2013 Fiscal Year Final Research Report
Mutational analysis of cardiac ion channel detected in sudden cardiac death
| Project/Area Number |
24790643
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Legal medicine
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| Research Institution | Kitasato University |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 心臓イオンチャネル遺伝子 / KCNQ1 / KCNH2 / 心臓性突然死 |
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| Research Abstract |
In most cases of sudden death, cause and manner of death can be established, with many attributable to cardiac abnormalities evident at autopsy. A significant number of sudden cardiac deaths, however, particularly in young people, remains unexplained following a comprehensive medicolegal investigation, including autopsy and laboratory tests. In this study, comprehensive screening of cardiac ion channel genes, KCNQ1 and KCNH2 were preformed in sudden cardiac death. It was examined whether screening of these SNPs could provide for genetic based diagnosis of sudden cardiac death. These results suggested that 5SNPs in KCNQ1 and 4SNPs in KCNH2 were important to the genetic based diagnosis of sudden cardiac death.
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