Search for causative genes for birth defects expressed in maxillofacial area
| Project/Area Number |
26861783
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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 |
Orthodontics/Pediatric dentistry
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| Research Institution | Kobe University |
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Principal Investigator |
OKAMOTO NANA 神戸大学, 医学部附属病院, 医員 (60645216)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | ゲノム / 先天異常 / 顎顔面形態 / 奇形 / 変異 / 歯科 / 先天異常疾患 / 顎顔面 |
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| Outline of Final Research Achievements |
In this research have been proposed to combine quantitative evaluation of phenotype obtained from examination which has been conventionally done in the field of orthodontics, and comprehensive genome screening. We aimed to identify the pathogenic genes of congenital anomalies of maxillofacial and to construct a novel clinical diagnostic algorithm. We worked out to clarify the phenotype and genotype correlation used by the patients related to congenital anomalies in maxillofacial area. We identified some causative genes. The coverage was about 30% of the total analyses. We also found that the mutations were not always the pathogenic genes which were obtained from genetic heterogeneity in the absence or presence of the candidate gene. These conclusions has been useful for recruitment of disease to accumulate information. On the other hand, we could not find out the correlation both functional influences and evaluations of gene related on the birth defects were difficult to define.
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Report
(4 results)
Research Products
(8 results)
