2015 Fiscal Year Final Research Report
The analysis of genetic features of rare obstetric diseases using whole-exome sequencing and genome-wide association study
| Project/Area Number |
24592494
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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 |
Obstetrics and gynecology
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| Research Institution | Kio University (2015)
National Research Institute for Child Health and Development (2012-2014) |
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Principal Investigator |
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| Research Collaborator |
KAMURA Hiromi 国立成育医療研究センター, 研究員
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Keywords | 周産期疾患 / 一塩基多型 / ゲノム |
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| Outline of Final Research Achievements |
This study aimed to clarify the genetic and epigenetic features of rare obstetric diseases in Japanese using whole-exome sequencing and arrays. A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in recurrent hydatidiform mole of a Japanese patient using whole-exome sequencing. DNA methylation assay demonstrated that some maternally methylated regions in villi obtained from the case failed to methylate completely. The results reveal that the mutation of NLRP7 gene and the loss of DNA methylation in maternally methylated regions contribute to establish the disease. In addition, using a high resolution genotyping array and samples from 411 Japanese women with normal parity without significant complications, we have compiled 1043 copy number variable regions. This resource is useful for reducing the candidate pathogenetic variants of rare obstetric diseases in Japanese.
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| Free Research Field |
産婦人科学
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