Methods and apparatus for screening and detecting multiple genetic mutations

作者: Ray R. Radtkey , David Canter , Lance C. Held , Karen Menge , Robert B. Wallace

DOI:

关键词: GeneticsSingle mutationDNAgenomic DNABiologyIdentification (biology)

摘要: An assay system and methods are described where patient samples containing genomic DNA analyzed for the presence of known genetic polymorphisms using a universal reporter strategy. In preferred embodiment, amplified is localized at test sites in an array on microchip followed by series hybridization reactions that screen single mutation from among number mutations, allow identification specific mutations. addition to reporters, may use blockers discriminators screening polymorphisms.

参考文章(163)
Bernard Gerrard, Francis S. Collins, Theresa Strong, Michael Dean, Marga B. White, Robert C. Stern, Noriko Hidaka, Catherine Tom Hon, Lisa Becker, Michael C. Iannuzzi, Mitchell L. Drumm, Two frameshift mutations in the cystic fibrosis gene. American Journal of Human Genetics. ,vol. 48, pp. 227- 231 ,(1991)
Y. V. Grinbush, D. K. Astolfi, D. J. Ehrlich, S. G. Cann, M. D. Eggers, Biochip Technology Development ,(1990)
Shailen S. Patel, Sample-scanning photometer ,(1983)
Bradley S. Scott, Paul D. Swanson, Thomas R. Jackson, Michael J. Heller, Edward L. Sheldon, Apparatus and methods for active biological sample preparation ,(1997)
Francis John Salgo, Mobile ion film memory ,(1975)
W. Mathias Howell, Magnus Jobs, Ulf Gyllensten, Anthony J. Brookes, Dynamic allele-specific hybridization Nature Biotechnology. ,vol. 17, pp. 87- 88 ,(1999) , 10.1038/5270
Gennadiy Yershov, Alexander Fotin, Andrei Mirzabekov, Valentine Chik, Dmitry Y. Guschin, Yuri Lysov, Aleksei Drobyshev, Customized oligonucleotide microchips that convert multiple genetic information to simple patterns, are portable and reusable ,(1999)
Gerald A. Beltz, Kenneth A. Jacobs, Thomas H. Eickbush, Peter T. Cherbas, Fotis C. Kafatos, [19] Isolation of multigene families and determination of homologies by filter hybridization methods Methods in Enzymology. ,vol. 100, pp. 266- 285 ,(1983) , 10.1016/0076-6879(83)00061-0