| Project/Area Number |
14571711
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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 | The University of Tokyo |
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Principal Investigator |
OHASHI Katsumi The University of Tokyo, Faculty of Medicine, Assistant, 医学部附属病院, 助手 (60233235)
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| Co-Investigator(Kenkyū-buntansha) |
TOKUNAGA Katsushi The University of Tokyo, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (40163977)
NAKAKIYA Nobuaki Kitasato University, The School of Medicine, Associate Professor, 医学部, 助教授 (40180260)
TAKATO Tsuyoshi The University of Tokyo, Faculty of Medicine, Professor, 医学部附属病院, 教授 (90171454)
SUSAMI Takafumi The University of Tokyo, Faculty of Medicine, Associate Professor, 医学部附属病院, 助教授 (80179184)
酒井 直彦 北里大学, 医学部, 講師 (10265639)
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥3,000,000 (Direct Cost: ¥3,000,000)
Fiscal Year 2003: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2002: ¥2,100,000 (Direct Cost: ¥2,100,000)
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| Keywords | homeobox gene / Cleft lip / Palate / MSX1 / MSX2 / Case-cotrol association study / 遺伝子 |
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| Research Abstract |
The maxillo-facial deformityes, orofacial clefting, synpolydactyly are considered to be of complex etiology, including both genetic and enxironmental causes. To date, however no particular genetic cause has been confiremed for these diseases. Many of homeobox genes -containing genes are expressed in specific regions of neural crest -derived mesenchyme of the developing facial primordial. Much interests has been focused on these genes as they may control patterning of the developing facial primordial. Then, we determine whether MSX1, one of the candidate gene previously studied in subjects with cleft lip,cleft palate,or both are associated with.
Subject: One hundred forty -two subjects (CL fifty-five subjects, CL/P fifty-nine subjects and CP twenty-eight subjects), and ninety-six controls. Both subjects and control are Japanese population with non-relative. Method: At first, mutation screening was performed for forty-eight subjects and sixteen controls, then Genotype analysis of candidate alleles (over 10% appearance) for all subjects and controls was performed using PCR-Direct sequenseanalysis.
Result: There was a suspective association between subjects with left-CL and 3'UTR^*71T>C in MSX1 (compared with noncleft controls). This mutation is rare reported in caucasian in previously studies, but we found result this mutaion in MSX1 is common mutations in Japanese pupulation. There was not a suspective association between subjects with CL/P or CP in Japanese in 330C>T, however it is reported in previously studies that there is association between CL/P and CP in Caucasian.
These result suspect that MSX1 gene associate for forming of the first palate clefting, and for determine the type and location of clefting in Japanese.
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