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. MJD 1剪接变体的克隆和表征。(1) .我们从人淋巴细胞中克隆了MJD 1基因mRNA的两个剪接变体。这些是先前未描述的新型MJD 1 mRNA变体。(2) .选择性剪接变体MJD 1d在CAG重复序列之前含有54 bp插入片段。（三）、选择性剪接的变体MJD 1 e含有在框中具有终止密码子的87 bp插入物。与神经精神疾病相关的三重重复序列cDNA片段的分子克隆从大脑皮层中分离到几个三重重复序列cDNA片段。DNA序列测定和GenBank计算机数据库检索表明，这些克隆均为新分子.包含基因产物的三联体重复序列的表征：建立双杂交系统，该系统将用于表征CAPDH或Hap-1与包含基因产物的三联体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。”