Mutation analysis of patients with neurodegenerative disorders using NeuroX array
作者： Mahdi Ghani , Anthony E Lang , Lorne Zinman , Benedetta Nacmias , Sandro Sorbi
DOI: 10.1016/J.NEUROBIOLAGING.2014.07.038
关键词:
摘要: Genetic analyses of patients with neurodegenerative disorders have identified multiple genes that need to be investigated for the presence damaging variants. However, mutation analysis by Sanger sequencing is costly and time consuming. We tested utility a recently designed semi-custom genome-wide array (NeuroX; Illumina, Inc) tailored study diseases (e.g., screening). 192 4 different rare variations in 77 implicated these diseases. Several causative mutations were confirmed sequencing, including PSEN1 p.M233T responsible Alzheimer's disease large Italian family, as well SOD1 p.A4V p.I113T amyotrophic lateral sclerosis. In total, we 78 potentially variants (frequency <1%), ABCA7 p.L400V family LRRK2 p.R1514Q 6 98 Parkinson's (6.1%). conclusion, NeuroX appears helpful rapid accurate screening, although further development may still required improve some current caveats.
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