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

舞蹈病-棘细胞增多症（CHAC）是一种常染色体隐性神经退行性疾病，以严重的不自主运动、精神障碍和外周血棘细胞增多症为特征。最近，我们在染色体9q21-22上发现了由70多个外显子组成的CHAC基因，并在3个日本血统家系的4例CHAC患者的两个等位基因中发现了5937 bp的缺失突变。一些义务携带者有主要的精神表现，据报道该区域与家族性肌萎缩性侧索硬化症伴额颞叶痴呆有关。因此我们计划对CHAC基因与精神分裂症、心境障碍、阿尔茨海默病、额颞叶痴呆等精神障碍进行遗传研究。在相关性研究中，我们发现CHAC基因69外显子存在GAT三联体重复型多态性。我们对5937 bp的缺失突变和这种新的多态性进行了遗传关联分析。虽然有两名心境障碍患者杂合有一个5,937 bp CHAC缺失，但我们没有发现它们之间有任何意义。

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.