本文選題：先天缺牙 + Axin2��； 參考：《新疆醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的：對(duì)收集到的3個(gè)新疆維吾爾族非綜合征型先天缺牙家系和6個(gè)散發(fā)病例進(jìn)行臨床分析,總結(jié)非綜合征型維吾爾族家系先天缺牙患者的缺牙規(guī)律,后對(duì)缺牙家系定位Axin2基因位點(diǎn)進(jìn)行篩查檢測(cè),探討Axin2基因的堿基改變與該疾病的相關(guān)性,從而為新疆維吾爾族人群中此類(lèi)疾病的發(fā)病機(jī)理提供基因?qū)W依據(jù)和參考。方法：通過(guò)臨床先證者找到新疆維吾爾族非綜合征型先天缺牙家系3個(gè)、散發(fā)病例6人,統(tǒng)計(jì)并分析總結(jié)家系患者及散發(fā)病例缺牙情況及規(guī)律,并通過(guò)口腔常規(guī)檢查方法對(duì)患者進(jìn)行臨床表現(xiàn)及口腔頜面部發(fā)育情況的分析；在患者及其家屬知情同意的情況下,采集患者頰黏膜拭子,提取其目的基因組DNA,應(yīng)用聚合酶鏈反應(yīng)技術(shù)和DNA測(cè)序方法,對(duì)Axin2基因進(jìn)行篩查檢測(cè)。結(jié)果：1、臨床分析結(jié)果：1)一般情況統(tǒng)計(jì)結(jié)果示：本研究課題收集的9個(gè)家系病例中女性明顯多于男性(7：2),散發(fā)病例的男女病例為1：5。2)口腔臨床檢查結(jié)果示：除第三磨牙外缺失頻率為下頜第二前磨牙上領(lǐng)側(cè)切牙上/下頜第一前磨牙上頜第二前磨牙,先天缺失牙牙位基本呈對(duì)稱(chēng)分布。2、Axin2基因測(cè)序結(jié)果：病例I、Ⅲ、 Ⅳ、Ⅴ、Ⅵ的Axin2基因在外顯子2的264位和547位、外顯子6第162位和外顯子11的922位和1141位有突變。結(jié)論：1、本次研究收集的先天缺牙家系遺傳方式為常染色體顯性遺傳伴不完全顯。2、Axin2基因片段中某些編碼基因的改變可能與維吾爾族單純型先天缺牙存在相關(guān)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，

本文編號(hào)：2072386