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Investigation of abnormal genome imprinting and genes as a cause of spontaneous abortions

Research Project

Project/Area Number 13470356
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Obstetrics and gynecology
Research InstitutionInstitute for Developmental Research, Aichi Human Service Center

Principal Investigator

SONTA Shin-ichi  Aichi Human Service Center Institute for Developmental Research, Department of Genetics, Chief, 遺伝学部, 室長 (00100165)

Co-Investigator(Kenkyū-buntansha) TANEMURA Mitsuyo  Nagoya City University, School of Medicine, Lecturer, 医学部, 講師 (80301422)
CHIBA Yoshihide  National Cardiovascular Center, Department of Perinatology, Head, 周産期科, 部長
MUTOH Norihiro  Aichi Human Service Center Institute for Developmental Research, Department of Genetics, Senior Scientist, 遺伝学部, 主任研究員 (70190858)
SUZUMORI Kaoru  Nagoya City University, School of Medicine, Professor, 医学部, 教授 (80117829)
千葉 喜英  国立循環器病センター, 周産期, 部長
小野 教夫  愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 研究員 (20291172)
Project Period (FY) 2001 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥12,200,000 (Direct Cost: ¥12,200,000)
Fiscal Year 2003: ¥3,800,000 (Direct Cost: ¥3,800,000)
Fiscal Year 2002: ¥3,800,000 (Direct Cost: ¥3,800,000)
Fiscal Year 2001: ¥4,600,000 (Direct Cost: ¥4,600,000)
Keywordsuniparental disomy / spontaneous abortion / methylation / microsatellite / deletion / reciprocal translocation / chromosome / inactivation / メチル化 / ゲノム刷り込み
Research Abstract

We investigated the relationship of UPDs, minute deletions of chromosomes, genes on the breakpoints of translocations, and abnormalities of genomic imprinting and X-inactivation to spontaneous abortion. First, we analyzed the origin of each chromosome of the aborted fetuses by microsatellite analysis using DNA from the villi of spontaneous abortions and peripheral blood of both parents. Microsatellite polymorphic patterns on each chromosome were detected by using a set of more than 200 primers. In 59 spontaneous abortions analyzed, we found one new case with UPD of chromosome 14. Polymorphic analyses revealed that this case was caused from an oocyte with disomy 14. Second, we investigated genes relating to common breakpoints in cases with de novo reciprocal translocations among our cases and those in the literature. However, we could not find such genes relating to spontaneous abortions. Third, we investigated methylation of the specific genes to investigate abnormality of genomic imprinting. To detect abnormal X-inactivation, we analyzed late-DNA-replication by AOR-banding and methylation of XIST and other genes in the X chromosome. We recently found unusual DNA-replicating patterns compared with the control and other cases, and abnormal methylation of genes in the X-chromosome. These results suggest the possibility that abnormal X-inactivation may also relate to the cause of spontaneous abortions.

Report

(4 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • 2001 Annual Research Report
  • Research Products

    (27 results)

All Other

All Publications (27 results)

