The combination of genomics and medicine has promoted the development of "gene medicine", that is, "molecular medicine". First of all, the implementation of genomics, especially HGP, has made medical scientists have a new understanding of diseases: from the perspective of disease and health, most human diseases are directly or indirectly related to genes, so the concept of "hereditary diseases" has emerged. The proposal of "genetic disease" and the development of genomics will change the current pattern and development direction of pathology; The research on the interaction between environmental factors and gene polymorphism carried out by environmental genomics will make the study of etiology enter a new field. Genomics has also opened up a new field for the development of pharmacology, and pharmacological genomics will promote the development of "new generation drugs". This progress has promoted the progress of disease pathogenesis, clinical disease diagnosis, etiology and therapeutics. There are many techniques to detect human genetic variation or mutation. At present, the most widely used method is "SNPs-" analysis. On the basis of the whole genome SNP map, the disease-related SNPs were identified by comparing the differences between patients and control population, thus "gene medicine" appeared. Combining the concept of "genetic disease" with the principle and technology of functional genomics (transcriptomics), using DNA chip technology to analyze and identify the expression levels of multiple genes related to a certain disease or syndrome group is a parallel molecular genetic analysis. After the completion of genome sequence analysis, a large number of available sequence data (polymorphic probe data, STSs data, cloning data, genetic, physical and integrated map data, restriction fragments, DNA fragments) discovered by HGP will make the cloning of disease-related genes faster and more convenient.
At present, it is believed that all tumors can be attributed to DNA abnormalities. At present, about 30 recessive oncogenes (tumor suppressor genes) and more than 100 dominant oncogenes have been identified. In the past, mapping strategies were often used to find these recessive and dominant oncogenes. However, this strategy has some limitations. With the development of genomics, the published database of genome sequence and protein sequence is growing and expanding, which makes it possible for scientists to propose new strategies for discovering new tumor candidate genes. One of the strategies is to compare the amino acid sequences of known recessive and dominant oncogenes with those deduced from genome sequences. If the two amino acid sequences have more than 50% homology or similarity, then this sequence in the genome may be a new recessive or dominant oncogene. Another strategy is to compare the structure of human genome and tumor genome. The above strategies are also applicable to the research and exploration of other etiology.
Complete genome sequencing will strengthen the identification of all disease-related genes. In the current research of genetic medicine and epidemiology, medical scientists hope to reveal the basic principles of human diseases through the classification of disease-related genes and their products, which has obtained preliminary enlightenment. Etiological investigation and analysis of this epidemic can provide important clues for clinical diagnosis and disease prevention. In addition, exploring the relationship between the functional classification of genomic genes and diseases can also reveal the severity of diseases, genetic patterns, and even predict the life cycle.
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