Development of the diagnostic methods for the intrinsic factor of the maxillo-facial deformity using HLA and the related genes
利用HLA及相关基因诊断颌面部畸形内在因素的方法的建立
基本信息
- 批准号:14571939
- 负责人:
- 金额:$ 2.24万
- 依托单位:
- 依托单位国家:日本
- 项目类别:Grant-in-Aid for Scientific Research (C)
- 财政年份:2002
- 资助国家:日本
- 起止时间:2002 至 2003
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
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 2Method: 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.
颌面部畸形、唇腭裂和鳃弓综合征的病因复杂,既有遗传因素,也有环境因素。然而,迄今为止,还没有确定这些疾病的特定遗传因素。对于这些畸形,每次手术和正畸治疗都很难取得良好的效果。因此,从预防的角度,包括临床基因治疗,我们必须了解这些疾病的发病机制和相关基因。然后,作为第一步,我们确定先前在患有唇裂、腭裂或两者的受试者中研究的候选基因是否与HLA-DRB 1 ^*1302(位于HLA中的外显子2)((实验1))和同源框基因DLX 1和DLX 2相关。((实验二))对象:实验一为一百一十二名被试,一百四十五名对照。方法:实验1采用PCR-MPH方法,实验2采用PCR-Direct测序方法,对候选基因进行基因型分析。结果:实验1中总CL/P与HLA-DRB 1 ^*1301和HLA-DRB 1 ^*1302(与非腭裂对照组相比)呈正相关。同时,右CL/P与HLA-DRB 1 ^*0802和^*1202之间存在疑似关联。实验二在DLX 1的翻译区未发现常见的突变,但在DLX 2的外显子1上发现了与(AGC)n相关的突变,提示HLA和DLX 2基因可能参与了裂殖的形成,并决定了裂殖的类型和部位。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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SUSAMI Takafumi其他文献
SUSAMI Takafumi的其他文献
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{{ truncateString('SUSAMI Takafumi', 18)}}的其他基金
Novel bone tissue engineering method using PTH signaling, its application to secondary alveolar bone grafting in patients with CLP and orthodontic evaluation
利用PTH信号传导的新型骨组织工程方法及其在CLP患者二次牙槽骨移植中的应用及正畸评估
- 批准号:
20592387 - 财政年份:2008
- 资助金额:
$ 2.24万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Bone regeneration for secondary bone graft and orthodontic evaluation
二次骨移植的骨再生和正畸评估
- 批准号:
18592231 - 财政年份:2006
- 资助金额:
$ 2.24万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Molecular and Cellular biglogical study on the maxillotacial bone formation by orthognathic torce.
正颌扭矩作用下颌骨成骨的分子和细胞大逻辑研究。
- 批准号:
12671987 - 财政年份:2000
- 资助金额:
$ 2.24万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Study on ability of Maxillo-facial growth in the patients with congenital anomalies by HLA-typing
HLA分型研究先天性畸形患者颌面部生长能力
- 批准号:
10557195 - 财政年份:1998
- 资助金额:
$ 2.24万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Molecular biology research concernig mandible face growth of Hemifacial Microsomia
半面部微小症下颌面部生长的分子生物学研究
- 批准号:
09672093 - 财政年份:1997
- 资助金额:
$ 2.24万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
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