本文選題：非綜合征性唇腭裂 + p63　； 參考：《青島大學》2017年碩士論文

【摘要】：目的本實驗通過檢測非綜合征性唇腭裂(NSCL/P)患者外周血中p63基因甲基化情況,研究p63基因甲基化狀態(tài)在非綜合征性唇腭裂發(fā)病過程中的作用,為探討非綜合征性唇腭裂的發(fā)病機制提供依據(jù)。方法選擇在青島大學附屬醫(yī)院口腔頜面外科就診的120例非綜合征性唇腭裂患者與90例無先天性發(fā)育畸形的外傷患者作為研究對象,其中唇腭裂患者中,男性58例,女性62例;單純性唇裂31例,單純性腭裂55例,唇裂伴腭裂患者34例;外傷患者男性58例,女性32例,提取其外周抗凝血DNA,通過DNA樣本的Bisulfite處理獲得MSP模板,用DNA甲基化特異性PCR法檢測p63基因甲基化狀態(tài),分別計算先天性唇腭裂患者與外傷患者的p63基因的甲基化陽性例數(shù),應用SPSS 22.0軟件進行χ2檢驗,通過p63甲基化狀態(tài)在非綜合征性唇裂伴(或不伴)腭裂,單純性唇裂、單純性腭裂及唇裂伴腭裂與外傷患者相比較,以及不同唇腭裂類型間p63甲基化陽性率的比較,分析p63基因的甲基化狀態(tài)與非綜合征性唇腭裂患者的相關性。結果120例實驗樣本外周血中基因p63甲基化的陽性率為72.5%(87/120),其對照組中的90例外傷患者外周血液中p63基因甲基化的陽性率為40.0%(36/90)。非綜合征性唇腭裂患者的p63基因甲基化陽性率與外傷患者相比較,差異有統(tǒng)計學意義(χ2=22.386,P0.001),p63基因甲基化狀態(tài)與非綜合征性唇裂伴(或不伴)腭裂患者存在顯著相關性;單純性唇裂患者p63基因甲基化陽性率與外傷患者相比,差異有統(tǒng)計學意義(χ2=4.215,P=0.0400.05),基因p63甲基化狀態(tài)與單純性唇裂有相關性;單純性腭裂患者p63基因甲基化陽性率與外傷患者相比較,差異有統(tǒng)計學意義(χ2=22.085,P0.001),基因p63甲基化狀況與先天性唇裂存在顯著相關性;先天性唇裂伴有腭裂患者p63基因甲基化陽性率與外傷患者相比較中,差異有統(tǒng)計學意義(χ2=9.245,P=0.0020.01),唇裂伴有腭裂與基因p63甲基化狀況存在顯著相關性;單純性唇裂患者p63基因甲基化陽性率與單純性腭裂患者相比,差異無統(tǒng)計學意義(χ2=3.542,P=0.060.05),單純性唇裂與單純性腭裂對p63基因甲基化的敏感性無明顯差異;單純性唇裂患者p63基因甲基化陽性率與先天性唇裂伴腭裂患者相比較,差異無統(tǒng)計學意義(χ2=0.626,P=0.4290.05),先天性唇裂與先天性唇裂伴腭裂對p63基因甲基化的敏感性無明顯差異;單純性腭裂患者的p63基因甲基化陽性率與先天性唇裂伴腭裂患者比較,差異無統(tǒng)計學意義(χ2=1.032,P=0.3100.05),先天性腭裂與先天性唇裂伴腭裂對p63基因甲基化的敏感性無明顯差異。結論p63基因甲基化狀態(tài)與非綜合征性唇腭裂患者的發(fā)生具有相關性,通過對p63基因甲基化與先天性唇腭裂的相關性研究,為實現(xiàn)唇腭裂精確診斷、產(chǎn)前評估、遺傳咨詢等,從根本上預防唇腭裂發(fā)生提供了又一新的依據(jù)。
[Abstract]:Objective to investigate the role of p63 gene methylation in the pathogenesis of non-syndromic cleft lip and palate (NSCL / P) by detecting the methylation of p63 gene in peripheral blood of patients with non-syndromic cleft lip and palate (NSCL / P). To explore the pathogenesis of non-syndromic cleft lip and palate. Methods 120 cases of non-syndromic cleft lip and palate and 90 cases of trauma without congenital malformation were selected from oral and maxillofacial surgery, affiliated hospital of Qingdao University. Among them, 58 cases were males and 62 cases were females. There were 31 cases of simple cleft lip, 55 cases of simple cleft palate, 34 cases of cleft lip with cleft palate, 58 cases of male and 32 cases of female with trauma. The peripheral anticoagulant DNA was extracted and the MSP template was obtained by Bisulfite treatment of DNA sample. The methylation status of p63 gene was detected by DNA methylation specific PCR. The positive cases of p63 gene methylation in patients with congenital cleft lip and palate and trauma were calculated, and 蠂 2 test was performed by SPSS22.0 software. The p63 methylation status was compared between non-syndromic cleft lip with or without cleft palate, simple cleft lip, simple cleft palate and cleft lip with cleft palate with trauma, as well as the positive rate of p63 methylation among different cleft lip and palate types. To analyze the correlation between the methylation status of p63 gene and non-syndromic cleft lip and palate. Results the positive rate of p63 methylation was 72.5% (87 / 120) in peripheral blood and 40.0% (36 / 90) in control group. The positive rate of p63 gene methylation in patients with non-syndromic cleft lip and palate was significantly higher than that in patients with trauma (蠂 ~ 2 = 22.386, P 0.001). There was a significant correlation between the methylation status of p63 gene and non-syndromic cleft lip with or without cleft palate. The positive rate of p63 gene methylation in patients with simple cleft lip was significantly higher than that in patients with trauma (蠂 24.215P 0.0400.05), the status of p63 methylation was correlated with simple cleft lip, the positive rate of methylation of p63 gene in patients with simple cleft palate was higher than that in patients with trauma. The difference was statistically significant (蠂 ~ 2 / 22.085 / P0.001), and there was a significant correlation between p63 methylation and congenital cleft lip, and the positive rate of p63 gene methylation in patients with congenital cleft lip and cleft palate was higher than that in patients with trauma. There was a significant correlation between cleft lip and cleft palate with p63 methylation, and the positive rate of p63 gene methylation in patients with simple cleft lip was higher than that in patients with simple cleft palate. There was no significant difference in p63 methylation between simple cleft lip and simple cleft palate (蠂 2 / 3.542P 0.060.05), and the positive rate of p63 gene methylation in patients with simple cleft lip was higher than that in patients with congenital cleft lip and cleft palate. There was no significant difference in p63 gene methylation between congenital cleft lip and congenital cleft lip with cleft palate (蠂 2 / 0.626), and the positive rate of p63 gene methylation in patients with simple cleft palate was higher than that in patients with congenital cleft lip and cleft palate. There was no significant difference in the sensitivity of p63 gene methylation between congenital cleft palate and congenital cleft lip with cleft palate. Conclusion the methylation status of p63 gene is associated with the occurrence of non-syndromic cleft lip and palate. By studying the correlation between p63 gene methylation and congenital cleft lip and palate, we can achieve accurate diagnosis, prenatal evaluation, genetic consultation and so on. The prevention of cleft lip and palate provides another new basis.
【學位授予單位】：青島大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R782.2

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