Study concerning analysis of genes causing oral congenital anomalies

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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