Mapping and Sequencing the Human Genome (1988) / Chapter Skim
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3. Implications for Medicine and Science
3. Implications for Medicine and Science
Pages 26-33
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From page 26... ...
In nearly all of these cases the disease gene codes for a known protein. For diseases in which the responsible protein has been identified, it is now regularly possible, with recombinant DNA methods, to clone the gene and begin to understand the genetic defect.
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From page 27... ...
These are but a small subset of the numerous Mendelian disorders for which direct genetic analysis offers the best hope of identifying the responsible genes. The availability of various types of maps of the human genome would greatly facilitate the search for genes related to specific inherited diseases.
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From page 28... ...
to improved prenatal diagnosis of serious conditions by direct DNA analysis. Finally, the ability to determine whether individuals are carriers for specific gene defects will facilitate various epidemiological investigations of the risks associated with specific environmental factors, occupational settings, or drugs.
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From page 29... ...
Other oncogenes encode proteins that are involved in the intracellular response of cells to growth stimulators. As a result of these findings, primary questions regarding cell growth and human cancer have come into sharp focus: What normal human proteins are involved in cell growth and how do they act?
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From page 30... ...
A physical map of the human genome will provide the basis for experimentation into the identity and role of these and other elements. The study of genome organization, that is, the order in which genes occur along a chromosome and their relations to various other components, will be enhanced by the existence of a physical map.
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From page 31... ...
As a second approach, genes often share homologies with one another on the basis of common evolutionary history; these homologies have been successfully exploited in a number of areas, for example, to identify related family members of lymphokines, to find new receptor proteins for neurotransmitters, and to find genes that may play important roles in pattern formation in development. Many sequence motifs that encode protein domains with a similar function have been identified, such as the common domain found in all protein kineses.
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From page 32... ...
be homologous among those genes that are coactivated. The sequence analysis of the human genome, and its comparison with the sequence of other mammalian genomes such as the mouse, should allow us to identify very large number of regulatory DNA sequences.
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From page 33... ...
1982. Codon preference and its use in identifying protein coding regions in long DNA sequences.
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