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2010 Fiscal Year Final Research Report

Identification of the genes for abortus habirualis

Research Project

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Project/Area Number 21791565
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Obstetrics and gynecology
Research InstitutionNagasaki University

Principal Investigator

SHIMOKAWA Osamu  Nagasaki University, 大学院・医歯薬学総合研究科, 客員研究員 (50513321)

Co-Investigator(Renkei-kenkyūsha) YOSHIURA KOichiro  長崎大学, 大学院・医歯薬学総合研究科, 教授 (00304931)
Project Period (FY) 2009 – 2010
Keywords習慣性流産
Research Abstract

We purposed to identify the genes for habitual abortion. We performed array analyses for 6 couples and their parents, and identified 49 loci with copy number change less than 10kb (Table 1). We focused six loci among them because of existence of candidate genes and reevaluate the copy number using real time PCR. Two loci, locus1 : 47kb deletion on 8p23.1 and locus2 : 100kb deletion on 4q22.2, were confirmed as deletion. Because the locus1 found in family3 have been reported as copy number variant, we judged locus1 was not responsible for habitual abortion. Locus2 found in family6 contains glutamate receptor delta-2 (GRID2). The GRID2 could related to the neuronal function, but not to fetal or to placental development. We also judged locus2 was not responsible for habitual abortion.

  • Research Products

    (6 results)

All 2011 2010 2009

All Journal Article (3 results) (of which Peer Reviewed: 3 results) Presentation (3 results)

  • [Journal Article] Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome2010

    • Author(s)
      Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K, Harada N
    • Journal Title

      Clinical genetics Vol.20

      Pages: 1399-1404

    • Peer Reviewed
  • [Journal Article] Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)2010

    • Author(s)
      Horikoshi T, Kikuchi A, Tamaru S, Ono K, Kita M, Takagi K, Miyashita S, Kawame H, Shimokawa O, Harada N
    • Journal Title

      Vol.36(3)

      Pages: 671-675

    • Peer Reviewed
  • [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D2009

    • Author(s)
      Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura K, Niikawa N
    • Journal Title

      American Journal of Medical Genetics Part A Vol.149(A)

      Pages: 785-787

    • Peer Reviewed
  • [Presentation] 「9q13-q21領域の重複バリアントの報告」「染色体片親ダイソミーより発症した常染色体劣性遺伝性疾患の2例」2011

    • Organizer
      第8回 中国四国出生前医学研究会
    • Place of Presentation
      愛媛県県民文化会館3階
    • Year and Date
      2011-01-29
  • [Presentation] 「9q13-q21領域の重複バリアントの報告」「染色体片親ダイソミーより発症した常染色体劣性遺伝性疾患の2例」2010

    • Organizer
      第11回 北海道出生前診断研究会
    • Place of Presentation
      札幌医科大学 記念ホール
    • Year and Date
      2010-12-04
  • [Presentation] Multiplex Ligation-dependent Probe Amplification (MLPA) 法による胎児異数性染色体異常のスクリーニング検査の検討2010

    • Organizer
      第9回 東北出生前医学研究会
    • Place of Presentation
      仙台市江陽グランドホテル
    • Year and Date
      2010-01-30

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Published: 2012-02-13   Modified: 2016-04-21  

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