第51回日本神経学会総会
＜シンポジウム14―3＞神経ゲノミクスの最先端
神経筋疾患解明のための大規模シークエンシング
石浦 浩之, 辻 省次
東京大学神経内科〔〒113―8655 東京都文京区本郷7―3―1〕
Molecular genetic studies, positional cloning in particular, contributed to progresses in neurology. However, because of a bottleneck of low sequence analysis throughput, large proportions of small families, especially of lateonset hereditary diseases, still remain to be elucidated. The massively parallel sequencers are expected to identify causative genes in such a small but meaningful families and to reveal pathophysiology of the diseases. Multiple system atrophy (MSA) is a neurodegenerative disorder. Pathophysiology of MSA remains largely uncertain despite many studies. Generally, MSA is a sporadic disorder, but there are rare familial aggregations which would provide a strong clue to understand pathophysiology of MSA. With the backgrounds, we analyzed an MSA family with 2 pathologically proven siblings born with consanguineous parents. Linkage study revealed a candidate 70Mb regions in four chromosomes. We carried out wholegenome resequencing of the proband using Illumina GAIIx. Mean depth was 58X, and a total of 3.5 million single nucleotide variations were found. Although the new technologies are highly powerful, to find a mutation from a number of variations, a challenge with bioinformatics should be overcome. Coping with the problem, the high-throughput sequence technologies will further contribute to a breakthrough in neurology.
Full Text of this Article in Japanese PDF (176K)
(臨床神経, 50：957−958, 2010)
key words：大規模シークエンス，全ゲノム配列解析，多系統萎縮症
（受付日：2010年5月22日）
