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  

Genetic features analysis and detection of mutations of MSX1 gene in Xinjiang Uyghur patients with nonsyndromic hypodontia/oligodontia

作　　者：张婕[1] 迪丽努尔.阿吉 李亮[2] 阿米娜.阿布都古勒 阿不拉江.阿那也提 

机构地区：[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

出　　处：《新疆医科大学学报》2011年第7期701-704,共4页Journal of Xinjiang Medical University

基　　金：新疆维吾尔自治区自然科学基金项目(2011211A078)

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。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 found in exon1（353 site）,exon2（448 site） of MSX1 gene.Conclusion The results suggest that the nucleotide change in exon1（353 site） of MSX1 gene might be responsible for oligodontia in Xinjiang Uyghur nationality.

关 键 词：先天缺牙 MSX1基因 基因突变 

分 类 号：R783.4[医药卫生—口腔医学]