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Molecular analysis of the inherited metabolic diseases---Mucopolysaccharidoses, Mitochondrial acetoacetyl-CoA thiolase deficiency and Peroxisomal diseases--

遗传代谢病的分子分析---粘多糖病、线粒体乙酰乙酰辅酶A硫解酶缺乏症和过氧化物酶体疾病--

基本信息

批准号：
05454286
负责人：
ORII Tadao
金额：
$ 4.22万
依托单位：
GIFU UNIVEERSITY
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (B)
财政年份：
1993
资助国家：
日本
起止时间：
1993 至 1994
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-05454286/
关键词：
inherited metabolic disease Mucopolysacharidoses beta-Ketothiolase deficiency Peroxisomal disease

项目摘要

1.Several mutations in MPSII IVA and VII patients have first identified. The genomic structure for GALNS gene has been determined. Molecular analysis of MPSVII patients were performed cooperatively and extensively with prof. Sly's group and 12 different mutations were identified. Nearly 100 MPSIVA patients were supplied by international cooperative study, 45 various kinds of mutations have been defined ; especialy common double gene deletion found on Japanese ancestry and common missense mutation in Caucasian ancestry were noted.2.Molecular basis of beta-ketothiolase deficiency has been analyzed in 21 patients. We will report 17 mutations and findings in 13 patients in Mutation Update, a areview article. We discovered a phenomenon that an exonic mutatioon caused the exon skipping and the result was published in J.Clin.Invest..Other findngs were reported in three papers in Hum. Mutat. and a paper in Prenatal Diagnosis. We also cloned human cDNA for cytosolic acetoacetyl-CoA thiolase with anti-human cytosolic thiolase antibody and publishied it in BBRC.3.cDAN for human peroxisomal acyl-CoA oxidase was cloned and pathogenic gene mutation was identified in siblings with acyl-CoA oxidase deficiency. Several gene nutations were identified in patients with adrenoleukodystrophy. Chromosomal localization of PAF-1, the pathogenic gene for group F Zellweger syndrome, was determined to be 8q21.1 Gene mutations were identified in 3 group F patients. A candidate gene for group C Zellweger syndrome has been cloned recently.

1.首次在MPSII IVA和VII患者中发现了几个突变。GALNS基因的基因组结构已经确定。在PROF的配合下，对MPSVII患者进行了广泛的分子分析。Sly‘s群和12个不同的突变被鉴定出来。国际合作研究提供了近100例MPSIVA患者，定义了45种突变，特别是日本血统常见的双基因缺失和高加索血统常见的错义突变。2.对21例患者进行了β-酮硫醇酶缺乏症的分子基础分析。我们将在areview的一篇文章《突变更新》中报告13名患者的17个突变和发现。我们发现了一个外显子突变导致外显子跳跃的现象，结果发表在《临床杂志》上。其他发现在《人类》杂志上有三篇论文报道。穆塔特。还有一篇关于产前诊断的论文。我们还用抗人胞浆硫解酶抗体克隆了人胞浆乙酰乙酰-辅酶A硫解酶的基因，并将其发表在BBRC.3上。克隆了人过氧体乙酰辅酶A氧化酶的cDAN，并在乙酰辅酶A氧化酶缺乏症的同胞中发现了致病基因突变。在肾上腺脑白质营养不良患者中发现了几种基因突变。F群Zellweger综合征致病基因PAF-1的染色体定位为8q21.1，在3例F群患者中发现基因突变。最近克隆了C组Zellweger综合征的候选基因。