Nucleic Acids Research, 2002, Vol. 30, No. 15 3295-3311
© 2002 Oxford University Press
Survey and Summary |
Single nucleotide polymorphism seeking long term association with complex disease
Department of Microbiology, Box 62, Hearst Microbiology Research Center, Strang Cancer Prevention Center, Joan and Sanford I. Weill Medical College of Cornell University, Room B-406, 1300 York Avenue, New York, NY 10021, USA and 1 Department of Biological Sciences, Kean University, Union, NJ 07083, USA
*To whom correspondence should be addressed. Tel: +1 212 746 6509; Fax: +1 212 746 8588; Email: barany{at}med.cornell.edu
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.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  H.-A. WAGENKNECHT Fluorescent DNA Base Modifications and Substitutes: Multiple Fluorophore Labeling and the DETEQ Concept Ann. N.Y. Acad. Sci., May 1, 2008; 1130(1): 122 - 130. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C.-F. Chiu, C.-H. Wang, C.-L. Wang, C.-C. Lin, N.-Y. Hsu, J.-R. Weng, and D.-T. Bau A Novel Single Nucleotide Polymorphism in XRCC4 Gene is Associated with Gastric Cancer Susceptibility in Taiwan Ann. Surg. Oncol., February 1, 2008; 15(2): 514 - 518. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y.-L. Lo, J.-C. Yu, S.-T. Chen, G.-C. Hsu, Y.-C. Mau, S.-L. Yang, P.-E. Wu, and C.-Y. Shen Breast cancer risk associated with genotypic polymorphism of the mitotic checkpoint genes: a multigenic study on cancer susceptibility Carcinogenesis, May 1, 2007; 28(5): 1079 - 1086. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H.-C. Yeh, Y.-P. Ho, I.-M. Shih, and T.-H. Wang Homogeneous point mutation detection by quantum dot-mediated two-color fluorescence coincidence analysis Nucleic Acids Res., March 3, 2006; 34(5): e35 - e35. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L.-S. Chou, F. Gedge, and E. Lyon Complete Gene Scanning by Temperature Gradient Capillary Electrophoresis Using the Cystic Fibrosis Transmembrane Conductance Regulator Gene as a Model J. Mol. Diagn., February 1, 2005; 7(1): 111 - 120. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. P. Bao, M. Huber, T.-F. Wei, S. S. Marla, J. J. Storhoff, and U. R. Müller SNP identification in unamplified human genomic DNA with gold nanoparticle probes Nucleic Acids Res., January 19, 2005; 33(2): e15 - e15. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Halperin, A. Buhot, and E. B. Zhulina Hybridization Isotherms of DNA Microarrays and the Quantification of Mutation Studies Clin. Chem., December 1, 2004; 50(12): 2254 - 2262. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Takatsu, T. Yokomaku, S. Kurata, and T. Kanagawa A FRET-based analysis of SNPs without fluorescent probes Nucleic Acids Res., November 8, 2004; 32(19): e156 - e156. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. S. Marin, M. F. Lopez-Cima, L. Garcia-Castro, T. Pascual, M. G. Marron, and A. Tardon Poly (AT) Polymorphism in Intron 11 of the XPC DNA Repair Gene Enhances the Risk of Lung Cancer Cancer Epidemiol. Biomarkers Prev., November 1, 2004; 13(11): 1788 - 1793. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Pincas, M. R. Pingle, J. Huang, K. Lao, P. B. Paty, A. M. Friedman, and F. Barany High sensitivity EndoV mutation scanning through real-time ligase proofreading Nucleic Acids Res., October 28, 2004; 32(19): e148 - e148. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D.-T. Bau, Y.-P. Fu, S.-T. Chen, T.-C. Cheng, J.-C. Yu, P.-E. Wu, and C.-Y. Shen Breast Cancer Risk and the DNA Double-Strand Break End-Joining Capacity of Nonhomologous End-Joining Genes Are Affected by BRCA1 Cancer Res., July 15, 2004; 64(14): 5013 - 5019. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Narayanan, J. Gall, and C. Richert Clamping down on weak terminal base pairs: oligonucleotides with molecular caps as fidelity-enhancing elements at the 5'- and 3'-terminal residues Nucleic Acids Res., May 20, 2004; 32(9): 2901 - 2911. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. Ren, J.-M. Zhou, and M. Komiyama Straightforward detection of SNPs in double-stranded DNA by using exonuclease III/nuclease S1/PNA system Nucleic Acids Res., February 24, 2004; 32(4): e42 - e42. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Koushik, R. W. Platt, and E. L. Franco p53 Codon 72 Polymorphism and Cervical Neoplasia: A Meta-Analysis Review Cancer Epidemiol. Biomarkers Prev., January 1, 2004; 13(1): 11 - 22. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. C. Rice, B. M. Heckman, Y. Liu, and E. B. Kmiec Fluorescent Detection and Isolation of DNA Variants Using Stabilized RecA-Coated Oligonucleotides Genome Res., January 1, 2004; 14(1): 116 - 125. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 X.-b. Zhong, R. Reynolds, J. R. Kidd, K. K. Kidd, R. Jenison, R. A. Marlar, and D. C. Ward Single-nucleotide polymorphism genotyping on optical thin-film biosensor chips PNAS, September 30, 2003; 100(20): 11559 - 11564. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y.-P. Fu, J.-C. Yu, T.-C. Cheng, M. A. Lou, G.-C. Hsu, C.-Y. Wu, S.-T. Chen, H.-S. Wu, P.-E. Wu, and C.-Y. Shen Breast Cancer Risk Associated with Genotypic Polymorphism of the Nonhomologous End-Joining Genes: A Multigenic Study on Cancer Susceptibility Cancer Res., May 15, 2003; 63(10): 2440 - 2446. [Abstract] [Full Text] [PDF]
|
|