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James M. Rusnak, MD, PhD, Robert M. Kisabeth, MD, David P

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1 Pharmacogenomics: A Clinician's Primer on Emerging Technologies for Improved Patient Care 
James M. Rusnak, MD, PhD, Robert M. Kisabeth, MD, David P. Herbert, BA, Dennis M. McNeil, MBA  Mayo Clinic Proceedings  Volume 76, Issue 3, Pages (March 2001) DOI: / Copyright © 2001 Mayo Foundation for Medical Education and Research Terms and Conditions

2 Figure 1 Examples of genetic variation. A single base pair change is either a single nucleotide polymorphism (SNP) (frequency ≥1% in a population) or a point mutation (frequency <1%). The consequences of a SNP are (1) none (no change in transcribed amino acid due to the degeneracy [several codons encode the same amino acid] of the genetic code or no functional significance of the amino acid substitution); (2) minimal effect (amino acid substitution results in little functional difference in protein structure/function); or (3) significant effect on protein structure, function, or response to endogenous agents or drugs. Mayo Clinic Proceedings  , DOI: ( / ) Copyright © 2001 Mayo Foundation for Medical Education and Research Terms and Conditions

3 Figure 2 Example of DNA probe array developed for the detection of single nucleotide polymorphisms (SNPs). Mayo Clinic Proceedings  , DOI: ( / ) Copyright © 2001 Mayo Foundation for Medical Education and Research Terms and Conditions

4 Figure 3 Pharmacogenomics hypothetical approach to treating patients with high blood pressure. Rx = treatment; SNPs = single nucleotide polymorphisms. Mayo Clinic Proceedings  , DOI: ( / ) Copyright © 2001 Mayo Foundation for Medical Education and Research Terms and Conditions


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