RESEARCH ON PSYCHIATRIC DISEASE AND TRINUCLEOTIDE REPEATS.

1.MJDl剪接变异体的克隆与鉴定(1)。我们从人淋巴细胞中克隆了MJD1基因的两个剪接变异体。这些是以前没有描述过的新的MJD1mRNA变异体。另一种剪接变异体MJD1d在CAG重复序列之前含有54bp的插入片段。另一种剪接变异体MJD1e包含87bp的插入片段，在框架2中具有终止密码子。含有神经精神疾病相关基因片段的三重重复序列的分子克隆从大脑皮层分离到几个含有三重重复序列的基因片段。DNA测序和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特征。双杂交系统的建立将被用来表征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。

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.