TAILIEUCHUNG - Chapter 062. Principles of Human Genetics

The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technological advances. They include, among others, the elucidation of the DNA double-helix structure, the discovery of restriction enzymes and the polymerase chain reaction (PCR), the development and automatization of DNA sequencing, and the generation of genetic and physical maps by the Human Genome Project (HGP). The consequences of this wealth of knowledge for the practice of medicine are profound. To date, the most. | Chapter 062. Principles of Human Genetics The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technological advances. They include among others the elucidation of the DNA double-helix structure the discovery of restriction enzymes and the polymerase chain reaction PCR the development and automatization of DNA sequencing and the generation of genetic and physical maps by the Human Genome Project HGP . The consequences of this wealth of knowledge for the practice of medicine are profound. To date the most significant impact of genetics has been to enhance our understanding of disease etiology and pathogenesis. However genetics is rapidly playing a more prominent role in the diagnosis prevention and treatment of disease Chap. 64 . Genetic approaches have proven invaluable for the detection of infectious pathogens and are used clinically to identify agents that are difficult to culture such as mycobacteria viruses and parasites. In many cases molecular genetics has improved the feasibility and accuracy of diagnostic testing and is beginning to open new avenues for therapy including gene and cellular therapy Chaps. 65 and 67 . Molecular genetics has already significantly changed the treatment of human disease. Peptide hormones growth factors cytokines and vaccines can now be produced in large amounts using recombinant DNA technology. Targeted modification of these peptides provides the practitioner with improved therapeutic tools as illustrated by genetically modified insulin analogues with more favorable kinetics. There is hope that a better understanding of the genetic basis of human disease will also have an increasing impact on disease prevention. Genetics has traditionally been viewed through the window of relatively rare single-gene diseases. Taken together these disorders account for 10 of .

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