2015 Fiscal Year Final Research Report
Molecular biological analysis of genome wide paternal uniparental disomy
| Project/Area Number |
25461648
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Embryonic/Neonatal medicine
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| Research Institution | Saga University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
Soejima Hidenobu 佐賀大学, 医学部分子遺伝学エピジェネティクス分野, 教授 (30304885)
Yoshiura Koh-ichiro 原爆後障害医療研究所, 教授 (00304931)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | Beckwith-Wiedemann症候群 / 片親性ダイソミー / ゲノムワイド父性ダイソミー / エクソーム解析 / メチル化解析 |
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| Outline of Final Research Achievements |
In uniparental disomy (pUPD) of the 11 chromosome with Beckwith-Wiedemann syndrome, we identified seven cases of genome wide uniparental paternal disomy (GWPUPD). GWPUPD was complicated for tumorigenesis, mental retardation and congenital heart disease. We whole exome analysis and performed methylation analysis about GWPUPD 4 cases. We detected many mutations of autosomal recessive gene, and cystinuria developed in one subject. In addition, methylation abnormality was detected to multiple imprinting locus including 11p15.5. We revealed that GWpUPD influenced both autosomal recessive genes and multiple imprinting genes.
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| Free Research Field |
遺伝学
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