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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和MSX1基因突变的检测,探讨维吾尔族该病发病分子机制。方法采集12例新疆维吾尔族非综合征型先天缺牙患者颊黏膜拭子,提取DNA,采用PCR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2个单核苷酸多态性位点,MSX1基因外显子1的353位点和外显子2的448位点为2个单核苷酸多态性位点。结论 PAX9基因外显子3的85,86位点和MSX1基因外显子1的353位点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 Uygur pathogenesis of the disease by detecting the mutations of PAX9 and MSX1 gene in non-syndromic type I syndrome of Uygur in Xinjiang Uygur Autonomous Region. Methods Buccal mucosal swabs were collected from 12 cases of Uyghur non-syndromic congenital edentulous patients in Xinjiang Uygur Autonomous Region. DNA was extracted and DNA was detected by PCR combined with DNA bi-directional sequencing. Results Two single nucleotide polymorphisms (SNPs) were detected at exons 85 and 86 in exon 3 of PAX9 gene. The number of SNPs in exon 1 and exon 2 of MSX1 gene was 353 and 448 respectively Nucleotide polymorphism site. Conclusion The changes of 85,86 sites of exon 3 of PAX9 gene and 353 sites of exon 1 of MSX1 gene may be related to the occurrence of non-syndromic tooth birth in Xinjiang Uigur.