| Project/Area Number |
14571939
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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 |
矯正・小児・社会系歯学
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| Research Institution | The University of Tokyo |
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Principal Investigator |
SUSAMI Takafumi The University of Tokyo, Faculty of Medicine, Associate Professor, 医学部附属病院, 助教授 (80179184)
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| Co-Investigator(Kenkyū-buntansha) |
YAMAZAKI Yasuharu Kitasato University, The School of Medicine, Lecturer, 医学部, 講師 (00210401)
TOKUNAGA Katsusih The University of Tokyo, Graduate School of Meddicine, Professor, 大学院・医学系研究科, 教授 (40163977)
TAKATO Tuyoshi The Univ. of Tokyo, Faculty of Medicine, Professor, 医学部附属病院, 教授 (90171454)
SAKAI Naohiko Kitasato University, The School of Medicine, Lecturer, 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 |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2003: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2002: ¥2,500,000 (Direct Cost: ¥2,500,000)
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| Keywords | Clift lip / Palate / HLA / homeobox / DLX1 / DLX2 / Case-control association study |
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| Research Abstract |
The maxillo-facial deformities, orofacial clefting and branchial arch syndromes are considered to be causesd by complex etiology, including both genetic and enxironmental factors. To date, however no particular genetic factors has been confiremed for these diseases. It is very difficult to get good results of surgical and orthodontic treatment for these malformation everytime. So from a preventive point of view, including the clinical genetic treatment, we must get infomations of mechanism for causing these diseases and related genes. Then, as a first step, we determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with HLA-DRB1^*1302 (located exon2 iin HLA) ((Experiment 1)) and homeobox gene, DLX1 and DLX2.((Experiment 2))
Subject: One hundred twelve subjects, and one hundred forty-five controls for Experiment 1. One hundred forty -two subjects, and ninety-six controls for Experiment 2
Method: Genotype analysis of candidate genes was performed using PCR-MPH method for Exp.1 and PCR-Direct sequenseanalysis fo Exp.2.
Result: Positive association between subjects with total-CL/P and HLA-DRB1^*1301 and HLA-DRB1^*1302 (compared with noncleft controls) was found in Experiment 1. And at the same time, there was a susupective association between subjects with right-CL/P and HLA-DRB1^*0802,and ^*1202. In Exp.2, we couldn't identify commom mutaons in translated region on DLX1, but there was a suspective association between subjects with complete-CUP and (AGC)n in exonl on DLX2.
These result suspect that HLA and DLX2 gene associate for forming of clefting, and for determine the type and location of clefting.
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