Abstract
The most prevalent mechanisms leading to mutations in DNA are direct mis-incorporation of bases during replication and sustained chemical damage. Under normal circumstances, the cell corrects these problems using DNA polymerase proofreading mechanisms as well as the complex repair machinery of the cell. In certain tissues that contain mismatch repair deficiencies, DNA mispairs may accumulate.1, 2, 3, 4 and 5 Even in healthy cells, however, mismatches and lesions can sometimes go unchecked, resulting in permanent alterations in the gene sequence for subsequent generations. Identification of genetic variations (single-nucleotide polymorphisms, SNPs) among individuals and populations has implications in understanding human disease and treatment, as well as the interaction of the environment and multiple genes during evolution.6 Once these SNPs are identified and understood, rapid and reliable detection of them will be critical for the study, diagnosis, and treatment of genetically linked disease.
Published Version
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