2003 Fiscal Year Final Research Report Summary
Investigation of abnormal genome imprinting and genes as a cause of spontaneous abortions
| Project/Area Number |
13470356
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Institute for Developmental Research, Aichi Human Service Center |
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Principal Investigator |
SONTA Shin-ichi Aichi Human Service Center Institute for Developmental Research, Department of Genetics, Chief, 遺伝学部, 室長 (00100165)
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| Co-Investigator(Kenkyū-buntansha) |
TANEMURA Mitsuyo Nagoya City University, School of Medicine, Lecturer, 医学部, 講師 (80301422)
CHIBA Yoshihide National Cardiovascular Center, Department of Perinatology, Head, 周産期科, 部長
MUTOH Norihiro Aichi Human Service Center Institute for Developmental Research, Department of Genetics, Senior Scientist, 遺伝学部, 主任研究員 (70190858)
SUZUMORI Kaoru Nagoya City University, School of Medicine, Professor, 医学部, 教授 (80117829)
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| Project Period (FY) |
2001 – 2003
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| Keywords | uniparental disomy / spontaneous abortion / methylation / microsatellite / deletion / reciprocal translocation / chromosome / inactivation |
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| Research Abstract |
We investigated the relationship of UPDs, minute deletions of chromosomes, genes on the breakpoints of translocations, and abnormalities of genomic imprinting and X-inactivation to spontaneous abortion. First, we analyzed the origin of each chromosome of the aborted fetuses by microsatellite analysis using DNA from the villi of spontaneous abortions and peripheral blood of both parents. Microsatellite polymorphic patterns on each chromosome were detected by using a set of more than 200 primers. In 59 spontaneous abortions analyzed, we found one new case with UPD of chromosome 14. Polymorphic analyses revealed that this case was caused from an oocyte with disomy 14. Second, we investigated genes relating to common breakpoints in cases with de novo reciprocal translocations among our cases and those in the literature. However, we could not find such genes relating to spontaneous abortions. Third, we investigated methylation of the specific genes to investigate abnormality of genomic imprinting. To detect abnormal X-inactivation, we analyzed late-DNA-replication by AOR-banding and methylation of XIST and other genes in the X chromosome. We recently found unusual DNA-replicating patterns compared with the control and other cases, and abnormal methylation of genes in the X-chromosome. These results suggest the possibility that abnormal X-inactivation may also relate to the cause of spontaneous abortions.
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Research Products
(12 results)
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[Publications] Kondo, Y., Tsukishiro, S., Tanemura, M., Sugiura-Ogasawara, M., Suzumori, K., Sonta, S.: "Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion."J.Hum.Genet.. (in press). (2004)
Description
「研究成果報告書概要(欧文)」より
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