Release date: 2007-09-13
Human genome sequence ----------------------------------------------- ---------------------------------
Researchers at the Quig Wein Institute and the Children's Hospital of Toronto and the University of California have published the genome sequence of Quig Went, the first genomic sequence in the world to publish a diploid of a single individual. The preliminary analysis report was published in the latest issue of PLOS Biology.
There have been two versions of the human genome, which were released in 2001 by Dr. Went and the collaborators of Sereg Gene and researchers from the American Government Association, but these chromosomes are not by some people, but by Different volunteers donated and did not distinguish between the two copies of each chromosome, or even the DNA of different donors, thus confusing the alleles, so both versions greatly underestimated the human genes. Diversity.
This time, the researchers at the Quig? Went Institute extracted 19 million gene sequences and 13 million additional sequences from Venter's DNA, using genome-wide shotgun methods and advanced genome-binding strategies and software. Sequencing of large fragments of the diploid genome.
There are several different DNA variations in the human genome, the most studied of which are single nucleotide polymorphisms, which are considered to be the most basic variants that determine human characteristics and disease. The study found a total of 4.2 million mutations covering 12.3 million base pairs, of which 3.2 million were single nucleotide polymorphism variants. However, this sequencing also found some genomic variations that were rarely studied, including sequence insertion-deletion, replication of digital variations, and fragment replication. The researchers also found that there were 0.5% differences in the two groups of chromosomes in Venter, suggesting that DNA variation may be more than seven times more than previously thought, and that about 44% of the genes are in copies from each chromosome. There is a genetic difference between them.
In the published paper, the researchers also highlighted some of the characteristics of the Venter genome, such as his APOE sequence and SORL1 gene indicate that it may increase the risk of Alzheimer's disease and cardiovascular disease; and the ABCC11 gene sequence indicates that the text Special ears may produce wet earwax and the like. ——China Medicine 123 Network
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