| 新疆维吾尔族非综合征型先天缺牙家系遗传分析及MSX1基因突变检测 |
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| 引用本文： | 张婕,迪丽努尔·阿吉,李亮,阿米娜·阿布都古勒,阿不拉江·阿那也提.新疆维吾尔族非综合征型先天缺牙家系遗传分析及MSX1基因突变检测[J].新疆医科大学学报,2011,34(7):701-704. |
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| 作者姓名： | 张婕 迪丽努尔·阿吉 李亮 阿米娜·阿布都古勒 阿不拉江·阿那也提 |
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| 作者单位： | 1. 新疆医科大学第一附属医院口腔修复科,新疆,乌鲁木齐,830011
2. 新疆医科大学第一附属医院医学研究中心,新疆,乌鲁木齐,830011 |
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| 基金项目： | 新疆维吾尔自治区自然科学基金项目 |
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| 摘 要： | 目的探讨新疆维吾尔族非综合征型先天缺牙发病的分子机制。方法对2个维吾尔族先天缺牙家系绘制系谱图,分析家系遗传特征,并采集家系成员颊黏膜拭子,提取DNA,采用聚合酶链反应(PCR)技术结合DNA双向测序技术检测MSX1基因突变。结果 MSX1基因外显子1的353位点和外显子2的448位点检测出2个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点。结论 MSX1基因外显子1的353位点的改变可能与新疆维吾尔族非综合征型先天缺牙的发生有关。
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| 关 键 词： | 先天缺牙 MSX1基因 基因突变 |
Genetic features analysis and detection of mutations of MSX1 gene in Xinjiang Uyghur patients with nonsyndromic hypodontia/oligodontia |
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| Institution: | ZHANG Jie,Dilinuer·Aji,LI Liang,et al(Department of Stomatology,First Affiliated Hospital,Xinjiang Medical University,Urumqi 830011,China) |
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| Abstract: | Objective To analyze genetic features and detect the MSX1 gene mutation in Xinjiang Uyghur patients with nonsyndromic hypodontia/ oligodontia,and explore the possible pathogenesis of congenital oligodontia.Methods Pedigree figures were constructed and DNA was extracted from buccal swab samples from two Uyghur families with nonsyndromic hypodontia/oligodontia.All exons of the MSX1 gene were amplified with polymerase chain reaction technique(PCR) and then directly sequenced.Results Two nucleotide change were ... |
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| Keywords: | tooth agenesis MSX1 gene mutation |
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