Study concerning analysis of genes causing oral congenital anomalies

由于唇腭裂在先天性畸形中发病率最高，其发病率仅为0.015%，更不用说口腔先天性异常综合征的发病率，因此仅靠一家研究所分析唇腭裂或口腔先天性异常综合征的基因是非常困难的。我们向爱知学园大学伦理委员会提出申请，获得了投资者的批准。尽可能多的投资者所属的机构获得了批准。研究方法的会议是在第一年与投资者进行的。按照该方法收集基因样本并开始研究。基因样本采集是使用采集血液样本和输入数据的工具进行的，这些数据事先发送给每个投资者3。2004年，对可能导致唇腭裂的基因进行了分析。2005年，在全国范围内收集了除唇裂和腭裂以外的口腔部位先天性异常综合征的病例。获得的样本安全保存在口腔先天性异常基因合作研究中心的口腔疾病致病基因银行室中，同时注意患者隐私。银行室有编码系统、大型低温冷冻室、专用基因样本存储室和指纹识别系统。2004年，由于日本国内没有足够的样本，我们要求海外国家提供基因样本。5 .向境外机构充分说明采集血样的情况，并向境外机构寄送血样采集所需的滤纸、注射器等耗材。从日本人、越南人、蒙古人和缅甸人收集的血液样本中提取DNA，用于基因分析。分析了5,10-甲基四氢叶酸还原酶（MTHFR）基因C677T和A1298C在唇腭裂人群中的多态性，并探讨了该基因多态性与唇腭裂的关系。该研究结果在国际唇腭裂基金会（ICPPF）第四届世界大会上发表。部分研究结果在日本科学促进会“科学研究资助”的支持下发表在“目前的唇腭裂治疗实验研究”（204-213页）上。少

It is very difficult for only one institute to analyze genes causing cleft lip and palate or syndrome of oral congenital anomalies, because the incidence of cleft lip and palate, the highest incidence among congenital anomalies, is only 0.015%, let alone the incidence of syndrome of oral congenital anomalies.1. We applied to the ethical committee of Aich-Gakuin University for the investors belonged obtained the approval. As many institutes as possible to which the investors belonged obtained the approval.2. The meeting for the method of the study was conducted with the investors in the first year. Collecting the gene samples and the study were started following the method. The gene sample collection was conducted using tools for collecting blood samples and for inputting data that were sent to each investor beforehand3. In 2004, analysis of genes probably causing deft lip and palate was started. In 2005, cases of congenital anomaly syndromes in oral region except cleft lip and palate w … More ere collected from nation-wide institutes.4. The obtained samples were securely kept in a banking room of the gene causing oral diseases at the collaborative research center of genes causing oral congenital anomalies, while paying attention to patient's privacy. The banking room has a coding system, large and cryogenic freezer, purpose-built storage for gene sample, and finger print-recognition system.5. In 2004, because enough samples were not obtained in Japan alone, we requested overseas countries to send the gene samples. Full explanation for collecting samples was made to overseas institutes, and consumable goods necessary for collecting blood samples such as filter paper and syringes were sent to those institutes.6. DNA was extracted from the collected blood samples of Japanese, Vietnamese, Mongolian, and Myanmarese, and used in the gene analysis. Both polymorphisms of 5,10- methlenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C were analyzed for cleft lip and palate, and the relations between the polymorphisms and cleft lip and palate were studied.7. The study of the result was presented in the forth world congress of the International Cleft Lip and Palate Foundation (ICPPF). Part of the result was reported in "Current Experimental Study for Treatment of Cleft Lip and Palate" (p 204-213) with support of "Grant-in- Aid for Scientific Research" by Japan Society for the Promotion of Science. Less