Analysie of unstable suquences of genes in mental disorders.

精神疾病中基因不稳定序列的分析。

• 批准号: 06454307
• 负责人: MOMOI Mariko
• 金额: $ 2.94万
• 依托单位: Jichi Medical School
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (B)
• 财政年份: 1994
• 资助国家: 日本
• 起止时间: 1994 至 1995
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-06454307/
• 关键词: unstable DNA; (CAG; CTG)n; fragile X syndrome A; fragile X syndrome E; fragile X syndrome; 精神遅滞; 家族性精神遅滞; 三塩基対反復配列

1.Genes with unstable triplet repeat sequences such as (CAG/CTG)n were cloned from cDNA library of human fetal brain.Several known and unreported genes were cloned and identified.Homology analyzes revealed that some of the genes possibly had important roles in regulating the expression of genes in the brain. The localization of some newly identified genes were analyzed on human chromosomes by FISH analysis, which showed that some genes with unstable repeat sequences may form clusters in close range.2.To clarify the clinical features of fragile X syndrome in Japan, mentally retarded patients with family history of developmental disorders were stuided for gene abnormalities of fragile X syndrome. In 35 families of mental redardation, none of showed expanded sequences in a gene of fragile X syndrome. This suggested that the incidence of this disease was much lower than other countries.

1.从人胎脑cDNA文库中克隆了(CAG/CTG)n等不稳定三联体重复序列的基因，克隆并鉴定了多个已知和未报道的基因。同源性分析表明，其中一些基因可能具有重要的调控作用基因在大脑中的表达。通过FISH分析对一些新发现的基因在人类染色体上的定位进行了分析，结果表明一些重复序列不稳定的基因可能在近距离形成簇。2.为了阐明日本脆性X综合征的临床特征，智力障碍患者研究了发育障碍家族史以发现脆性 X 综合征的基因异常。在 35 个精神迟钝家族中，没有一个家族显示出脆性 X 综合征基因的扩展序列。这表明该病的发病率远低于其他国家。

项目成果

Psuri T,Yamagata T,Suwa K,Momoi MY.: "Screening for fragile X syndrome in fanilial mental retrudation" Pediatric Neurology. (in press). (1997)

Psuri T，Yamagata T，Suwa K，Momoi MY.：“儿童精神退缩中脆性 X 综合征的筛查”儿科神经病学。

Mori M. Yamagata T, Momoi M: "Elastin fiber degeneration in costllo syndrome." American Gournal of Medical Genetics. (in press). (1996)

Mori M. Yamagata T，Momoi M：“肋骨综合征中的弹性蛋白纤维变性。”

Mori M,Yamagata T,Mori Y,Nobubi M,Saito K,Furusuno Y,Momoi MY: "Elasticfiber Degeneration in Costello Syndrome" American Journal of Medical Genetics. 61. 304-309 (1996)

Mori M，Yamagata T，Mori Y，Nobubi M，Saito K，Furusuno Y，Momoi MY：“科斯特洛综合征中的弹性纤维变性”美国医学遗传学杂志。

Murasa T,Khorobu Y,Tsurakhara T,Momoi MY,Kimuta I,Momoi T: "Wortmannin enhances cpp-32-like activity during neuronal differentiation of P19EC cells" Biiochem.Biophys.Res.Commun. (in press). (1997)

Murasa T、Khorobu Y、Tsurakhara T、Momoi MY、Kimuta I、Momoi T：“渥曼青霉素增强 P19EC 细胞神经元分化过程中的 cpp-32 样活性”Biiochem.Biophys.Res.Commun。