4. INTRODUCTION The gene is the basic unit of heredity, and is also a segment of DNA witch contains all the information necessary to synthesize a proteins. In few words the Proteins determines the body's structure and function, butt when this information is altered the people develop a diseases. All diseases have a genetic component, whether inherited or resulting from the body's response to environmental stresses like viruses or toxins. The successes of the HGP have even enabled researchers to pinpoint errors in genes that cause or contribute to disease.
5. Is considered that the human genome should be equal from person to person and should only vary in nucleic acid sequence, giving him the capacity of polymorphism, but now is has been found that this sequence can very from person to person when is making a analysis of genome-widescale.
6. Scientists identified over a thousand of structural variants that disrupt the sequence of one or more genes, those structural tend to happen in different places in the genome and through different molecular processes. The structural variants found are deletions, where genetic material is lost, and insertions, where genetic material is gained.
7. Bay knowing the exact genetic sequence of these variations, help clinical geneticists cant narrow down their searches for disease-causing mutations and new possibilities of treatment can by offer to people why any kind of disease
8. OBSERVATION Bay knowing the molecular etiology of the diseases, it will be possible to approach to the real cause of various diseases and dad way we cant start developing new molecular treatmentsthatprovide an efficient therapy for patients.
9. Proteins are the macromolecules that perform almost all activities of the cell. They are encode in the genes which are also contain in the chromosomes. Today the project Human Proteome Organization HUPO, is working to identify the proteins that the different genes give rise to in the human body.
10. Lund University in Sweden is the responsible for coordinating the mapping of all the proteins of chromosome 19, because they are interested in to identified proteins associated with prostate cancer the are controlled by chromosome 19. There research is also conducted on the possibility of detecting the presence of prostate cancer, brain or lung cancer, diabetes or cardiovascular disease using developments in microchip technology.
11. Knowing the abnormally levels of a certain protein in the bodies of the patients it will be possible to see how this target protein is associated with the development of diseases and search for a effective method to stopped. This kind of search cant live to the designingnew drugs and methods that stop the proteins in question.
12. OBSERVATION The continued investigation of the proteins codification in genes is necessary if we want to have a better understanding on the human body, that way the developing off new and effective medications to patients will be 100%. Other benefit is the real knowledge of protein codification in genes we ken star developing methods of promotional and prevention treatment for the patients.
13. Medical Utility Bay knowing the pinpoint errors in genes we cant develop new ways to treat, cure, or even prevent the thousands of diseases that afflict humankind.
14. Medical Utility Knowing the genetic variants it will be possible to determinate if the genome mutates inherited or ass the result from the body's response to environmental stresses like viruses or toxins, dad way we could prevent a large number of diseases bay promoting god help habits or reducing health exposure.
15. Medical Utility Drug design is being revolutionized as researchers create new classes of medicines based on a reasoned approach to the use of information on gene sequence and protein structure function rather than the traditional trial-and-error method.
16. Bibliography Genetic Sequence of Large-Scale Differences Between Human Genomes ScienceDaily (Feb. 2, 2011). Mapping Proteins on Chromosome 19 ScienceDaily (Feb. 3, 2011). Martínez Sanchez, LM. Biología Molecular. 6 ed. Medellín: UPB. Fac de Medicina 2011. 292p.