| Project/Area Number |
13671875
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Plastic surgery
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| Research Institution | HOKKAIDO UNIVERSITY |
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Principal Investigator |
KAWASHIMA Kunihiro Hokkaido Univ., Grad. School of Medicine., Inst., 大学院・医学研究科, 助手 (30281801)
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| 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)
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| Project Period (FY) |
2001 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| 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)
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| Keywords | Cleft lip and palate / Lhx8 gene / Genome / SNP / TCOF1 gene |
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| 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.
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