Human Genome Project (HGP)
HGP’s research content
The main task of HGP is human DNA sequencing, including the following figure The four spectra shown are in addition to sequencing technology, human genome sequence variation, functional genomic technology, comparative genomics, social, legal, ethical research, bioinformatics and computational biology, education and training and other purposes.
1. Genetic map (genetic map)
Also known as linkage map, it is characterized by genetic polymorphism (more than one genetic locus) Alleles, with frequencies above 1% in the population, are genetic markers that are used as "signposts", measured by genetic distance (the percentage of exchange and recombination between two loci during meiosis events, 1% The recombination rate is called 1cM) is the genome map of the map distance. The establishment of genetic maps creates conditions for gene identification and gene mapping. Significance: More than 6,000 genetic markers have been able to divide the human genome into more than 6,000 regions, so that linkage analysis can find evidence that a certain disease-causing or phenotypic gene is adjacent (closely linked) to a certain marker, so that it can be The gene was located in this known region, and the gene was isolated and studied. For diseases, finding genes and analyzing genes are key.
2. Physical map (physical map)
A physical map refers to information about the arrangement and spacing of all genes that make up the genome. It is based on the measurement of the DNA molecules that make up the genome. And drawn. The purpose of drawing a physical map is to linearly and systematically arrange the genetic information about genes and their relative positions on each chromosome. The physical map of DNA refers to the arrangement order of the restriction fragments of the DNA chain, that is, the positioning of the restriction fragments on the DNA chain. DNA is a very large molecule, and the DNA fragments produced by restriction enzymes for sequencing reactions are only a very small part of it. The position of these fragments in the DNA chain is a problem that should be solved first, so the physical map of DNA is a sequence. The basis of determination can also be understood as a blueprint to guide DNA sequencing. Broadly speaking, DNA sequencing starts with the production of physical maps, which is the first step in sequencing work. There are many methods for making a physical map of DNA. Here we choose a commonly used and simple method - partial enzymatic hydrolysis of labeled fragments to illustrate the principle of map making.
3. Sequence map
With the completion of genetic map and physical map, sequencing has become the top priority. DNA sequence analysis technology is a multi-stage process including preparation of DNA fragmentation, base analysis, and DNA information translation. Obtain the sequence map of the genome through sequencing.
4. Gene map
A gene map is a map drawn based on identifying the protein coding sequences contained in the genome and combining information about gene sequences, locations and expression patterns. The most important method to identify the location, structure and function of all genes accounting for 2% to 5% of the length of the human genome is to trace the gene's expression product, mRNA, back to the chromosomal location.
The significance of the genetic map is that it can effectively reflect the spatiotemporal pattern of the entire gene expressed under normal or controlled conditions. Through this picture, we can understand the expression of a certain gene in different tissues and at different levels at different times; we can also understand the expression of different genes in a tissue at different times and at different levels; we can also understand the expression of a certain gene in different tissues at a specific time. Different genes are expressed at different levels.
The importance of HGP to humans
1. Contribution of HGP to human disease gene research
Human disease-related genes are structurally and functionally complete in the human genome Sexually important information. For single-gene diseases, the new ideas of "positional cloning" and "positional candidate cloning" have led to the discovery of a large number of causative genes for single-gene genetic diseases such as Huntington's disease, hereditary colon cancer, and breast cancer, which have provided new insights into the treatment of these diseases. Genetic diagnosis and gene therapy laid the foundation. Polygenic diseases such as cardiovascular diseases, tumors, diabetes, neuropsychiatric diseases (senile dementia, schizophrenia), and autoimmune diseases are currently the focus of disease gene research.
Health-related research is an important part of HGP. In 1997, the "Tumor Genome Anatomy Project" and "Environmental Genomics Project" were successively proposed.
2. HGP’s contribution to medicine
Gene diagnosis, gene therapy and treatment based on genomic knowledge, disease prevention based on genomic information, identification of disease susceptibility genes, and the lives of risk groups intervention of methods and environmental factors.
3. HGP’s contribution to biotechnology
(1) Genetically engineered drugs: secreted proteins (polypeptide hormones, growth factors, chemokines, coagulation and anticoagulation factors, etc.) and its receptors.
(2) Diagnostic and research reagent industry: gene and antibody kits, biochips for diagnosis and research, disease and drug screening models.
(3) Promotion of cell, embryo, and tissue engineering: embryonic and adult stem cells, cloning technology, and organ reconstruction.
4. Contribution of HGP to the pharmaceutical industry
Screening drug targets: combined with combinatorial chemistry and natural compound separation technology, establishing high-throughput receptor and enzyme binding experiments to Knowledge-based drug design: advanced structural analysis, prediction, and simulation of gene protein products—the "pocket" of drug action. Personalizing drug therapy: pharmacogenomics.
5. The important impact of HGP on social economy
The bio-industry and the information industry are the two major economic pillars of a country; the social and economic benefits of discovering new functional genes; genetically modified foods; Genetically modified drugs (such as weight-loss drugs, height-increasing drugs)
6. The impact of HGP on biological evolution research
The evolutionary history of organisms is inscribed in the "book of heaven" of each genome; Cao Lv Insects are relatives of humans - 1.3 billion years ago; humans evolved from a kind of monkey 3 to 4 million years ago; humans first "walked out of Africa" ??- ancient apes 2 million years ago; humans' "Eve" Came from Africa, 200,000 years ago—the second "out of Africa"?
7. The negative effects of HGP
Jurassic Park is not just a science fiction story; racially selective biological weapons of extermination; gene patent wars; plundering wars for genetic resources; genes and personal privacy.