レギュラトリーサイエンス分野

大江 瑞恵

Tamae Ohye

基本情報

所属
藤田医科大学 医療科学部  教授
学位
医学博士(藤田保健衛生大学)

研究者番号
10247661
J-GLOBAL ID
200901075566829507
researchmap会員ID
1000289405

外部リンク

染色体異常の発生機構について研究しています。

論文

 106
  • 佐藤 倫, 倉橋 浩樹, 大江 瑞恵, 佐藤 労
    DNA多型 31(1) 128-133 2023年7月  
  • 奥野 桜子, 藤江 里衣子, 河村 理恵, 倉橋 浩樹, 大江 瑞恵, 佐藤 労
    日本遺伝カウンセリング学会誌 43(2) 137-137 2022年6月  
  • Tasuku Mariya, Takema Kato, Takeshi Sugimoto, Syunsuke Miyai, Hidehito Inagaki, Tamae Ohye, Eiji Sugihara, Yukako Muramatsu, Seiji Mizuno, Hiroki Kurahashi
    Journal of human genetics 67(6) 363-368 2022年1月14日  査読有り
    Structural analysis of small supernumerary marker chromosomes (sSMCs) has revealed that many have complex structures. Structural analysis of sSMCs by whole genome sequencing using short-read sequencers is challenging however because most present with a low level of mosaicism and consist of a small region of the involved chromosome. In this present study, we applied adaptive sampling using nanopore long-read sequencing technology to enrich the target region and thereby attempted to determine the structure of two sSMCs with complex structural rearrangements previously revealed by cytogenetic microarray. In adaptive sampling, simple specification of the target region in the FASTA file enables to identify whether or not the sequencing DNA is included in the target, thus promoting efficient long-read sequencing. To evaluate the target enrichment efficiency, we performed conventional pair-end short-read sequencing in parallel. Sequencing with adaptive sampling achieved a target enrichment at about a 11.0- to 11.5-fold higher coverage rate than conventional pair-end sequencing. This enabled us to quickly identify all breakpoint junctions and determine the exact sSMC structure as a ring chromosome. In addition to the microhomology and microinsertion at the junctions, we identified inverted repeat structure in both sSMCs, suggesting the common generation mechanism involving replication impairment. Adaptive sampling is thus an easy and beneficial method of determining the structures of complex chromosomal rearrangements.
  • 日比野ゆかり, 西澤春紀, 山岡貴花, 佐々木典子, 佐藤労, 大江瑞恵
    日本遺伝カウンセリング学会誌 2022年  査読有り責任著者
  • Hiroki Miura, Yoshiki Kawamura, Tamae Ohye, Fumihiko Hattori, Kei Kozawa, Masaru Ihira, Hiroshi Yatsuya, Haruki Nishizawa, Hiroki Kurahashi, Tetsushi Yoshikawa
    The Journal of Infectious Diseases 223(10) 1717-1723 2021年5月28日  査読有り
    <title>Abstract</title> <sec> <title>Background</title> Human herpesvirus 6 (HHV-6) can be genetically transmitted from parent to child as inherited chromosomally integrated HHV-6 (iciHHV-6). HHV-6 reactivation occurs in pregnant women with iciHHV-6. We found no sex differences in the frequency of index cases with iciHHV-6 but inheritance from the father was more common. We evaluated the association between iciHHV-6 status and spontaneous abortion. </sec> <sec> <title>Methods</title> iciHHV-6 was confirmed by high viral DNA copy numbers in whole blood and somatic cells. The origin of integrated viral genome, paternal or maternal, was examined using the same method. The pregnancy history of 23 mothers in families with iciHHV-6 and 285 mothers in families without iciHHV-6 was abstracted. </sec> <sec> <title>Results</title> Of 23 iciHHV-6 index cases, 8 mothers and 15 fathers had iciHHV-6. Spontaneous abortion rates in mothers with and mothers without/fathers with iciHHV-6 and mothers in families without iciHHV-6 were 27.6%, 10.3%, and 14.8%, respectively (P = .012). Mothers with iciHHV-6 (odds ratio [OR], 6.41; 95% confidence interval [CI], 1.10–37.4) and maternal age at the most recent pregnancy ≥40 years (OR, 3.91; 95% CI, 1.30–11.8) were associated with 2 or more spontaneous abortions. </sec> <sec> <title>Conclusions</title> Mothers with iciHHV-6 is a risk factor for spontaneous abortion. </sec>

MISC

 142

講演・口頭発表等

 4

担当経験のある科目(授業)

 9

共同研究・競争的資金等の研究課題

 12

その他

 4
  • FISH法による染色体解析(FISH法による染色体の数的異常や欠失、挿入などの構造異常の解析、Ohye T, scientific reports, 2014)
  • その他教育活動上特記すべき事項 なし
  • 教育方法・教育実践に関する発表、講演等 なし
  • 教育内容・方法の工夫(授業評価等を含む) なし