Accessing genetic variation: genotyping single nucleotide polymorphisms

Abstract

Understanding the relationship between genetic variation and biological function on a genomic scale is expected to provide fundamental new insights into the biology, evolution and pathophysiology of humans and other species. The hope that single nucleotide polymorphisms (SNPs) will allow genes that underlie complex disease to be identified, together with progress in identifying large sets of SNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs. New genotyping methods that are high throughput, accurate and cheap are urgently needed for gaining full access to the abundant genetic variation of organisms.

Breast cancer risk associated with genotype polymorphism of the catechol estrogen‐metabolizing genes: A multigenic study on cancer susceptibility

“…25 The single nucleotide polymorphisms (SNP) of COMT and MnSOD were genotyped by a MassARRAY system (SEQUE-NOM, Inc., San Diego, CA), based on the primer extension protocol. 26 The PCR primers and extension primers for these 2 SNP were designed using Spectro-Designer software (SEQUENOM, Inc.). A PCR-based RFLP assay 27 was used to determine the SNP of SULT1A1.…”

Implications of pharmacogenomics in oral health

“…Completion of the human genome, microbial genomes and functional genomic studies will reveal the hereditability of susceptiwww.nature.com/tpj bility to a variety of infectious diseases, critical cellular pathways associated with the initiation and progression of disease, and may also provide candidate targets for combined drug therapies. [3][4][5][6][7] Candida albicans is the most common fungal pathogen isolated from the oral cavity. Deficiencies in the immune and endocrine systems in children as well as adults, as well as cancer chemotherapy invoke oral candidiasis.…”

“…Accessing genetic variation using single nucleotide polymorphisms (SNPs) will become very useful to dissect variations in drug metabolism. 5,7 Many systemic chronic diseases and disorders such as diabetes, arthritis, osteoporosis, chronic fatigue syndrome, fibromyalgia, Sjogren's syndrome, and AIDS, as well as therapies for systemic diseases, can directly or indirectly compromise oral tissues. [9][10][11][12][13] Using SNP-genotyping or other high Figure 2 Opportunities for pharmacogenomics: oral fluid diagnostics.…”

“…[16][17][18] The Pharmacogenomics Journal throughput technologies, the multiple genes in complex human diseases will be identified and the time of expression and mechanisms of action will be ascertained. 6,7 These advances should lead to interventions for health promotion, risk assessment and disease prevention as well as therapeutics for treatment.…”

“…7,11 These multiple genetic variables are enhancing our collective knowledge of susceptibility and/or resistance to disease. A number of candidate genes have been identified as putative risk factors for dental caries and periodontal diseases.…”