A major obstacle in applying the progress made in molecular genetics to the practice of medicine is inability to detect mutations rapidly and accurately. At the turn of the millenium, there were already 1000 genes in GenBank known to cause disease, with over 25,000 mutations. To perform genetic screening for known mutations and determine individuals at risk for disease is still a formidable task at an unacceptable cost. The various techniques for detecting mutations are time consuming, expensive, and, ideally, require confirmation by DNA sequencing. Technologies to perform these tasks on a daily basis with results available within a reasonable time from hours to days are essential. Several technologies are evolving, the most promising being the DNA microarray chip.^i Several thousand genes are attached to glass or plastic, and each base is color coded to detect mismatches in hybridization (mismatch mutations; Fig. 7-1). This technique has the potential for robust high-throughput detection of thousands of mutations within hours. Other techniques include high-pressure liquid chromotography and mass spectrometry, both of which also have the potential for high-throughput analysis. Genetic testing of individuals, for example, with familial hypertrophic cardiomyopathy (FHCM) or arrhythmogenic right ventricular dysphasia could prevent the death of thousands of individuals each year in competitive sports. Another use of the DNA chip technology is in the field of pharmacogenomics, or genoptying to individualize therapy. This technique could also provide screening for multiple genes that are up-or down-regulated during the response of a particular organ to various physiologic or pathologic stimuli.
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This ebook provides an introductory explanation of the workings of the human body, with an effort to draw connections between the body systems and explain their interdependencies. A framework for the book is homeostasis and how the body maintains balance within each system. This is intended as a first introduction to physiology for a college-level course.