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Qinghe XING
Ph. D, Professor, Principal Investigator
Ph.D. (1997-2000) Shanghai Medical University
Postdoctoral (2000-2003) Chinese Academy of Sciences
Email: xingqinghe@sjtu.edu.cn |
INTRODUCTION:
There are three major foci of genomics group current research. The first major project took up the mechanism of pigmentary disorders. Currently, we are working on several of these diseases, including Dyschromatosis Symmetrica Hereditaria (DSH), generalized lentiginosis (GL), and freckles. We have successfully mapped the DSH gene and GL gene to the Chromosome 6q24.2-q25.2 and 4q21.1- q22.3 respectively. Recently we have found a new gene that is responsible for DSH. We are trying to express the mutated gene in vitro and to create a transgenic animal with the mutation. Furthermore, we are carrying out linkage analysis in other pigmentary disorders families.
The second focus of genomics group research is collection, conservation and utilization of isolated population. We have collected more than 8, 000 DNA samples of isolated population, and established digitized administrative system and information database. Due to the small number of founders, the total gene pool and therewith the number of different genes involved in a trait is limited. This increases the chances of success of genetic research considerably. Genetic variation will be reduced further as a consequence of genetic drift. For this reason, the isolated population is more favorable to unravel the genetics of a complex disease. We are using these samples to carry out studies of hypertension.
The third major theme is pharmacogenomics. In our previous work in this area we accomplished the following: (1) The association study demonstrated that response to chlorpromazine treatment may be associated with polymorphisms of the DRD2 gene in Chinese schizophrenic patients. (2) The association study betweent CYP2D6 and MDR-1 polymorphisms and therapeutic effect of risperidone. We are currently working to purify the distribution of functional polymorphism in drug metabolism Enzyme genes in different races, including Han, Dong, She, Miao, Zhuang, etc. These studies aim at elucidating the variation of drug metabolism enzyme activity in these different races.
Pharmacogenetics
1) The study of the polymorphisms of the genes coding key drug metabolism enzymes in the CYP3A family and the UDP-glucuronosyl transferase (UGTs) family. The profiling of these polymorphisms in different ethnic groups and populations with different surnames, and the indification of several new functional polymorphisms.
2) The study of the gene polymorphisms in DRD2, DRD3, DRD4, CYP2D6, CYP3A5, 5-HT2A, 5-HT2C, DAT1, ABCB1 and their effect on clinical response. The side effect of chlorpromazine and risperidone caused by these polymorphisms is also being studied. The genetic mechanism underlying the variable individual response to drugs is related to population genetics, and pharmacogenomics research can therefore contribute significantly to the more efficacious prescription of medicines for the Chinese population. Collection, storage and utilization of genetic resources from isolated populations. The team has collected lots of DNA samples from isolated populations and also established a sample information database. Isolated populations are more suitable for the study of complex diseases/traits. These projects thus create increasingly favorable conditions for further study of isolated populations. The study of the pathogenesis of pigment disturbance in humans. The relevant genes of Dyschromatosis Symmetrica Hereditaria (DSH) and Generalized Lentiginosis (GL) are respectively located at 6q24.2-q25.2 and 4q21.1- q22.3. The team is currently conducting systematic functional studies of potential candidate genes as well as genetic studies of other pigment disturbances in sample pathogenic families.
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