The sequence diagram of human genome is a remarkable achievement, and it is the organic integration of the most advanced disciplines and technologies in the contemporary world, such as biology and information. The Human Genome Project began in 1990, and a large number of scientific research institutions from six countries have participated in this complex project. At the beginning of the research project, it costs $65,438+00 to fully confirm a base pair. A trained technician can only sequence 65,438+00,000 base pairs a day. With the rapid development of science and technology, the cost of a base pair has dropped to 5 cents. Using robot sequencing, its efficiency is 10000 base pairs per second. With the sincere cooperation of experts from all over the world, the Human Genome Project completed the "working frame map" of the human genome sequence in June 2000, published the "detailed map" in February 2002, and this time launched the "completed map". From "frame diagram" to "completion diagram", the sequencing range of human genome has increased from 90% to 99%, and the error rate based on base pairs has decreased from11000 to1/000. Scientists have found that the number of human genes is about 34,000 to 35,000, only 20,000 more than that of fruit flies, far less than the original estimate of 654.38+10,000 genes. Gene is the basic unit of life inheritance, and the human genome contains 3 billion base pairs. Drawing the sequence diagram of human genome is equivalent to mastering the signpost of exploring the maze of human life.
The completion of human genome sequence diagram has many important significance and practical value.
First of all, it provides a very important platform for human beings to know themselves. Through the study of gene sequence, we can further distinguish the physiological similarities and differences between people and nations. Experts said that the next goal of human genome research is the human genome haplotype project, and scientists from the United States, Britain, Japan, Canada and China have been working on this project. The haplotype mapping plan of human genome aims to analyze the differences of major human groups, and further analyze all the sequence differences related to diseases on this basis, so as to lay the foundation for "personal medicine" in 2 1 century.
Secondly, it will cause a "complete revolution" in biological research. Before the gene era, dozens of graduate students in the biology department of the university spent several years analyzing the function of a gene, but now they can display the same information just by clicking a few computer keyboards. Since the beginning of the Human Genome Project, the number of genes identified as causing human diseases has exploded, from less than 100 in 1990 to more than 1400 today.
Third, it may push human society into a "new era of biopharmaceuticals" and provide shortcuts for curing many intractable diseases. Scientists believe that by analyzing the individual DNA of patients, it is possible to design specialized drugs or vaccines that will not cause side effects in the future, thus achieving 100% of the right medicine. In the near future, genetic engineering drugs, gene therapy and biochip diagnosis technology will have extremely broad application prospects. The United States is stepping up its efforts to seize the commanding heights in this regard, and 350 new drugs based on genetic research have been put into production.
Fourth, it is also conducive to energy development and environmental protection. The U.S. Department of Energy is using the achievements of the Human Genome Project to strengthen the research on the functions of single-celled organisms. For example, using advanced computer sequencing technology to find some microorganisms to see if they can help clean up nuclear waste, make gasoline burn more thoroughly, or simply replace it as a source of fuel hydrogen. As early as 1990, the US government launched the "Human Genome Mapping Project". 2001February 12, scientists from China, the United States, Japan, Germany, France and Britain jointly published the human genome map and preliminary analysis results. As the authority of modern life science and genome science, the human genome project was successfully implemented in the past 10 years with the promotion of james watson and others.
Despite the genome map of all mankind, everyone's genome is different. When will people have their own genome map? The answer is 2007. On May 30th, 79-year-old Watson became the first individual in the world to obtain his own genome map. The number of human genetic variations found in this decoding process is much richer than previously thought. At the same time, Venter's private biotechnology company, a "freak" in the field of biological science, has also made its own personal genome map.
1953 In March, Watson and francis crick discovered the double-stranded molecular structure of DNA, which opened the way for human beings to explore the genetic secrets of life. Watson is therefore called "the father of DNA". Fifty-seven years later, an American gene technology company gave Watson a CD, which recorded the arrangement position of 3 billion base pairs in tens of thousands of human genes on the double-stranded DNA in Watson's cell. This is Watson's personal genome map.
George Churchill of Harvard University even announced that he would make his own personal genome map for 10 volunteers. It seems that the individualization of genome map is spreading step by step.
In fact, with the personal genome map, scientists can infer from the gene sequence whether this person is shy, whether he will suffer from mental illness and other characteristics related to genetic inheritance. It seems that mapping the individual genome has unparalleled detection advantages.
In addition to the price factor, there are other advantages compared with traditional genetic testing. Richard Gibbs, a geneticist at Baylor University in the United States, believes that genetic testing is targeted and limited, and can only confirm whether the gene being tested is one of the known genetic variations. If you draw a personal genome map, you can compare it with the human genome map benchmark and find any abnormalities.
In fact, the birth of Watson and Venter's personal genome map means that ordinary people will soon have their own genome map. At that time, everything about you, every basic question about nature and even the environment will be answered in genes, and a personalized and figurative genomics era is coming. Note the difference of 0. 1%
After scientists completed the human genome map, personalized genome map became a new goal. After all, the human genome map belongs to many people, with reference genes, but no specific information about individuals. 99.9% of the genomes of all people on the earth are the same, and this genome map is called reference sequence. But what affects individuals may be in the difference of 0. 1%.
Therefore, the biggest breakthrough in genetics in 2007 is not technology, but individualization. What scientists have accomplished is a leap from a conceptual person to a concrete individual. Only in this way can we prevent and treat diseases in a targeted manner. After the publication of Watson's genome map, we can know that Watson may have Alzheimer's disease. This can make preparations in advance and take some preventive measures.
Although few individuals have obtained the personal genome map, it points out a direction for us, and each of us will have one-to-one information. Moreover, the technology of genome sequencing will continue to improve and the cost will continue to decrease.
China people also have their own personal genome map, which is "Yanhuang No.1". "Yanhuang No.1" does not claim to target any individual in China, but Huada Gene has the technology and ability to map individual genomes.
-Bai Yujie (Professor of Dino Center for Genetics and Genomics Medicine, Zhejiang University) is the first Asian genome sequence map.
On June 65438+1October1day, 2007, shenzhen huada gene research institute held a press conference and announced that they had successfully drawn the first complete genome map of China, namely "Yanhuang No.1". This is the first Asian genome sequence map.
Previously, Chinese scientists undertook the tasks of International Human Genome Project 1% and International Human Haplotype Map 10%. With the new progress of sequencing technology, the process of decoding life is greatly accelerated, the cost is reduced by several orders of magnitude, and the time is greatly shortened. On this premise, the cooperative research team put forward "Yanhuang Project", that is, the research idea of mapping China human genome sequence map and polymorphism map.
In the researchers' view, genetic maps of different ethnic groups are essential. Because heredity ensures the continuation of life, mutation produces differences between different species and people. Different ethnic groups have their own unique genetic background, and their susceptibility to different diseases may be different. Only by truly understanding the relationship between genes and diseases can we predict and detect diseases according to each individual's genes, and make prevention plans or targeted treatments as soon as possible.
So, by the beginning of 10 in 2007, researchers independently completed the first 100% genome map of China by using the new generation sequencing technology. Experts said that this landmark scientific achievement in the field of genome science plays an important role in the research of DNA, recessive disease genes and epidemic prediction in China and even in Asia. And researchers have also planned the next research work, which will analyze hundreds or even more individual genomes and discover the rules of Asian genome polymorphism.