Single nucleotide polymorphism seeking long term association with complex disease.
Successful investigation of common diseases requires advances in our understanding of the organization of the genome. Linkage disequilibrium provides a theoretical basis for performing candidate gene or whole-genome association studies to analyze complex disease. However, to constructively interrogate SNPs for these studies, technologies with sufficient throughput and sensitivity are required. A plethora of suitable and reliable methods have been developed, each of which has its own unique advantage. The characteristics of the most promising genotyping and polymorphism scanning technologies are presented. These technologies are examined both in the context of complex disease investigation and in their capacity to face the unique physical and molecular challenges (allele amplification, loss of heterozygosity and stromal contamination) of solid tumor research.
Department of Microbiology, Box 62, Hearst Microbiology Research Center, Joan and Sanford I. Weill Medical College of Cornell University, Room B-406, 1300 York Avenue, New York, NY 10021, USA.
Brian W
BW
Kirk
Matthew
M
Feinsod
Reyna
R
Favis
Richard M
RM
Kliman
Francis
F
Barany
D001709:Biotechnology / Q000379:methods; D004586:Electrophoresis / Q000379:methods; D020022:Genetic Predisposition to Disease; D023281:Genomics / Q000379:methods*; D006801:Humans; D015810:Linkage Disequilibrium; D009369:Neoplasms / Q000235:genetics*; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic