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Gene panels and primers for next generation sequencing studies on
neurodegenerative disorders
Vo Van Giau 1, Seong Soo A. An1, Eva Bagyinszky1, SangYun Kim2
(1) Department of Bionano Techonology, Gachon Medical Research Institute, Gachon
University
(2) Department of Neurology, Seoul National University College of Medicine &
Neurocognitive Behavior Center, Seoul National University Bundang Hospital
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.
Keywords: Dementia, NGS, Gene panel, Mutation