The Establishment Of The Chinese Minority Genomic Dna Library And Cyp2d6 Polymorphisms In The Uyghur Population Distribution

[Background]With the development of economy and increasing integration of all ethnic groups, the pure genetic resources in China is decreasing day after day. It becomes an urgent need to increase the protection of genetic resources of minority, since the outflow of genetic resources from China is increasingly valuable. In view of this situation, the genomic DNA sample database of 56 Chinese ethnic groups should be established. It will fully preserve, effectively protect and reasonably explore Chinese minority genetic resources with founding this database. Using the DNA database legally can promote equal collaboration and research between domestic and foreign scholars. Furthermore, these precious human genetic resources will provide significant information of ethnic origins, cultural characters, migrations and evolvements of the ancient ethnic populations in China. On the other hand, the genomic DNA database can offer meaningful clues about the dynamics of pharmaceutical metabolism in individuals and some genetic diseases.In the recent years, genetic pharmacology has become a hot researching topic in the field of medicine. In particular, the relationships between genetic factors and the occurrence of adverse drug reactions have been paid attention on.The polymorphism of Drug-metabolizing enzymes is the main reason accounting for drug efficacy and adverse reactions among individuals. The minority groups in China have their own unique genetic characteristics, which inevitably leads to it that the same drugs applied in different ethnic groups will induce different effects and even adverse effects on different individuals. Therefore, clarifying the genetic characteristics which relate to the drug metabolism in every ethnic group is the best way to optimize the therapeutic dose, to reduce the adverse drug reactions and to promote the using minority traditional medicine in clinic.According to the records of adverse reactions,59% of adverse drug reactions are caused by polymorphic enzymes; among them,86% of the total number of adverse drug reactions are caused by the polymorphism of P450. Cytochrome P4502D6 (CYP2D6), an phase I drug-metabolizing enzyme, oxidizes and metabolizes 20-30% of clinically important drugs. A large number of studies have shown that CYP2D6 is one of the most polymorphic drug-metabolizing enzymes.Investigating CYP2D6 genetic polymorphism in Chinese ethnic groups is the theoretical basis for promoting the development of minority traditional medicine. Moreover, it is the requirement for reducing the incidence of adverse drug reactions. Thirdly, it is the scientific database for using drugs on the base of personal gene. Lastly, it is also an important means for studying the susceptibility of the genetic diseases in Chinese ethnic groups.In this research, the distributing pattern of CYP2D6 gene polymorphism in Uighur population was studied.[Methods]The healthy freshmen of Minzu university of China were enrolled under the protocol approved. The study protocol was explained in detail to all volunteers, and written informed consent was obtained from all participants. Blood samples were collected according to the clinical standards, and then, we extracted genomic DNA from blood with non-centrifuge column method, numbering in accordance with standards for human genetic resources. Exclude the broken and degradative genomic DNA samples after being detected by ultraviolet spectrophotometry and by agarose gel electrophoresis. All of the genomic DNA samples were preserved under-80℃condition. Until now, the preliminary framework of the database-database of China's 55 ethnic minority group's genomic DNA sample has been set up.In this study, firstly, we cloned the sequences of the 9 extrons of CYP2D6 gene separately, and then, we cloned the whole sequence of the CYP2D6 gene. Direct sequencing to analysis all of the sequences mentioned above, DNAMAN and Primer 5.0 to analysis bioinformatics and finally, we determine the SNP frequencies in the Uighur population.[Results]1. Preliminary framework for China's ethnic minorities DNA sample database has been set up. The database covers more than 30 ethnic groups and 765genomic DNA samples, including Korean, Mongolian, Dai, Kazak, Uygur, Miao, Hui, Tibetan, Tujia, Yi, Dong, Qiang, Zhuang, Yao, De'ang, Naxi, Xibe, Bai, Kirgiz, Manchu, Hani, Buyi, Gelao, She, Li, Shui, Achang, Han Chinese, Uzbeks, Yugur and so on.2. Frequency analysis:in this study we screened 2 allelic variants of which have been reported and 13 novel allelic variants, among them, the reported 2 allelic variants are CYP2D6*2 and CYP2D6*10D, the distribution is 10% and 15% respectively. The frequencies of the other 13 novel allelic variants run from 5% to 10%. [Conclusion]1. Initially built genomic DNA samples database of Chinese Ethnic groups.2. As to the frequencies of CYP2D6 among different ethnic groups, there the significant differences exist in.