| 1例非综合征型先天缺牙家系的基因筛查 |
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| 引用本文： | 杨艳,张义磊.1例非综合征型先天缺牙家系的基因筛查[J].武汉大学学报(医学版),2011,32(3):343-348. |
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| 作者姓名： | 杨艳 张义磊 |
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| 作者单位： | 1. 武汉大学中南医院口腔科,湖北武汉,430071
2. 华中科技大学生命科学学院,湖北武汉,430074 |
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| 基金项目： | 湖北省卫生厅科研指导性项目(编号:JX4C39) |
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| 摘 要： | 目的:探讨非综合征型先天缺牙患者的基因突变位点,为此类疾病的诊断提供基因学参考.方法:通过临床先证者寻找非综合征型先天缺牙家系,根据各成员的临床表型和发病特点,绘制系谱图.在患者及其家属知情同意的情况下,抽取家系成员外周血、提取基因组DNA,运用候选基因筛查法检测与缺牙密切相关的PAX 9、AXIN 2、MSX 1基因...
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| 关 键 词： | 非综合征型先天缺牙 PAX9基因 MSX1基因 AXIN2基因 |
Genetic Screening in a Chinese Family with Oligodontia |
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| YANG Yan,ZHANG Yilei.Genetic Screening in a Chinese Family with Oligodontia[J].Medical Journal of Wuhan University,2011,32(3):343-348. |
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| Authors: | YANG Yan ZHANG Yilei |
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| Institution: | YANG Yan1,ZHANG Yilei2 1Dept.of Stomatology,Zhongnan Hospital of Wuhan University,Wuhan 430071,China2School of Life Science & Technology,Huazhong University of Science & Technology,Wuhan 430074,China |
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| Abstract: | Objective: To investigate the mutational sites in chromosome of patients with oligodontia of non-syndrome and to provide a molecular basis for studying the disease.Methods: A family with congenital non-syndromic oligodontia was found,and the pedigree was drawn on the basis of the phenotype and disease characteristics of the family.The susceptibility genes PAX 9,AXIN 2,and MSX 1 were studied by polymerase chain reaction in order to find mutational sites.Results: The non-syndromic oligodontia in the family wa... |
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| Keywords: | Oligodontia Non-Syndrome Paired Box Homeotic Gene 9 Muscle Segment Homeobox Gene 1 Axis Inhibition Protein 2 |
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