  • [Publications] Kondo, Y.et al.: "Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion"J.Hum.Genet.. (in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Yamada, Y.et al.: "Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families"Nucleosi Nucleoti Nucleic Acid. (in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Mizunuma, M.et al.: "Disruption in the hypoxanthine phosphoribosyltransferase gene caused by translocation in a patient with Lesch-Nyhan syndrome"Nucleosi Nucleoti Nucleic Acid. (in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sonta, S.: "Contribution of chromosomal imbalance to sperm selection and pre-implantation loss in translocation-heterozygous Chinese hamsters"Cytogenet Genom Res. (in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sato, T.et al.: "Comparison between fluorescent in situ hybridization and quantitative-fluorescent polymerase reaction for the detection of aneuploidies in single"Prenat.Diagn.. 23(8). 678-684 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Xhao, X.X.et al.: "Prenatal diagnosis of triple X using fetal cells obtained by endocervical lavage endocervical lavage"Prenat.Diagn.. 23(7). 549-551 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kondo, Y., Tsukishiro, S., Tanemura, M., Sugiura-Ogasawara, M., Suzumori, K., Sonta, S.: "Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion."J.Hum.Genet.. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N: "Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families."Nucleosi Nucleoti Nucleic Acid. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Mizunuma M, Yamada Y, Yamada K, Sonta S, Wakamatsu N, Kanako K, Ogasawara N, Fujimori S: "Disruption in the hypoxanthine phosphoribosyltransferase gene caused by trans-location in a patient with Lesch-Nyhan syndrome."Nucleosi Nucleoti Nucleic Acid. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sonta, S.: "Contribution of chromosomal imbalance to sperm selection and pre-implantation loss in translocation-heterozygous Chinese hamsters."Cytogenet Genom Res.. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sato T, Ikuta K, Sherlock J, Matteo A, Suzumori K: "Comparison between fluorescent in situ hybridization (FISH) and quantitative-fluorescent polymerase reaction (QF-PCR) for the detection of aneuploidies in single blastomeres."Prenat Diagn. 23. 678-684 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Xhao XX, Suzumori K, Sato T.: "Prenatal diagnosis of triple X using fetal cells obtained by endocervical lavage."Prenta Diagn. 23. 549-551 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kondo Y, Tsukishiro S, Tanemura M, Sugiura Ogasawara M, Suzumori, K, Sonta S.: "Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion"J Hum Genet. in press. (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N: "Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families"Nucleosi Nucleoti Nucleic Acid. in press. (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Mizunuma M, Yamada Y, Yamada K, Sonta S, et al.: "Disruption in the hypoxanthine phosphoribosyltransferase gene caused by translocation in a patient with Lesch-Nyhan syndrome"Nucleosi Nucleoti Nucleic Acid. in press. (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Sonta, S.: "Contribution of chromosomal imbalance to sperm selection and pre-implantation loss in translocation-heterozygous Chinese hamsters"Cytogenet Genom Res. in press. (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Sato T, Ikuta K, Sherlock J, Matteo A, Suzumori K: "Comparison between fluorescent in situ hybridization (FISH) and quantitative-fluorescent polymerase reaction (QF-PCR) for the detection of aneuploidies in single blastomeres"Prenat Diagn. 23(8). 678-684 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Xhao XX, Suzumori K, Sato T.: "Prenatal diagnosis of triple X using fetal cells obtained by endocervical lavage"Prenat Diagn. 23(7). 549-551 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Sonta, S.: "Transmission of chromosomal abnormalities : participation of chromosomally unbalanced gametes in fertilization and early development of unbalanced embryos"Mutat. Res.. 504(1-2). 193-202 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Miyashita, S., Chiba, Y.: "Doppler studies can predict long-term outcome of growth-restricted fetuses"J. Med. Ultrasound. 10(2). 86-93 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Iinuma, Y., Sugiura-Ogasawara, M., Makino, A., Ozaki, Y., Suzumori, N., Suzumon, K.: "Coagulation factor XII activity, but not an associated common genetic polymorphism (46C/T), is linked to recurrent miscarriage"Fertil. Steril.. 77. 353-356 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Michimata, T, Ogasawara, M, Tsuda, H, Suzumori K, Aoki, K, Sakai, M, Fujimura, M: "Distributions of endometrial NK cells, B cells, T cells, and Th2/Tcs cells fails to predict pregnancy outcome following recurrent abortion"Am. J. Reprod. Immunol.. 47. 196-202 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 堀尾裕幸, 種村光代, 川俣和弥, 千葉喜英, 名取道也, 鈴森薫: "家族性遣伝性疾患解析のためのデータベース-患者情報から検体保存およびDNA解析結果まで-"産婦人科治療. 84. 17-22 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 種村光代, 鈴森薫, 加藤久典: "妊娠初期の超音波スクリーニング"産婦人科の実際. 51(8). 1099-1106 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Yamada K, Yamada Y, Nomura N, Miura K, Sonta, S. et al.: "Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting Protein 1, cause a complex developmental disorder with a great variety of clinical features"Am.J.Hum.Genet.. 69. 1178-1185 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Wakamatsu, N., Yamada, Y., Ono, T., Sonta, S.et al.: "Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease"Nat.Genet.. 27. 369-370 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Tanemura, M., Suzumori, K., Nishikawa, N., Ishihara, Y.: "Multicolour spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies"Prenat.Diagn.. 21. 1123-1128 (2001)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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