2011 Fiscal Year Final Research Report
The changing frequency of genetic causes for Prader-Willi syndrome in Japan.
| Project/Area Number |
22791022
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
MATSUBARA Keiko 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (90542952)
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| Project Period (FY) |
2010 – 2011
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| Keywords | 遺伝学 / 先天異常 |
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| Research Abstract |
We performed molecular analysis on 140 patients with Prader-Willi syndrome. Here, we report that advanced maternal age was a risk factor for the development of PWS due to upd(15) mat resulting from meiosis I error, and that relative frequency of upd(15) mat due to trisomy rescue after non-disjunction during meiosis I was increased since 2003 when advanced maternal age became obvious in Japan. We also repot that the frequency of births after ART was significantly higher in PWS patients than in the general population. These results showed that ART and/or ART-related parental factors(maternal age etc.) can be a risk factor for PWS in general.
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[Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2 : hierarchical interaction and distinct functional properties as imprinting control centers2010
Author(s)
Kagami M, O Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T
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Journal Title
PLoS Genet
Volume: 6
Pages: 1000992
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