权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

The molecular biological study of the CHAC gene as a novel senile gene.

CHAC基因作为一种新型老年基因的分子生物学研究。

基本信息

批准号：
13557078
负责人：
UENO Shu-ichi
金额：
$ 3.33万
依托单位：
The University of Tokushima (2002)Ehime University (2001)
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2001
资助国家：
日本
起止时间：
2001 至 2002
项目状态：
已结题

项目摘要

Chorea-acanthocytosis (CHAC) is an autosomal recessive neurodegenerative disorder characterized by the severe involuntary movement, mental disorders and the peripheral red blood cell acanthocytosis. Recently, we identified the CHAC gene comprised of over 70 exons on chromosome 9q21-22 and found a 5,937 bp deletion mutation in both alleles of four CHAC patients in three pedigrees from Japanese origin. Some of the obligated carriers had a predominant psychiatric manifestations and this region was reported to be linked to familial amyotrophic lateral sclerosis with front-temporal dementia. So we planed to perform the genetic study between CHAC gene and mental disorders including schizophrenia, mood disorder, Alzheimer disease and front-temporal dementia. For the association study, we found GAT triplet repeat type polymorphism in exon 69 of CHAC gene. We performed the genetic association analysis with both a 5,937 bp deletion mutation and this novel polymorphism. We could not find any significance between them, although there were two mood disorder patients who heterozygously had one 5,937 bp CHAC deletion.

舞蹈病棘红细胞增多症（Chorea-acanthocytosis，CHAC）是一种以严重不自主运动、精神障碍和外周血红细胞棘红细胞增多为特征的常染色体隐性遗传性神经退行性疾病。最近，我们鉴定了CHAC基因，该基因由染色体9 q21 -22上的70多个外显子组成，并在来自日本的三个家系中的四名CHAC患者的两个等位基因中发现了5，937 bp的缺失突变。一些义务承运人有一个主要的精神表现，这一地区被报道与家族性肌萎缩侧索硬化症与前颞叶痴呆。因此，本研究拟对CHAC基因与精神分裂症、心境障碍、阿尔茨海默病、前颞叶痴呆等精神疾病的关系进行遗传学研究。在CHAC基因第69外显子中发现GAT三联重复多态性。我们进行了5,937 bp的缺失突变和这种新的多态性的遗传关联分析。虽然有两名心境障碍患者有一个5,937 bp的CHAC缺失，但我们没有发现他们之间的任何意义。