| Project/Area Number |
13470155
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | TOHOKU UNIVERSITY |
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Principal Investigator |
MATSUBARA Yoichi TOHOKU UNIV., MEDICAL GENETICS, PROFSSOOR, 大学院・医学系研究科, 教授 (00209602)
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| Co-Investigator(Kenkyū-buntansha) |
AOKI Yoko TOHOKU UNIV., MEDICAL GENETICS, RESEARCH PROFESSOR, 大学院・医学系研究科, 助手 (80332500)
SUZUKI Yoichi TOHOKU UNIV., MEDICAL GENETICS, LECTURER, 大学院・医学系研究科, 講師 (80216457)
KURE Shigeo TOHOKU UNIV., MEDICAL GENETICS, ASSOCIATE PROFESSOR, 大学院・医学系研究科, 助教授 (10205221)
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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 |
¥16,400,000 (Direct Cost: ¥16,400,000)
Fiscal Year 2002: ¥4,300,000 (Direct Cost: ¥4,300,000)
Fiscal Year 2001: ¥12,100,000 (Direct Cost: ¥12,100,000)
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| Keywords | single gene disorders / DNA diagnosis / phenylkeonuria / glycogen storage disease / hyperglycinemia / pharmaconenetics |
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| Research Abstract |
The purpose of the current study was to establish comprehensive DNA diagnostic system for various single gene disorders. To this end, we used a novel DNA test strip method to detect previously idertified pathogenic mutations. We also used denaturing high-performance liquid chromatography (DHPLC) to scan for unknown mutations and an automatic capillary DNA sequencer to confirm mutations. The DNA test strip method, originally developed in our laboratory, utilizes competitive allele-specific short oligonucleotide hybridization coupled with immunochromatographic strip. It was used for the detection of known mutations in glycogen storage disease type Ia and Ib, non-ketotic hyperglycinemia, aldehyde dehydrogenase 2 deficiency, Tay-Sachs disease, Gaucher disease, cyctic fibrosis, familial breast cancer due to BRCA1 or BRCA2 mutations, Factor V Leiden mutation, CYP2C19 and mitochondrial A1555G mutation. We also evaluated the feasibility of DHPLC followed by sequencing analysis from clinical diagnostic point of view. The combination of the three methods would facilitate DNA diagnosis by efficiently identifying mutations.
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