Study concerning analysis of genes causing oral congenital anomalies

口腔先天性异常基因分析研究

• 批准号: 16209060
• 负责人: NATSUME Nagato
• 金额: $ 10.98万
• 依托单位: Aichi Gakuin University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (A)
• 财政年份: 2004
• 资助国家: 日本
• 起止时间: 2004 至 2006
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-16209060/
• 关键词: Congenital anomaly; Cleft lip; Cleft palate; Gene analysis; Banking; 口唇口蓋裂; 遺伝子; ゲノム

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

唇腭裂或口腔先天畸形综合征的基因分析，仅由一家机构进行是非常困难的，因为先天畸形中发病率最高的唇腭裂发病率仅为0.015%，更不用说口腔先天畸形综合征的发病率了。1.我们向爱知学院大学伦理委员会提出申请，投资者获得了批准。尽可能多的投资者所属机构获得批准。研究方法的会议在第一年与投资者进行。收集基因样品，并按照该方法开始研究。基因样本的收集是使用收集血液样本和输入数据的工具进行的，这些工具是事先发送给每个投资者的3。2004年，开始分析可能导致唇腭裂的基因。2005年，除唇腭裂外，口腔区域先天性异常综合征病例数 ...更多信息 我们从全国范围内的研究所收集。获得的样本安全地保存在口腔先天性异常基因合作研究中心的口腔疾病基因库中，同时注意患者的隐私。银行室有一个编码系统，大型和低温冰箱，专门为基因样本建造的存储库，以及指纹识别系统。2004年，由于仅在日本没有获得足够的样本，我们要求海外国家发送基因样本。向海外机构充分解释了采集样本的原因，并向这些机构发送了采集血液样本所需的消耗品，如滤纸和注射器。从日本人、越南人、蒙古人和缅甸人的血样中提取DNA，并用于基因分析。分析5，10-亚甲基四氢叶酸还原酶（MTHFR）基因C677 T和A1298 C多态性与唇腭裂的关系.该研究成果已在国际唇腭裂基金会第四届世界大会上发表。在日本科学振兴会“科学研究补助金”的支持下，部分结果在“唇腭裂治疗的当前实验研究”（第204-213页）中进行了报道。少

项目成果

A novel missense mutation in Van der Woude syndrome : Usefulness of fingernail DNA for genetic analysis

Van der Woude 综合征中的一种新型错义突变：指甲 DNA 在遗传分析中的用途

• 发表时间: 2006
• 期刊: Journal of Dental Research 85 (12)
• 作者: Matsuzawa N;Shimozato K;Natsume N;Niikawa N;Yoshiura K
• 通讯作者: Yoshiura K

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate

• DOI: 10.1597/04-145.1
• 发表时间: 2006-05-01
• 期刊: CLEFT PALATE-CRANIOFACIAL JOURNAL
• 作者: Watanabe, Akira;Akita, Sadanori;Yoshiura, Koh-ichiro
• 通讯作者: Yoshiura, Koh-ichiro

Oral disease-related gene bank in the high-tech research center of Aichi-Gakuin University.

爱知学院大学高科技研究中心口腔疾病相关基因库。

• 发表时间: 2005
• 期刊: Aichi-Gakuin Dent.Sci. 18巻
• 作者: Matsuda S;Fushimi K;Hashimoto H;Imanaka Y;Kuwabara K;Horiguchi H;Ishikawa KB;Anan M;Hayashida K;Fujimori K.;NAGATO NATSUME 他10名
• 通讯作者: NAGATO NATSUME 他10名

Interferon Regulatory Factor 6(IRF6) is a Modifier for Isolated Cleft Lip and Palate.

干扰素调节因子 6 (IRF6) 是一种治疗孤立性唇裂和腭裂的调节剂。

• 发表时间: 2004
• 期刊: New Eng J Med 351(8)
• 作者: Zucchero TM;Nagato Natsume;et al.
• 通讯作者: et al.

Research on. 5,10- methlenetetrahydrofolate reductase gene C677T polymorphism of Vietnamese patients with cleft lip and palate

研究。

• 发表时间: 2005
• 期刊: Journal of Dentistry of Aichi-Gakuin University 43(3)
• 作者: Fushimi K.;Ishikawa KB;Hashimoto H.;Horiguchi H.;Kuwabara K;Imanaka Y;Hayashida K;Anan M;Akioka M;Hisatomi Y;Ueda K;Matsuda S.;富田 文仁;Mizuki N;Shiratori K;Waka YOSHIDA
• 通讯作者: Waka YOSHIDA