2005 Fiscal Year Final Research Report Summary
Analysis of epigenetic abnormalities and micro-deletion of DNAs and chromosomes in spontaneous abortions
| Project/Area Number |
16390481
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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, searcher, 遺伝学部, 非常勤研究員 (00100165)
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| Co-Investigator(Kenkyū-buntansha) |
ONO Takao Aichi Human Service Center, Institute for Developmental Research, Department of Genetics, Researcher, 遺伝学部, 研究員 (20291172)
YAMADA Yasukazu Aichi Human Service Center, Institute for Developmental Research, Department of Genetics, Chief, 遺伝学部, 室長 (70191343)
CHIBA Yoshihide National Cardiovascular Center, Department of Perinatology, Head, 周産期科, 部長
TANEMURA Mitsuyo Nagoya City University, School of Medicine, Obstetrics and Gynecology, Lecturer, 医学部, 講師 (80301422)
SUGIURA Mayumi Nagoya City University, School of Medicine, Obstetrics and Gynecology, Professor, 医学部, 教授 (30264740)
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| Project Period (FY) |
2004 – 2005
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| Keywords | methylation / XIST gene / spontaneous abortion / inactivation / deletion / uniparental disomy / microsatellite / X-chromosome |
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| Research Abstract |
To determine the cause of a spontaneous abortion, we investigated various abnormalities such as epigenetic abnormalities, microdeletions, and abnormalities in chromosome construction. First, X-inactivation in virus cells from 46, XX spontaneous abortions was investigated by RNA-FISH analysis of XIST gene. The results revealed that some cases had cells with weak RNA signals or no signals for XIST gene. In these cases, we investigated late replication of inactivated X-chromosome. The frequency of cells without different replication patterns between the two X-chromosomes in these cases was significantly higher than that in the control. These results suggest that the abnormality of X-inactivation may cause spontaneous abortions. PCR analysis for some segments of the XIST gene in these cases showed no abnormality, such as deletions. To prepare further analysis in these cases, many clone cultures were established from virus cells, but all clones showed normal X-inactivation pattern in the re
… More
sults of RNA-FISH analysis of XIST gene and late-replication analysis.
In more than 300 cases of spontaneous abortion without any chromosomal abnormality, microdeletions were investigated by polymorphic analysis of 360 microsatellites of all autosomes and 35 microsatellites of X chromosome in 46, XY and 45, X cases. Finally, deletions of microsatellite polymorphic patterns were found in some autosomes and in the X-chromosome of 4 cases. We continued to clarify the deleted sequence by FISH analysis of various BAC clones close to the position of the deleted microsatellites. Information from reciprocal translocations and their breakpoints seen in cases of spontaneous abortion were collected from the literature and our network of abortion studies. In a methylation study on imprinting genes, no evidence for remarkable abnormality of methylation was found so far. During microsatellite polymorphic analyses in spontaneous abortions, we found a case of uniparental trisomy 14 that was the first case in the world. Less
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Research Products
(24 results)
