2016 Fiscal Year Final Research Report
Genetic mechanism of split-hand/foot malformation with or without long bone deficiency
Project/Area Number |
26870255
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Human genetics
Pediatrics
|
Research Institution | Hamamatsu University School of Medicine |
Principal Investigator |
Nagata Eiko 浜松医科大学, 医学部附属病院, 特任助教 (90535569)
|
Co-Investigator(Renkei-kenkyūsha) |
Fukami Maki 国立成育医療研究センター, 分子内分泌研究部, 部長 (40265872)
Ogata Tsutomu 浜松医科大学, 小児科, 教授 (40169173)
|
Project Period (FY) |
2014-02-01 – 2017-03-31
|
Keywords | 先天異常 / 遺伝子解析 / 臨床遺伝学 |
Outline of Final Research Achievements |
BHLHA9 copy-number gain constitutes a strong susceptibility factor with a dosage effect for limb malformations. Japanese founder duplication was generated through a replication-based mechanism and underwent subsequent triplication and haplotype modification through recombination- based mechanisms. Clinical variability appears to be due to multiple factors.
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Free Research Field |
臨床遺伝学
|