AXIN2基因的3个SNP位点与新疆维吾尔族先天缺牙的相关性

目的：探讨维吾尔族单纯型先天缺牙患者标本中AXIN2基因的突变位点。方法：收集维吾尔族非单纯型先天缺牙家系3个，采集家系患者颊黏膜拭子提取DNA，采用聚合酶链反应技术，对分段纯化的PCR产物进行DNA双向测序检测患者的DNA。结果：3个家系的单纯型先天缺牙临床表型符合常染色体显性遗传规律，患者出现不同数量的缺失牙或伴发锥形牙。测序后检测出AXIN2的3个可能的SNP位点。结论：AXIN2基因片段中某些编码基因的改变可能与维吾尔族单纯型先天缺牙有关。

Detection of AXIN2 Gene Mutations in Xinjiang Uyghur Oligodontia Patients.

Objective： To explore the mutational sites of AXIN2 of Xinjiang Uygur patients with oligodontia of non --syndrome and to provide a molecular basis and genomics reference for the diseases in the population of Uygur. Methods： We collected three Uygur non--syndromic hypodontia family. DNA was extracted from buccal swab sam- ples from family members. The AXIN2 gene was amplified with polymerase chain reaction technique and then di- rectly sequenced. Results： 3 non--syndromic oligodontia Uighur families was inherited in an auto some--dominant manner, patients with a different number of missing teeth or associated with cone＂ shaped teeth. Sequence results of Axin2 showed three SNPs. Conclusion.. The results suggest that the three nucleotide change in exon 2 and exon 6 in AXIN2 gene might associate with oligodontia in Xinjiang Uyghur.