The human genome: a prospect for pediatrics
For many years, researchers thought that the task of understanding the entire human genome, or genetic material (DNA), was next to impossible, but with advanced molecular biology and genetics techniques, the solution appears to be on the horizon. This article provides an encyclopedic review of the current knowledge of the human genome, the meaning of linkage analysis and genetic polymorphism, the development of laboratory techniques used to detect polymorphism, and future prospects. The author is quick to point out that the clinical relevance exists in isolating defective genes and analyzing their role in disease, not just discovering their location on the chromosomes. Several diseases, including muscular dystrophy, retinoblastoma, and, most recently, cystic fibrosis, have been characterized in this manner. Then the defective protein product of the gene may be identified, which will permit screening individuals for DNA mutations indicative of a particular disease and the development of new treatment strategies. The author cautions, however, that an understanding of a disease on the molecular level does not insure a molecular approach to a cure or prevention. Perhaps the most important hope for pediatricians is that the molecular genetic basis of diseases affecting children, such as asthma, epilepsy, diabetes mellitus and some congenital deformities, will be disclosed. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Archives of Disease in Childhood
What is the human genome mapping project?
The mapping of the human DNA sequence has been achieved by a US biotech company. The importance of this discovery to human health issues such as disease prevention, the patenting of genes and the prediction of inherited diseases is discussed.
Publication Name: Nursing Times
Of methods and mapping
This article discusses the history and progress of the Human Genome Project. It looks forward to completion and anticipates clinical applications, particularly in the treatment of cancer.
Publication Name: Nature Medicine
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