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Genomic Analysis of Non Syndromic Cleft Lip with or without Cleft Palete

Research Project

Project/Area Number 13671875
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Plastic surgery
Research InstitutionHOKKAIDO UNIVERSITY

Principal Investigator

KAWASHIMA Kunihiro  Hokkaido Univ., Grad. School of Medicine., Inst., 大学院・医学研究科, 助手 (30281801)

Co-Investigator(Kenkyū-buntansha) SEKIDO Mitsuru  Hokkaido Univ., Medical Hospital, Physician., 医学部附属病院, 医員
IGAWA Hiroharu  Hokkaido Univ., Grad. School of Medicine., Asso. Prof., 大学院・医学研究科, 助教授 (10232159)
SUGIHARA Tsuneki  Hokkaido Univ., Grad School of Medicine., Prof., 大学院・医学研究科, 教授 (20002157)
SAKIYAMA Yukio  Hokkaido Univ., Grad. School of Medicine., Corporate Donated Chair Teacher, 大学院・医学研究科, 寄附講座・教員 (80133734)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2002: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 2001: ¥3,100,000 (Direct Cost: ¥3,100,000)
KeywordsCleft lip and palate / Lhx8 gene / Genome / SNP / TCOF1 gene
Research Abstract

Nonsyndromic cleft lip with or without cleft palate is one of the most common congenital anomalies, with an incidence of 1/500 live birth in Japan. Both environmental and genetic factors are thought to be involved in its pathogenesis. The analysis of human Lhx8 gene was done in the cleft lip patients by using the knockout mouse of the Lhx8 gene in the animal study based on the report that the occurrence of the cleft palate was seen. It was analyzed for 103 patients and 87 controls and a single base substitution was detected in each of the exon 2 and 8 of Lhx8 gene. Because these single base substitutions were seen in 1% and more of the frequency in the patients and control, we thought these as single nucleotid polymorphism. From the above result, we could not explain the relations of the cause of the cleft lip and the Lhx8 gene. Moreover we analyzed the TCOF1 gene in Treacher Collins Syndrome which combined cleft lip and palate. We detected the mutations of TCOF1 gene in the Japanese patients and some novel mutations was detected. All of mutations in TCOF1 are nonsense, small deletions or insertions, which lead to premature termination codons as well as previously reports.

Report

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

    (2 results)

All Other

All Publications (2 results)

  • [Publications] 堀内 勝己: "Treacher Collins症候群本邦8症例におけるTCOF1遺伝子解析"北海道医学雑誌. (印刷中). (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Katsumi Horiuchi: "Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome"The Hokkaido Journal of Medical Science. (in press). (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary

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

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