| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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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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