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These incredible accomplishments in genomics have given rise to two newly named sciences, bioinformatics and proteomics. Bioinformatics is the science of mining the data from the DNA sequences obtained from sequencing. Mining refers to the storage, retrieval, and analysis of the data. Proteomics is the study of the proteome, from proteins of the genome, and refers to the study of the complete set of proteins from a particular
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Figure 13.45 The Gene Chip DNA probe array is a glass wafer containing from sixty- ve thousand to one million or
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more different DNA sequences. The chips are created by photolithographic techniques, similar to those used in computer chip manufacture. The DNA being probed must have uorescent molecules attached to permit rapid screening. (Courtesy of Affymetrix, Inc.)
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III. Molecular Genetics
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13. Genomics, Biotechnology, and Recombinant DNA
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Practical Bene ts from Gene Cloning
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genome. It is the protein analogue to genomics. It is estimated that there are from 50,000 to 2 million different proteins in biological systems, although the number of distinct shapes motifs may only be about ve thousand. The role of proteomics is to characterize all proteins and determine their structures and shapes. As classical genetics worked from phenotype to genotype, modern molecular genetics is working from genotype (genomics) to phenotype (proteomics).
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Ethics
In addition to the expected scienti c and medical information that we will gain from sequencing of the human genome are ethical problems that the project will create. We will shortly have the ability to test people for various genes that we cannot test for now, such as genes for latent diseases like coronary artery disease and cancer. Can insurance companies then demand to test individuals for a whole battery of genes and decide afterward whether that person is insurable or what that person s insurance rates should be Will many persons nd themselves uninsurable because they have genes that might predispose them to cancer Will individuals nd themselves unemployable because of similar problems What should doctors do about diagnosing a genetic disease (such as Huntington disease) that has no cure Should they tell the patient Another ethical issue is the extent to which genetic intervention should be used to change the course of a person s life. With the knowledge of the sequence and location of our genes, and the technology to transfer genes into people, will transgenic people become the norm (see box 13.2) Should we not only cure diseases this way but tailor a person to some ideal Will genetic intervention into our basic genetic blueprint be routine To address these questions, an ethics panel has been set up as part of the Human Genome Project.
substances previously in short supply. These include insulin, interferon (an antiviral agent), growth hormone, growth factors, blood-clotting factors, and vaccines for diseases such as hepatitis B, herpes, and rabies. Advances in AIDS and cancer research are discussed in chapter 16. Genetic engineering is making it possible to manufacture antibodies to diagnose and treat diseases. The sequencing of the human genome will further aid medicine by identifying the genes for various diseases, a rst step in discovering cures. So far, several genes of great importance have been located, cloned, and sequenced. We also pointed out the use of restriction fragment length polymorphisms and the polymerase chain reaction as techniques of tremendous power in identifying individuals for forensic purposes. On another front, transgenic mice and cloned sheep have shown that genetic engineering can be applied to higher organisms ( g. 13.46). The use of this technology to treat human diseases, however, is only just beginning. In July 1990, the National Institutes of Health approved gene therapy treatments on people: A child was infused with cells to replace a gene for the enzyme adenosine deaminase, an enzyme whose absence results in a dysfunctional immune system. Although the latter treatment was successful, it had been augmented by other treatments, rendering the conclusions equivocal. Mice and dogs have had hemophilia B corrected by infusion of a genetically modi ed adenovirus. AIDS, hemophilia, cystic brosis, and diabetes are other diseases that should be amenable to gene therapy in the near future.
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