新疆维吾尔族先天缺牙家系患者AXIN2基因突变的检测

发布时间：2018-06-27 02:51

  本文选题：先天缺牙 + Axin2　； 参考：《新疆医科大学》2014年硕士论文

【摘要】：目的：对收集到的3个新疆维吾尔族非综合征型先天缺牙家系和6个散发病例进行临床分析,总结非综合征型维吾尔族家系先天缺牙患者的缺牙规律,后对缺牙家系定位Axin2基因位点进行筛查检测,探讨Axin2基因的碱基改变与该疾病的相关性,从而为新疆维吾尔族人群中此类疾病的发病机理提供基因学依据和参考。方法：通过临床先证者找到新疆维吾尔族非综合征型先天缺牙家系3个、散发病例6人,统计并分析总结家系患者及散发病例缺牙情况及规律,并通过口腔常规检查方法对患者进行临床表现及口腔颌面部发育情况的分析；在患者及其家属知情同意的情况下,采集患者颊黏膜拭子,提取其目的基因组DNA,应用聚合酶链反应技术和DNA测序方法,对Axin2基因进行筛查检测。结果：1、临床分析结果：1)一般情况统计结果示：本研究课题收集的9个家系病例中女性明显多于男性(7：2),散发病例的男女病例为1：5。2)口腔临床检查结果示：除第三磨牙外缺失频率为下颌第二前磨牙上领侧切牙上/下颌第一前磨牙上颌第二前磨牙,先天缺失牙牙位基本呈对称分布。2、Axin2基因测序结果：病例I、Ⅲ、 Ⅳ、Ⅴ、Ⅵ的Axin2基因在外显子2的264位和547位、外显子6第162位和外显子11的922位和1141位有突变。结论：1、本次研究收集的先天缺牙家系遗传方式为常染色体显性遗传伴不完全显。2、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。
[Abstract]:Objective: to analyze three non-syndromic congenital dental defects in Xinjiang Uygur nationality and 6 sporadic cases, and to summarize the regularity of tooth deficiency in non-syndromic Uygur families. Then the locus of Axin2 gene was screened and detected to explore the correlation between the base changes of Axin2 gene and the disease, so as to provide genetic basis and reference for the pathogenesis of this disease in Xinjiang Uygur population. Methods: three non-syndromic congenital dental defects in Xinjiang Uygur nationality and 6 sporadic cases were found by clinical proband. The clinical manifestations and oral and maxillofacial development of the patients were analyzed by routine oral examination, and the buccal mucosal swabs were collected with the informed consent of the patients and their families. The Axin2 gene was screened by polymerase chain reaction (PCR) and DNA sequencing. Results: 1, clinical analysis result: 1) General statistics show that the number of female patients in 9 families collected in this study is significantly higher than that of men (7:2), and the sporadic cases of male and female cases are 1: 5.2) the results of oral clinical examination show that: In addition to the third molar, the frequency of loss was upper / mandibular first premolar maxillary second premolar. The results of sequence analysis showed that the Axin2 gene of I, 鈪，

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