Identification of fetal hepatic antigen of neonatl hemochromatosis and development of maternal IgG assay for NH
Project/Area Number |
15K10696
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Obstetrics and gynecology
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Research Institution | National Center for Child Health and Development |
Principal Investigator |
Sasaki Aiko 国立研究開発法人国立成育医療研究センター, 周産期・母性診療センター, 産科医師 (60560711)
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Research Collaborator |
MOTOMURA Kenishiro 国立研究開発法人国立成育医療研究センター, 免疫アレルギー・感染研究部, リサーチアソシエイト (00724329)
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Project Period (FY) |
2015-04-01 – 2018-03-31
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Project Status |
Completed (Fiscal Year 2017)
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Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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Keywords | 新生児ヘモクロマトーシス / 同種免疫性疾患 / 原因遺伝子 / エクソーム解析 / 全国調査 / 発症頻度 / 原因蛋白 / ハプロ解析 / 胎内治療全国調査 / 薬物動態解析 / 全国患者検体収集 / 病態解析 |
Outline of Final Research Achievements |
I performed the neonatal hemochromatosis(NH) national survey to estimate the disease rate in Japan and found out that NH occurred from 4 to 5 cases in a year among one million births. This survey also contributed to revise the disease criterion, 2018. Through this survey, we collected the samples from six NH cases. Using these patient’s serums, we carried out the immunohistochemistry staining and Western blotting, however we couldn’t identify the specific protein related to NH. In exome analysis, we assumed that NH was alloimmune disease and conducted haplotype analysis. From these analyze, we couldn’t narrow down the list of candidate genes. Finally, NH is thought to be multigenic/multifactorial-genetic disease.
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Report
(4 results)
Research Products
(6 results)
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[Journal Article] Fetal Magnetic Resonance Imaging Detection of Liver Iron Deposition in Neonatal Hemochromatosis During Prenatal Therapy2016
Author(s)
Sasaki A1, Motomura K, Suyama F, Nagasawa J, Hisano M, Ito R, Miyazaki O, Nakazawa A, Ito Y, Kasahara M, Asai A, Matsumoto K, Sago H, Yamaguchi K.
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Journal Title
J Pediatr Gastroenterol Nutr
Volume: 63
Issue: 5
DOI
Related Report
Peer Reviewed
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