| Project/Area Number |
12557034
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 展開研究 |
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| Research Field |
Hygiene
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| Research Institution | KYOTO UNIVERSITY |
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Principal Investigator |
KOIZUMI Akio Kyoto. Univ., Medicine, Professor, 医学研究科, 教授 (50124574)
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| Co-Investigator(Kenkyū-buntansha) |
YOSHINAGA Takeo Kyoto. Univ., Medicine, Associate Prof., 医学研究科, 助教授 (30025663)
塩谷 隆信 秋田大学, 医療技術短期大学, 教授 (90170852)
山田 祐一郎 京都大学, 医学研究科, 助教授 (60283610)
和田 安彦 兵庫医科大学, 助教授 (10261653)
大浦 敏博 東北大学, 大学院・医学研究科, 助教授 (10176828)
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| Project Period (FY) |
2000 – 2001
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| Project Status |
Completed (Fiscal Year 2001)
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| Budget Amount *help |
¥13,500,000 (Direct Cost: ¥13,500,000)
Fiscal Year 2001: ¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2000: ¥10,100,000 (Direct Cost: ¥10,100,000)
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| Keywords | epidemiological genetic / diseases genetic / nonrandom mating / genetic drifts / bottle neck / recessive / isolation / proteomics / 集団的遺伝学 / 遺伝性疾患 / 社会的隔離 / 地理的隔離 / 創始者変異 / 糖尿病 / 構造異常 / 嚢胞性腎症 / Osler-Rendu-Weber病 / LPI / 早期診断 / マススクリーニング / 家族性甲状腺腫 |
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| Research Abstract |
In various races, genetic backgrounds have great impacts on genetic epidemiological profiles of genetic diseases. These backgrounds include social isolation, geographical isolation, nonrandom mating, bottle neck phenomenon and genetic drifts.
Although we, Japanese, have been considered to be genetically homogeneous, we are genetically heterogeneous due to social and geographical isolations in the medieval era as shown in the present study.
Consequently, each local cluster has unique population genetic profiles as exemplified by founder mutations for various autosomal recessive diseases. In contrast, no founder mutations were found for autosomal dominant diseases as shown in this project.
These facts imply that recessive diseases are effectively and efficiently diagnosed using founder effects specific to the residential areas.
We tried to evaluate functionally the mutated proteins in an attempt to develop a general methodology to predict functional alterations. In this project, we evaluated mutations of proinsulin Akita as an example.
The prevalences of genetic diseases are very widely perturbed by the population history and social systems. It is necessary to promote research activities for genetic epidemiology and functional proteomics
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