| Project/Area Number |
06454307
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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 |
Pediatrics
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| Research Institution | Jichi Medical School |
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Principal Investigator |
MOMOI Mariko Jichi Medical School, Pediatrics, Professor, 医学部, 教授 (90166348)
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| Co-Investigator(Kenkyū-buntansha) |
SAITO Sugiko Jichi Medical SChool, Pediatrics, Associate, 医学部, 助手 (00260836)
ICHIHASI Kou Jichi Medical School, Pediatrics, Associate, 医学部, 助手 (70213006)
KOBAYASHI Yoko Jichi Medical School, Pediatrics, Associate, 医学部, 助手 (20245046)
OGURO Noriko Jichi Medical School, Pediatrics, Associate, 医学部, 助手 (10214107)
YAMAGTA Takanori Jichi Medical School, Pediatirics, Associate, 医学部, 助手 (00239857)
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| Project Period (FY) |
1994 – 1995
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| Project Status |
Completed (Fiscal Year 1995)
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| Budget Amount *help |
¥4,600,000 (Direct Cost: ¥4,600,000)
Fiscal Year 1995: ¥1,900,000 (Direct Cost: ¥1,900,000)
Fiscal Year 1994: ¥2,700,000 (Direct Cost: ¥2,700,000)
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| Keywords | unstable DNA / (CAG / CTG)n / fragile X syndrome A / fragile X syndrome E / fragile X syndrome / 精神遅滞 / 家族性精神遅滞 / 三塩基対反復配列 |
|---|
| Research Abstract |
1.Genes with unstable triplet repeat sequences such as (CAG/CTG)n were cloned from cDNA library of human fetal brain.
Several known and unreported genes were cloned and identified.
Homology analyzes revealed that some of the genes possibly had important roles in regulating the expression of genes in the brain. The localization of some newly identified genes were analyzed on human chromosomes by FISH analysis, which showed that some genes with unstable repeat sequences may form clusters in close range.
2.To clarify the clinical features of fragile X syndrome in Japan, mentally retarded patients with family history of developmental disorders were stuided for gene abnormalities of fragile X syndrome. In 35 families of mental redardation, none of showed expanded sequences in a gene of fragile X syndrome. This suggested that the incidence of this disease was much lower than other countries.
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