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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 investigate the molecular mechanism of non-syndromic congenital tooth loss in Uighur in Xinjiang. Methods Two pedigrees of Uygur spawned tooth family were drawn. Genetic characteristics of pedigrees were analyzed. Buccal mucosal swabs of family members were collected and DNA was extracted. Mutations of MSX1 gene were detected by polymerase chain reaction (PCR) and DNA bi-directional sequencing. Results Two single nucleotide polymorphisms (SNPs) were detected in exon 1 of MSX1 gene and exon 2 of 448 loci. Conclusion The change of exon 1 of MSX1 gene at point 353 may be related to the development of non-syndromic congenital edentulous teeth in Xinjiang Uigur.