2011 Fiscal Year Final Research Report
Genetic background of sudden death cases suspected of drug induced-long QT syndrome
| Project/Area Number |
22790604
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Legal medicine
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| Research Institution | Kobe University (2011)
Hyogo Medical University (2010) |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2011
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| Keywords | 突然死 / 死後遺伝子検査 |
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| Research Abstract |
Long QT syndrome is a heart rhythm disorder which can cause Torsades de pointes, ventricular fibrillation and sudden death. Some of this syndrome result from DNA mutations and/or are caused by certain medications. I investigated the genetic background of sudden death cases without remarkable autopsy findings.
I intended to investigate on 20 cases ; however only 7 cases were enrolled in this study with written informed consent. Direct sequencing analysis on exons of KCNQ1, KCNH2 and SCN5A showed some single nucleotide polymorphisms which were previously known but no new mutations and polymorphisms.
I would like to continue and develop the study on genetic analysis of sudden death cases.
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