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Genetic background for sudden and unexpected death of unknown cause

Research Project

Project/Area Number 19390188
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Legal medicine
Research InstitutionTokai University

Principal Investigator

OSAWA Motoki  Tokai University, 医学部, 教授 (90213686)

Co-Investigator(Kenkyū-buntansha) HASAGAWA Iwao  東海大学, 医学部, 助教 (00433912)
KIMURA Ryousuke  東海大学, 医学部, 助教 (00453712)
Research Collaborator HAYASAKA Kiyosi  山形大学, 医学部, 教授
MATOBA Ryouji  大阪大学, 大学院・医学研究科, 教授
Project Period (FY) 2007 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥17,940,000 (Direct Cost: ¥13,800,000、Indirect Cost: ¥4,140,000)
Fiscal Year 2008: ¥7,280,000 (Direct Cost: ¥5,600,000、Indirect Cost: ¥1,680,000)
Fiscal Year 2007: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
Keywords突然死 / 乳幼児 / QT延長症 / 不整脈 / 無呼吸発作 / 遺伝子解析 / 無呼吸症候群
Research Abstract

法医剖検において、乳幼児と成人男性の睡眠中に多発する原因不明の突然死に対し、遺伝性疾患の関与を遺伝子解析から探った。睡眠時無呼吸発作を主徴とする先天性中枢性肺胞低換気症候群が含まれる可能性は低いと判断され、致死的不整脈をきたしうるQT延長症との関連では、一部の症例にSCA5A等イオンチャンネル遺伝子に変異が検出され、これが原因で突然死した可能性が示唆された。内因・外因について議論が絶えないが、一部には遺伝的背景をもつものが含まれると考えられた。

Report

(3 results)
  • 2008 Annual Research Report   Final Research Report ( PDF )
  • 2007 Annual Research Report
  • Research Products

    (23 results)

All 2009 2008 2007 2006

All Journal Article (14 results) (of which Peer Reviewed: 13 results) Presentation (9 results)

  • [Journal Article] SNP association and sequence analysis of the NOS1AP gene in SIDS.2009

    • Author(s)
      Osawa M, Kimura R, Hasegawa I, Mukasa N, Satoh F
    • Journal Title

      Legal Med 11

    • NAID

      10027263013

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Postmortem diagnosis of fatal anaphylaxis during intravenous administration of therapeutic and diagnostic agents : evaluation of clinical laboratory parameters and immunohistochemistry in three cases2008

    • Author(s)
      Osawa M, Satoh F, Horiuchi H, Tian W, Kugota N, Hasegawa I.
    • Journal Title

      Legal Med 10

      Pages: 143-147

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Cardiac ion channel gene mutations in sudden infant death syndrome2008

    • Author(s)
      Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R, Umetsu K, Hayasaka K.
    • Journal Title

      Pediatr Res 64(5)

      Pages: 482-487

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Acute death due to hyperextension injury of the cervical spine caused by falling and slipping onto the face.2008

    • Author(s)
      Osawa M, Satoh F, Hasegawa I.
    • Journal Title

      J Forensic Leg Med 15

      Pages: 457-461

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Gene flow and natural selection in oceanic human populations inferred from genome-wide SNP typing.2008

    • Author(s)
      Kimura R, Ohashi J, Matsumura Y, Nakazawa M, Inaoka T, Ohtsuka R, Osawa M, Tokunaga K.
    • Journal Title

      Mol Biol Evol 25

      Pages: 1750-1761

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Cardiac ion channel gene mutations in sudden infant death syndrome.2008

    • Author(s)
      Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R, Umetsu K, Havasaka K
    • Journal Title

      Pediatric Research 64

      Pages: 482-487

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Gene flow and natural selection in oceanic human populationsinferred from genome-wide SNP typing.2008

    • Author(s)
      Kimura R, Ohashi J, Matsumura Y, Nakazawa M, Inaoka T, Ohtsuka R, Osawa M, Tokunaga K
    • Journal Title

      Molecular Biology and Evolution 25

      Pages: 1750-1761

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Acute death due to hyperextension injury of the cervical spine caused by falling and slipping onto the face2008

    • Author(s)
      Osawa M, Satoh F, Hasegawa I
    • Journal Title

      Journal of Forensic and Legal Medicine 15

      Pages: 457-461

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Postmortem diagnosis of fatal anaphylaxis during intravenous administration of therapeutic and diagnostic agents : Evaluation of clinical laboratory parameters and immunohistochemistry in three cases2008

    • Author(s)
      Osawa M, Satoh F, Horiuchi H, Tian W, Kugota N, Hasegawa
    • Journal Title

