Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome-Reference-Cited by-同舟云学术

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

Published:1998-05-15 Issue:5366 Volume:280 Page:1077-1082
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Wang David G.¹²³,Fan Jian-Bing¹²³,Siao Chia-Jen¹²³,Berno Anthony¹²³,Young Peter¹²³,Sapolsky Ron¹²³,Ghandour Ghassan¹²³,Perkins Nancy¹²³,Winchester Ellen¹²³,Spencer Jessica¹²³,Kruglyak Leonid¹²³,Stein Lincoln¹²³,Hsie Linda¹²³,Topaloglou Thodoros¹²³,Hubbell Earl¹²³,Robinson Elizabeth¹²³,Mittmann Michael¹²³,Morris Macdonald S.¹²³,Shen Naiping¹²³,Kilburn Dan¹²³,Rioux John¹²³,Nusbaum Chad¹²³,Rozen Steve¹²³,Hudson Thomas J.¹²³,Lipshutz Robert¹²³,Chee Mark¹²³,Lander Eric S.¹²³

Affiliation:

1. D. G. Wang, C.-J. Siao, P. Young, N. Perkins, E. Winchester, J. Spencer, L. Kruglyak, L. Stein, E. Robinson, D. Kilburn, J. Rioux, C. Nusbaum, S. Rozen, T. J. Hudson, Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA.

2. J.-B. Fan, A. Berno, R. Sapolsky, G. Ghandour, L. Hsie, T. Topaloglou, E. Hubbell, M. Mittmann, M. S. Morris, N. Shen, R. Lipshutz, M. Chee, Affymetrix, Incorporated, 3380 Central Expressway, Santa Clara, CA 95051, USA.

3. E. S. Lander, Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.

Abstract

Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference35 articles.

1. N. Risch, K. Merikangas, Science 273, 1516 (1996); Lander E. S., ibid 274, 536 (1996); F. S. Collins, M. S. Guyer, A. Chakravarti, ibid. 278, 1580 (1997).

2. The use of a genetic map of biallelic markers in linkage studies

3. SNPs have only two alleles and are less informative than typical multi-allelic simple sequence length polymorphisms (SSLPs). This disadvantage can be offset by using a greater density of SNPs: a genome scan with 1000 well-spaced SNPs for example will extract about the same linkage information as the current standard of 400 well-spaced SSLPs (2).

4. B. J. Conner, et al., Proc. Natl. Acad. Sci. U.S.A. 80, 278 (1983); U. Landegren, R. Kaiser, J. Sanders, L. Hood, Science 241, 1077 (1988); D. Y. Wu, et al., Proc. Natl. Acad. Sci. U.S.A. 86, 2757 (1989); R. K. Saiki et al.,ibid., p. 6230; A.-C. Syvanen et al.,Genomics 8, 684 (1990); D. A. Nickerson, et al., Proc. Natl. Acad. Sci. U.S.A. 87, 8923 (1990); K. J. Livak, et al., Nature Genet. 9, 341 (1995); Roskey M. T., et al., Proc. Natl. Acad. Sci. U.S.A. 93, 4724 (1996).

5. Cronin M. T., et al., Hum. Mutat.7, 244 (1996).

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