| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Outline of Final Research Achievements |
We performed whole exome analyses of 53 isolated cases with conotruncal anolies (including 3 cases with patent trucus arteriosus, 31 with tetralogy of Fallot and 21 cases with transposition of great arteries) and two families with tetralogy of Fallot. Exome analysis of the first family revealed JAG1 mutaion which has been reported to be related to Alagille syndrome. Asyptomatic mother of the proband had the same mutation, suggesting the low penetrance of the mutation. Six candidate genes were found from the analysis of the second family. We are now perfoming functional analysis using zebrafish for the one of the candidate genes, LZTR1, which is located at 22q11.2 lesion know to be related to pathogenesis of tetralogy of Fallot.
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