PAX9基因在2个新疆维吾尔族非综合征型先天缺牙家系中的表达

Detection of mutations of PAX9 gene in two Uyghur families with nonsyndromic hypodontia/oligodontia in Xinjiang

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 detect the PAX9 gene mutation in Xinjiang Uyghur patients with nonsyndromic hypodontia/ oligodontia and explore the possible pathogenesis of congenital oligodontia.Methods DNA was extracted from buccal swab samples from two Uyghur families with nonsyndromic hypodontia/ oligodontia.All exons of the PAX9 gene were amplified with polymerase chain reaction technique and then directly sequenced.Results Two nucleotide change were found in exon 3（85,86 site）,PAX9 gene.Conclusions The results suggest that the two nucleotide change in exon 3（85,86 site）,PAX9 gene be responsible for oligodontia in Xinjiang Uyghur.