently, next generation sequencing (NGS) strategies were developed, which could provide a more complex genetic analysis of patients with neurodegenerative diseases. In this study, 50 genes were selected, which were established as causative genes for neurodegenerative diseases, but we also included several risk factor genes and candidate genes. Primers (maximum 400-bp length) were designed to screen for mutations and variants in them. We plan to use these primers for NGS screening to create a more detailed genetic profile for these patients. This study could enhance disease diagnosis and would be also helpful in estimating the risk for disease onset in the future.

[学科分类] 分子生物学，细胞生物学和基因

[关键词] Mutation