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Technologies for Individual Genotyping

Detection of Genetic Polymorphisms in Drug Targets and Disease Genes

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American Journal of Pharmacogenomics

Abstract

Genetic variations have been associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification and pharmacogenetics. Commonly used gel electrophoresis-based genotyping methods for known polymorphisms include polymerase chain reaction (PCR) coupled with restriction fragment-length polymorphism analysis, allele-specific amplification, and oligonucleotide ligation assay. Fluorescent dye-based DNA fragmentation has been extensively used for high-throughput microsatellite or short tandem-repeat genotyping. TaqMan®1 and molecular beacon genotyping are commonly used homogeneous solution hybridization technologies. Because of the ease of experimental assay design, single nucleotide polymorphism (SNP) genotyping methods based on single-base extension are in rapid development, such as fluorescence homogenous assays, pyrosequencing and mass spectrometry. Non-PCR based genotyping assays such as Invader™ assays are promised to genotype directly from genomic DNA without the requirement of PCR amplification. The DNA microarray is a solid phase genotyping format that is rapidly developing for parallel genotyping of a large number of SNPs simultaneously.

Advanced technologies to identify genetic polymorphisms rapidly, accurately, and cost effectively will fundamentally change the practice of medicine by allowing physicians to prescribe medicine based on a patient’s genetic make-up.

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Acknowledgements

The author is employed by Sequenom Inc., San Diego, CA, USA.

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  1. Sequenom Inc., 3595 John Hopkins Court, San Diego, California, 92121, USA

    Michael M. Shi

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Shi, M.M. Technologies for Individual Genotyping. Am J Pharmacogenomics 2, 197–205 (2002). https://doi.org/10.2165/00129785-200202030-00005

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