Development of gene diagnosis system for screening of inherited metabolic disorders
| Project/Area Number |
07557167
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 試験 |
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| Research Field |
Human genetics
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| Research Institution | Tohoku University |
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Principal Investigator |
MATSUBARA Youichi Tohoku University, School of Medicine Associate Professor, 医学部, 助教授 (00209602)
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| Co-Investigator(Kenkyū-buntansha) |
HAGIWARA H Hitachi Engineering, Research Scientist, バイオ開発部門, 研究員
KURE Shigeo Tohoku University, School of Medicine Assistant Professor, 医学部, 助手 (10205221)
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| Project Period (FY) |
1995 – 1996
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| Project Status |
Completed (Fiscal Year 1996)
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| Budget Amount *help |
¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1996: ¥2,300,000 (Direct Cost: ¥2,300,000)
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| Keywords | Gene diagnosis / PCR / mass-screening / glycogen storage disease |
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| Research Abstract |
Recent advances in molecular analysis of various inherited diseases enabled DNA-based diagnosis of such disorders. However, currently used methods are cumbersome and involve labor-intensive and high-cost procedure for identifying mutations. There is high demand of a highly efficient molecular diagnostic system which is capable of detecting genetic mutations with relative ease and readily applied to clinical services. The purpose of this study is to establish such diagnostic system. We have developed a novel mutation detection technique, fluorogenic allele specific amplification (FASA) method. The FASA system consisted of allele specific PCR-amplification of either normal or mutant allele and real time detection of PCR products by a fluorogenic probe. It is capable of analyzing multiple specimens in 96-well multititer plate format and amenable to fully automated analysis. The method was successfully applied to the detection of g727t mutation in the glucose-6-phosphatase gene. The g727t was identified in the current study and found to be the most common mutation among the Japanese patients with glycogen storage disease type Ia. The method may be used for the population screening of the disease to aid pre-symptomatic identification of patients to initiate appropriate treatment. This system is also applicable to the molecular diagnosis of other single gene disorders.
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Report
(3 results)
Research Products
(29 results)
