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目的通过对新疆维吾尔族非综合征型先天缺牙患者PAX9基因突变的检测,为维吾尔族该病发病的分子机制提供依据。方法采集2个新疆维吾尔族非综合征型先天缺牙家系颊黏膜拭子,提取DNA,采用聚合酶链反应技术结合DNA双向测序技术对患者DNA进行检测。结果 PAX9基因外显子3的85、86位点检测出两个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点。结论 PAX9基因外显子3的85、86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 PAX9 gene mutation in non-syndromic patients with Uygur in Xinjiang Uygur Autonomous Region. Methods Two buccal mucosal swabs were collected from non-syndromic tooth family of non-syndromic Uyghur families in Xinjiang Uygur Autonomous Region for DNA extraction. DNA was detected by polymerase chain reaction and DNA bi-directional sequencing. Results Two single nucleotide polymorphisms (SNPs) sites were detected at 85 and 86 of exon 3 of PAX9 gene. Conclusion The changes of 85,86 sites in exon 3 of PAX9 gene may be related to the occurrence of non-syndromic congenital edentulous teeth in Xinjiang Uigur.