Genes related to human diseases are important information for the structural and functional integrity of human genome. For monogenic diseases, the new ideas of "positional cloning" and "positional candidate cloning" have led to the discovery of a large number of genes that cause monogenic diseases such as Huntington's disease, hereditary colon cancer and breast cancer, laying the foundation for gene diagnosis and gene therapy of these diseases. At present, polygenic diseases such as cardiovascular diseases, tumors, diabetes, neuropsychiatric diseases (Alzheimer's disease, schizophrenia) and autoimmune diseases are the focus of disease gene research. Health-related research is an important part of the human genome project. 1997, "Tumor Genome Anatomy Plan" and "Environmental Genome Plan" were put forward one after another.
2. Contribution of Human Genome Project to Medicine
Gene diagnosis, gene therapy and therapy based on genome knowledge, disease prevention based on genome information, identification of susceptible genes, lifestyle of risk population and intervention of environmental factors.
3. Contribution of Human Genome Project to Biotechnology
(1) Genetically engineered drugs: secreted proteins (polypeptide hormones, growth factors, chemokines, coagulation and anticoagulation factors, etc. ) and their receptors.
(2) Diagnostic and research reagent industry: gene and antibody kits, biochips for diagnosis and research, disease and drug screening models.
(3) Promoting cell, embryo and tissue engineering: embryonic and adult stem cells, cloning technology and organ reconstruction.