Identification of fetal hepatic antigen of neonatl hemochromatosis and development of maternal IgG assay for NH

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K10696
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Obstetrics and gynecology
• 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)
• 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)
• Project Period (FY): 2015-04-01 – 2018-03-31
• 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

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.

Free Research Field

周産期免疫