3个新疆维吾尔族先天缺牙家系 AXIN2基因突变的检测

目的：探讨新疆维吾尔族非综合征型先天缺牙患者标本中轴抑制基因-2（AXIN2）的突变位点，为研究维吾尔族人群中先天缺牙疾病的发病机制提供基因学参考和依据。方法通过临床先证者找到3个新疆维吾尔族非综合征型先天缺牙家系9例患者，在患者及其家属知情同意的情况下，采集家系成员颊黏膜拭子，提取目的基因组 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个维吾尔族家系的非综合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同时伴发锥形牙。测序后检测出病例Ⅰ、Ⅲ、Ⅳ、Ⅴ、Ⅵ的 AXIN2基因在外显子2的第264位和第547位、外显子6的第162位与外显子11的第922位和第1141位有突变。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存在相关性。

Detection of mutations of Axin2 with nonsyndromic hypodontia in three Xinjiang Uyghur families

Objective To explore the mutational sites of AXIN2 in 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 Through clinical proband we found three Uygur non-syndromic hypodontia families, and DNA was extracted from buccal swab samples from family members,exons of the AXIN2 gene was amplified with polymerase chain reaction technique and then directly sequenced.Results 3 non-syndromic oligodontia Uighur families were inherited in autosomal dominant manner,and in these families patients suffered from missing teeth or cone-shaped teeth.Sequence results of Axin2 showed 5 SNPs.Conclusion The results suggest that the 5 nucleotide change in exon2 and exon6 and exon11 in AXIN2 gene is respon-sible for oligodontia in Xinjiang Uyghur.