A recent genetic study used reverse genetics to explore gene function, allowing researchers to assess the phenotype of human genetic loss-of-function mutations. The study, published in the 12th issue of the British journal Nature, marks the beginning of the goal of large-scale research on human gene function and has laid the foundation for it.
Scientists have long known the function of genes by knocking out key genes in model animals and then studying the changes that occur after knockout.
However, in modern genetics, there is another cognitive line—the precise structure of genes that are purposefully and precisely targeted by techniques such as DNA recombination to determine the direct effects of these changes on phenotypic traits. Since this route is the opposite of classical genetics, this new field is a subdiscipline of genetics and is called reverse genetics. Both of these approaches have helped to develop a “human gene knockout program†that accelerates the understanding of human gene function.
This time, Sike Kesleyson, a scientist at the Harvard-MIT Institute of Technology, and his colleagues used reverse genetics to treat 10,503 people living in Pakistan (the close relatives in the region have a higher marriage rate, The gene coding region of progeny prone to genetic mutations caused by gene mutations was sequenced and analyzed, and about 50,000 mutations were identified. The reverse presumption is equivalent to efficiently collecting the results found by positive knockout of 1317 genes, instead of directly using The traditional practice of gene knocking out human models to find mutations has greatly improved efficiency.
The team then determined whether these changes were related to the approximately 200 characteristics found in the blood samples. In the proof-of-concept study, they conducted further tests with patients carrying mutations in a gene, indicating that this particular genetic change improves the ability to clean up dietary fat in the body's circulation, thereby reducing cardiovascular disease.
This study demonstrates the potential of this reverse genetics approach and provides another important path for further implementation of the Human Gene Knockout Program. The project will help to assess more biochemical phenotypes and clinical phenotypes of human genomic gene loss-of-function mutations. At the same time, with the completion of data from the human gene pool and the decline in research costs, a large gene knockout database is likely to be completed and put into use within five years.
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