      Legal Medicine 10

      Pages: 143-147

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SNP association and sequence analysis of the NOSIAP gene in SIDS2008

    • Author(s)
      Osawa M, Kimura R, Hasegawa I, Mukasa N, Satoh F
    • Journal Title

      Legal Medicine (in press)

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two universal primer sets for species identification among vertebrates2007

    • Author(s)
      Kitano T, Umetsu K, Tian W, Osawa M.
    • Journal Title

      Int J Legal Med 121

      Pages: 423-427

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Two universal primer sets for species identification among vertebrates2007

    • Author(s)
      Kitano T, Umetsu K, Tian W, Osawa M
    • Journal Title

      International Journal of Legal Medicine 121

      Pages: 423-427

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 先天性中枢性低換気症候群と乳幼児突然死症候群との関係 : PHOX2B遺伝子の検索2006

    • Author(s)
      早坂清、木島一己、佐々木綾子、小田切徹州、大澤資樹、的場梁次
    • Journal Title

      日本SIDS学会雑誌 6

      Pages: 33-40

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] 山形県における孤独死の実態2006

    • Author(s)
      大澤資樹
    • Journal Title

      日本警察医会雑誌 1

      Pages: 34-37

    • Related Report
      2008 Final Research Report
  • [Presentation] 乳幼児突然死例に対する死後遺伝子診断の適応、シンポジウム「我が国における乳幼児突然死症候群の現状並びに研究」2009

    • Author(s)
      大澤資樹
    • Organizer
      第93次日本法医学会学術全国集会
    • Place of Presentation
      大阪
    • Related Report
      2008 Final Research Report
  • [Presentation] SNP association and sequence analysis of the NOSIAP gene in SIDS2008

    • Author(s)
      Osawa M, Kimura R, Hasegawa I, Mukasa N, Satoh F
    • Organizer
      7th International Symposium Advances in Legal Medicine
    • Place of Presentation
      Osaka, Japan
    • Year and Date
      2008-09-03
    • Related Report
      2008 Annual Research Report
  • [Presentation] 乳幼児突然死とNOS1AP遺伝子多型との関連性2008

    • Author(s)
      大澤資樹、武笠菜穂子、木村亮介、戸田小弥可、長谷川巌、佐藤文子
    • Organizer
      日本DNA多型学会第17回学術集会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report 2008 Final Research Report
  • [Presentation] SNP association and sequence analysis of the NOS1AP gene in SIDS.2008

    • Author(s)
      Osawa M, Kimura R, Hasegawa I, Mukasa N, Satoh F
    • Organizer
      7th International Symposium Advances in Legal Medicine
    • Place of Presentation
      Osaka, Japan.
    • Related Report
      2008 Final Research Report
  • [Presentation] 孤独死の実態2008

    • Author(s)
      大澤資樹
    • Organizer
      長崎県警察嘱託医会第27回総会
    • Place of Presentation
      長崎
    • Related Report
      2008 Final Research Report
  • [Presentation] No association of sudden infant death syndrome with congenital central hypoventilation syndrome (Ondine' s curse)2007

    • Author(s)
      Osawa M, Sasaki A, et. al.
    • Organizer
      American Society of Human Genetics 57th annual meeting
    • Place of Presentation
      San Diego,CA,U.S.A.
    • Year and Date
      2007-10-25
    • Related Report
      2007 Annual Research Report
  • [Presentation] No association of sudden infant death syndrome with congenital central hypoventilation syndrome (Ondine's curse).2007

    • Author(s)
      Osawa M, Sasaki A, Satoh F, Hasegawa I, Kimura R, Hayasaka K
    • Organizer
      The American Society of Human Genetics 57^<th> annual meeting
    • Place of Presentation
      San Diego, CA, U.S.A.
    • Related Report
      2008 Final Research Report
  • [Presentation] Two universal primers on the 12S and 16S ribosomal RNA loci for species identification.2007

    • Author(s)
      Osawa M, Kitano T, Hasegawa I, Satoh F, Umetsu K
    • Organizer
      The 5th ISABS conference in forensic genetics and molecular anthropology
    • Place of Presentation
      Split, Croatia.
    • Related Report
      2008 Final Research Report
  • [Presentation] Sensitive detection of GC-rich regions by PCR using deaminated DNA : application to sudden infant death syndrome in association with Ondine's curse.2007

    • Author(s)
      Hasegawa I, Satoh F, Kimura R, Osawa M
    • Organizer
      The 5th ISABS conference in forensic genetics and molecular anthropology
    • Place of Presentation
      Split, Croatia.
    • Related Report
      2008 Final Research Report

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Published: 2007-04-01   Modified: 2016-04-21  

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