| Project/Area Number |
03454501
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | University of Tokyo (1992-1993)
National Research Institute for Child Health and Development (1991) |
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Principal Investigator |
NAKAGOME Yasuo UNIVERSITY OF TOKYO SCHOOL OF INTERNATIONAL HEALTH, DEPARTMENT OF HUMAN GENETICS, PROFESSOR, 医学部(医), 教授 (30000235)
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| Co-Investigator(Kenkyū-buntansha) |
NAKAHORI Yutaka UNIVERSITY OF TOKYO SCHOOL OF INTERNATIONAL HEALTH, DEPARTMENT OF HUMAN GENETICS, 医学部(医), 助教授 (10172389)
永渕 成夫 国立小児病院小児医療研究センター, 先天異常研究部, 研究員
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| Project Period (FY) |
1991 – 1993
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| Project Status |
Completed (Fiscal Year 1993)
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| Budget Amount *help |
¥6,300,000 (Direct Cost: ¥6,300,000)
Fiscal Year 1993: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1992: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1991: ¥3,400,000 (Direct Cost: ¥3,400,000)
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| Keywords | amelogenesis imperfecta / amelogenin / tooth / tooth enamel / sex linked trait / XY homologous region / PCR / DNA diagnosis / 外胚葉形成不全 / エナメル質形成不全 / DNA解析 |
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| Research Abstract |
A gene was cloned form the proximal short arm of the human Y chromosome. Later, a homologous gene was cloned from the distal short arm of the X chromosome. Both genes were sequenced for about 2.8kb and 3 exons were identified in both of them. The exones of both genes showed about 93% sequence homology. It was later identified that they were amelogenin gene on X and amelogenin-like gene on Y.
Studies of families with amelogenesis imperfecta revealed that in a large family with sex-linked amelogenesis imperfecta, all the affected members showed a 5kb deletion of the amelogenin gene involving all the 3 exones. The results definitely showed that sex-linked amelogenesis imperfecta was caused by the abnormality of the amelogenin gene. None of autosomal recessive or autosomal dominant families showed abnormality of the amelogenin gene.
The amelogenin-like gene on Yp had an about 180bp deletion within an intron. A set of primers was designated which enabled a simultaneous detection of both X and Y sequences by PCR.The technique much improved the reliability of the sec determination by PCR.
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