David G. Wang,
Jian-Bing Fan,
Chia-Jen Siao,
Anthony Berno,
Peter Young,
Ron Sapolsky,
Ghassan Ghandour,
Nancy Perkins,
Ellen Winchester,
Jessica Spencer,
Leonid Kruglyak,
Lincoln Stein,
Linda Hsie,
Thodoros Topaloglou,
Earl Hubbell,
Elizabeth Robinson,
Michael Mittmann,
Macdonald S. Morris,
Naiping Shen,
Dan Kilburn,
John Rioux,
Chad Nusbaum,
Steve Rozen,
Thomas J. Hudson,
Robert Lipshutz,
*
Mark Chee,
Eric S. Lander
*
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.
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.
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.
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.
*
To whom correspondence should be addressed.
