2006 Fiscal Year Final Research Report Summary
Identification of the susceptibility genes for nonsyndromic cleft lip and /or palate
| Project/Area Number |
16390594
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Surgical dentistry
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| Research Institution | Kagoshima University (2005-2006)
Kyushu University (2004) |
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Principal Investigator |
NAKAMURA Norifumi Kagoshima University, Graduate School of Medical and Dental Sciences, Professor, 大学院医歯学総合研究科, 教授 (60217875)
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| Co-Investigator(Kenkyū-buntansha) |
FUKUMAKI Yasuyuki Kyushu University, Medical Institute of Bioregulation, Professor, 生体防御医学研究所, 教授 (90128083)
KIKUTA Rumiko Kyushu University, Faculty of Dental Science, Research Associate, 歯学研究院, 助手 (80403955)
SASAGURI Masaaki Kyushu University, University Hospital, Research Associate, 大学病院, 助手 (00225898)
HIRAHARA Narihiro Kagoshima University, Medical and Dental Hospital, Assistant Professor, 医学部・歯学部附属病院, 講師 (70218808)
NISHIHARA Kazuhide Kagoshima University, Medical and Dental Hospital, Assistant Professor, 医学部・歯学部附属病院, 講師 (30253892)
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| Project Period (FY) |
2004 – 2006
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| Keywords | Cleft 1 p and palate / Multifactorial disease / Genome-wide scan / Congenital malformation |
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| Research Abstract |
1) Approval o identification of the susceptibility genes for nonsyndromic cleft lip and/or palate (CLP) was obtained in the ethics committees in Graduate School of Dental Science in Kyushu University and Graduate School of Medical and dental Sciences in Kagoshima University. Also approval of collaboration for identification of the susceptibility genes for CLP was obtained in the ethics committee in Harapan Kita Children and Maternity Hospital in Indonesia.
2) Correcting the blood samples from patient and parents was made in 113 trios after informed consent using protocol approved by the ethic committee. After selection of the multiples families with nonsyndromic CLP patients, the nail samples were corrected from 6 multiples families.
3) DNA extraction was made from the blood samples. Genotyping of each marker of the GABAA receptor gene and Fox2 gene was carried out by the direct sequencing and the pyro-sequencing method. Evaluation the associations between each marker and nonsyndromic CLP was continued by using the computational program. Furthermore, selecting the genomic markers on the susceptibility chromosomal regions supposed from latest was made on the samples extracted from multiples families in Harapan Kita Hospital.
4) On the familial cases of Ellis-van Creveld syndrome, genotyping of each marker of MSX1, EVC, and EVC2 genes was carried out by the direct sequencing method. No mutation of EVC gene has been detected in the 6 Exons of all 22 Exons, and further studies will be continued.
5) Complicated malformation of cleft lip and palate was analyzed on 443 patients with CLP and facial cleft. Incidence complicated malformation was highest in facial cleft (70%), followed by submucous cleft palate (54.3%) and cleft palate (47.4%). They were found to be more frequent than CLA (15.3%) and CLP (18.4%).
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