RESEARCH ON PSYCHIATRIC DISEASE AND TRINUCLEOTIDE REPEATS.

精神疾病和三核苷酸重复的研究。

• 批准号: 07671084
• 负责人: IKEDA Masaaki
• 金额: $ 1.47万
• 依托单位: SAITAMA MEDICAL SCHOOL
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1995
• 资助国家: 日本
• 起止时间: 1995 至 1996
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-07671084/
• 关键词: TRIPLET REPEAT; CLONING; NEUROPSYCHIATRIC DISEASE; ANTICIPATION; PCR; REARRANGEMENT; MJD; SPLICE VARIANT; 精神分裂病; 躁鬱病; Machado-Joseph病; Onticipation; anticipation

1.Cloning and characterization of MJDl splice variants.(1) . We cloned two splice variants of MJD1 gene mRNA from human lymphocytes. These are novel MJD1 mRNA variants that has not been previously described.(2) . An alternatively spliced variant MJD1d contains an 54 bp insert just before the CAG repeat.(3 ). An alternatively spliced variant MJD1e contains an 87 bp insert having a termination codon in frame.2. Molecular cloning of triplet repeats containing cDNA fragment associated with neuropsychiatric diseases.Several cDNA fragments containing triplet repeats were isolated from cerebral cortex. DNA sequencing and computer data base searches of GenBank demonstrated that these clones were novel molecules.3. Characterization of triplet repeats containing gene products.Establishment of the two-hybrid system that would be utilized to characterize the interaction between CAPDH or Hap-1 and triplet repeats containing gene products.

1. MJDL剪接变体的克隆和表征。（1）。我们克隆了来自人类淋巴细胞的MJD1基因mRNA的两个剪接变体。这些是先前尚未描述的新型MJD1 mRNA变体。（2）。剪接的变体MJD1D在CAG重复之前包含54 bp插入物。（3）。或者剪接的变体MJD1E包含一个87 bp插入物，在框架中具有终止密码子。2。从脑皮质中分离出包含与神经精神病的cDNA片段的三重cDNA片段的分子克隆。几个包含三重态重复​​的cDNA片段。 GenBank的DNA测序和计算机数据库搜索表明，这些克隆是新分子。3。含有基因产物的三胞胎重复的表征。建立两种杂交系统，该系统将用于表征CAPDH或HAP-1与包含基因产物的三重态重复​​序列之间的相互作用。

项目成果

Kaneko A,Narabayashi Y,Itokawa K,Nakazato Y,Hosokawa T,Iwasaki S,Ohano R,Hamaguchi K,lkeda M,Nomura M.: "A case of Machado-Joseph disease presenting with spastic paraparesis." J Neurol Neurosurg Psychiatry. 62 (5). 542-543 (1997)

Kaneko A、Narabayashi Y、Itokawa K、Nakazato Y、Hosokawa T、Iwasaki S、Ohano R、Hamaguchi K、lkeda M、Nomura M.：“一例伴有痉挛性截瘫的马查多-约瑟夫病。”

Kaneko A: "A case of Machado-Joseph disease presenting with spastic paraparesis." J Neurol Neurosurg Psychiatry. 62. 542-543 (1997)

Kaneko A：“一例马查多-约瑟夫病，表现为痉挛性下肢轻瘫。”