p63基因甲基化与非综合征性唇腭裂的相关性研究

发布时间：2018-06-24 01:42

  本文选题：非综合征性唇腭裂 + p63　； 参考：《青岛大学》2017年硕士论文

【摘要】：目的本实验通过检测非综合征性唇腭裂(NSCL/P)患者外周血中p63基因甲基化情况,研究p63基因甲基化状态在非综合征性唇腭裂发病过程中的作用,为探讨非综合征性唇腭裂的发病机制提供依据。方法选择在青岛大学附属医院口腔颌面外科就诊的120例非综合征性唇腭裂患者与90例无先天性发育畸形的外伤患者作为研究对象,其中唇腭裂患者中,男性58例,女性62例;单纯性唇裂31例,单纯性腭裂55例,唇裂伴腭裂患者34例;外伤患者男性58例,女性32例,提取其外周抗凝血DNA,通过DNA样本的Bisulfite处理获得MSP模板,用DNA甲基化特异性PCR法检测p63基因甲基化状态,分别计算先天性唇腭裂患者与外伤患者的p63基因的甲基化阳性例数,应用SPSS 22.0软件进行χ2检验,通过p63甲基化状态在非综合征性唇裂伴(或不伴)腭裂,单纯性唇裂、单纯性腭裂及唇裂伴腭裂与外伤患者相比较,以及不同唇腭裂类型间p63甲基化阳性率的比较,分析p63基因的甲基化状态与非综合征性唇腭裂患者的相关性。结果120例实验样本外周血中基因p63甲基化的阳性率为72.5%(87/120),其对照组中的90例外伤患者外周血液中p63基因甲基化的阳性率为40.0%(36/90)。非综合征性唇腭裂患者的p63基因甲基化阳性率与外伤患者相比较,差异有统计学意义(χ2=22.386,P0.001),p63基因甲基化状态与非综合征性唇裂伴(或不伴)腭裂患者存在显著相关性;单纯性唇裂患者p63基因甲基化阳性率与外伤患者相比,差异有统计学意义(χ2=4.215,P=0.0400.05),基因p63甲基化状态与单纯性唇裂有相关性;单纯性腭裂患者p63基因甲基化阳性率与外伤患者相比较,差异有统计学意义(χ2=22.085,P0.001),基因p63甲基化状况与先天性唇裂存在显著相关性;先天性唇裂伴有腭裂患者p63基因甲基化阳性率与外伤患者相比较中,差异有统计学意义(χ2=9.245,P=0.0020.01),唇裂伴有腭裂与基因p63甲基化状况存在显著相关性;单纯性唇裂患者p63基因甲基化阳性率与单纯性腭裂患者相比,差异无统计学意义(χ2=3.542,P=0.060.05),单纯性唇裂与单纯性腭裂对p63基因甲基化的敏感性无明显差异;单纯性唇裂患者p63基因甲基化阳性率与先天性唇裂伴腭裂患者相比较,差异无统计学意义(χ2=0.626,P=0.4290.05),先天性唇裂与先天性唇裂伴腭裂对p63基因甲基化的敏感性无明显差异;单纯性腭裂患者的p63基因甲基化阳性率与先天性唇裂伴腭裂患者比较,差异无统计学意义(χ2=1.032,P=0.3100.05),先天性腭裂与先天性唇裂伴腭裂对p63基因甲基化的敏感性无明显差异。结论p63基因甲基化状态与非综合征性唇腭裂患者的发生具有相关性,通过对p63基因甲基化与先天性唇腭裂的相关性研究,为实现唇腭裂精确诊断、产前评估、遗传咨询等,从根本上预防唇腭裂发生提供了又一新的依据。
[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.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R782.2

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