| Project/Area Number |
13670821
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Sapporo Medical University |
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Principal Investigator |
TACHI Nobutada Sapporo Medical University, School of Health Sciences, Assistant Professor, 保健医療学部, 助教授 (80136944)
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| Co-Investigator(Kenkyū-buntansha) |
KOZUKA Naoki Sapporo Medical University, School of Health Sciences, Assistant Professor, 保健医療学部, 助教授 (90225459)
YAMASHITA Tosiharu Sapporo Medical University, School of Medicine, Assistant Professor, 医学部, 助教授 (50167706)
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| Project Period (FY) |
2001 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2002: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2001: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Keywords | EOCA-HA / AOA / Aprataxin gene / FLJ20157 / AOA1 gene |
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| Research Abstract |
Early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) in Japan and autosomal recessive trait of cerebellar ataxia with ocular aparaxia (AOA) in Portugal are clinically and genetically allelelic disorders. Candidate gene of those disorders are located at chromosome 9pl3.3 by homozygous mapping. Its candidate gene was called "Aprataxin". The human aparataxin gene was about 10 kb length and its cDNA was 2.2kb length with 7 exons. The long transcript was constituted with 342 amino acids and the short form was constiyuted with 168 by alternative splicing in exon 3. The mutation of aprataxin gene in EOCA-HA showed most of 689 insertion T homozygously, and small number of compound heterozygote of 689 insertion T and 617C-T. Present our 5 cases had all 689 insertion T homozygously. Based on those observations, 689 insertion T was founder in Japanese EOCA-HA patients.
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