| Project/Area Number |
10671610
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Jichi Medical School |
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Principal Investigator |
ISHII Kousuke (1999) Jichi Medical School, Dept. of Otolaryngology, Associate Professor, 医学部, 助教授 (30151319)
萩原 秀夫 (1998) 自治医科大学, 医学部, 助手 (20265268)
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| Co-Investigator(Kenkyū-buntansha) |
ICHIMURA Keiichi Jichi Medical School, Dept. of Otolaryngology, Professor, 医学部, 教授 (00010471)
TANAKA Hidetaka Jichi Medical School, Dept. of Otolaryngology, Associate Professor, 医学部, 助手 (50296109)
喜多村 健 自治医科大学, 医学部, 教授 (90010470)
石井 甲介 自治医科大学, 医学部, 助教授 (30151319)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1999: ¥1,200,000 (Direct Cost: ¥1,200,000)
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| Keywords | familial hearing loss / hereditary hearing loss / gene analysis / large vestibular aqueduct syndrome / Pendred syndrome / PDS gene / 遺伝性難聴 / 前庭水管拡大症候群 / Pendred症候群 / ミトコンドリア遺伝子 |
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| Research Abstract |
A recent report demonstrated the presence of a mutation in the Pendred syndrome gene (PDS) of patients with large vestibular aqueducts (LVA). We studied PDS mutation in seven members of six Japanese families, among which affected members showed LVA.
We extracted the genome DNAs from patients' blood and analyzed the sequence of the exon-regions of PDS gene. The mutation points detected were as follows; exon 4 in one family, exon 10 in two members of one family, exon 19 in three families. No mutation in the region of exon was found in one family. There remained a possibility that the mutations existed in the region of introns or promotors, but we decided that the research in that region was quite impossible because such regions corresponded to over ten thousands bases. The mutations in exon 4 and 10 were heterozygous, whereas exon 19 was both heterozygous and homozygous. The mutation in exon 4 was a newly reported mutation, and we proved that this mutation was not a polymorphism but a real mutation, analyzing genome DNAs of normal fifty persons. The mutations in exon 10 and 19 had already been reported.
A point mutation in nt.2168 (exon 19) recognized in three Japanese families, which were not related by birth. This fact suggested that nt.2168 mutation could be a "hot-spot" in Japanese LVA patients. Screening of PDS gene in LVA patients is now ongoing.
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