1995 Fiscal Year Final Research Report Summary
Development of the methods of the detection of unstable DNA sequences of genes in pediatric neurological disorders.
| Project/Area Number |
06557048
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| Research Category |
Grant-in-Aid for Developmental 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)
KOBAYASI 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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| Keywords | unstable DNA / (CAG / CTG)n / fragile X syndrome A / fragile X syndrome E / fragile X syndrome |
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| Research Abstract |
1.The direct detection of the expansion of the unstable gene suquences using ligation and PCR failed to detect expanded DNA fragment in blood cells of patients with myotonic dystrophy and DRPLA.This indicated that the detection of expanded DNA sequences had to use specific nucleotides as primers rather than nonspecific tripret repeaat sequences. We applied LA-PCR method in detecting expanded DNA fragments in diseases describedabove, and the results were satisfactory.
2.To detect new expanded gene sequences as the cause of the neurological disorders, genes with unstable triplet repeat sequences were cloned from human brain cDNA library. cloned cDNA and genes were analyzed for their sequences and localization on human chromosomes. the l ; ocalizatin in the brain was analyzed by in situ hybridizatin method to suggest the possible relation with the neurological disorders.
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