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Personal Genome Research and Neurological Diseases: Overview Tatsushi Toda 1 1Division of Neurology, Kobe University Graduate School of Medicine Keyword: GWAS , rare variant , next-generation sequencer , neurological disease , personal genome pp.227-234
Published Date 2013/3/1
DOI https://doi.org/10.11477/mf.1416101432
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Abstract

 Neurological diseases include those caused by a single defective gene,e.g., Huntington's disease, other polyglutamine diseases, and muscular dystrophies, and those that are mostly sporadic but rarely show Mendelian inheritance in some families, e.g., Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and epilepsy. The latter diseases are considered polygenic disorders. Both sporadic and Mendelian cases of these diseases are believed to share some common pathological mechanisms. Since the detection of causal genes for the Mendelian cases, studies have been initiated on disease pathology. SNPs and rare gene variants play important roles in common neurological diseases. From a technological perspective, next-generation sequencers have become widely available and have contributed to the advancement of research based on individual genome sequences (personal genome). This paper presents an overview, as well as a historical context, of the contribution of personal genome research to neurological disease studies.


Copyright © 2013, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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