Identification of genes for hereditary neurological diseases by the high throughput SNP chip linkage system

高通量SNP芯片联动系统鉴定遗传性神经疾病基因

• 批准号: 20590989
• 负责人: GOTO Jun
• 金额: $ 3万
• 依托单位: The University of Tokyo
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20590989/
• 关键词: 連鎖解析; 一塩基多型(SNP); 遺伝性疾患; 遺伝子同定; SNP

We have developed SNP HiTLink which can directly import SNP chip data to linkage analysis programs including MLINK, Superlink, Merlin and Allegro. SNP genotyping and linkage analysis can be completed minimally 4 days. Results of SNP linkage mapping are similar to those obtained by microsatellites markers and to those of radiation RH mapping. A novel mutation of FLVCR1 was identified in a Japanese family accompanying with posterior column ataxia with retinitis pigmentosa. Clinical implementation is also useful to improve genetic diagnosis.

我们开发了SNP HiTLink，可以直接将SNP芯片数据导入MLINK，Superlink，Merlin和Allegro等连锁分析程序。SNP基因分型和连锁分析至少可在4天内完成。SNP连锁图谱的结果与微卫星标记和辐射RH图谱的结果相似。在一个伴有视网膜色素变性的后柱共济失调的日本家族中发现了一种新的FLVCR 1突变。临床实施也有助于改善遗传诊断。

项目成果

Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines

• DOI: 10.1016/j.ajhg.2010.06.006
• 发表时间: 2010-07-09
• 期刊: AMERICAN JOURNAL OF HUMAN GENETICS
• 影响因子: 9.8
• 作者: Mitsui, Jun;Takahashi, Yuji;Tsuji, Shoji
• 通讯作者: Tsuji, Shoji

Clinical features of spinocerebellar ataxia type 31 in Japanese population.

日本人群脊髓小脑共济失调 31 型的临床特征。

• 发表时间: 2010
• 作者: Ichikawa Y;(4名略);Goto J
• 通讯作者: Goto J

A case-control study focusing on rare variants obtained by comprehensive resequencing of the causative genes for familial amyotrophic lateral sclerosis (ALS) to identify disease-relevant alleles for sporadic ALS.

一项病例对照研究，重点关注通过对家族性肌萎缩侧索硬化症 (ALS) 致病基因进行全面重测序而获得的罕见变异，以确定散发性 ALS 的疾病相关等位基因。

• 发表时间: 2010
• 作者: Takahashi Y;Goto J;Toyoda A;Fujiyama A;Tsuji S
• 通讯作者: Tsuji S

Mutational analysis FUS/TLS in familial and sporadic amyotrophic lateral sclrerosis in the Japanese population.

日本人群家族性和散发性肌萎缩侧索硬化症的 FUS/TLS 突变分析。

• 发表时间: 2009
• 作者: Takahashi Y;Goto J;Tsuji S
• 通讯作者: Tsuji S

Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease

• DOI: 10.1001/archneurol.2009.72
• 发表时间: 2009-05-01
• 期刊: ARCHIVES OF NEUROLOGY
• 作者: Mitsui, Jun;Mizuta, Ikuko;Tsuji, Shoji
• 通讯作者: Tsuji, Shoji