Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

被引：1563

作者：

Wang, DG

Fan, JB

Siao, CJ

Berno, A

Young, P

Sapolsky, R

Ghandour, G

Perkins, N

Winchester, E

Spencer, J

Kruglyak, L

Stein, L

Hsie, L

Topaloglou, T

Hubbell, E

Robinson, E

Mittmann, M

Morris, MS

Shen, NP

Kilburn, D

Rioux, J

Nusbaum, C

Rozen, S

Hudson, TJ

Lipshutz, R

Chee, M

Lander, ES

机构：

[1] Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

[2] MIT, Dept Biol, Cambridge, MA 02139 USA

[3] Affymetrix Inc, Santa Clara, CA 95051 USA

来源：

SCIENCE | 1998年 / 280卷 / 5366期

关键词：

D O I：

10.1126/science.280.5366.1077

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1077 / 1082

页数：6

共 20 条

[1] THE MYTH OF EVE - MOLECULAR-BIOLOGY AND HUMAN ORIGINS [J].

AYALA, FJ .

SCIENCE, 1995, 270 (5244) :1930-1936

[2] Accessing genetic information with high-density DNA arrays [J].

Chee, M ;

Yang, R ;

Hubbell, E ;

Berno, A ;

Huang, XC ;

Stern, D ;

Winkler, J ;

Lockhart, DJ ;

Morris, MS ;

Fodor, SPA .

SCIENCE, 1996, 274 (5287) :610-614

[3] DETECTION OF SICKLE-CELL BETA-S-GLOBIN ALLELE BY HYBRIDIZATION WITH SYNTHETIC OLIGONUCLEOTIDES [J].

CONNER, BJ ;

REYES, AA ;

MORIN, C ;

ITAKURA, K ;

TEPLITZ, RL ;

WALLACE, RB .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (01) :278-282

[4]

COOPER DN, 1990, HUM GENET, V85, P55

[5]

Cronin MT, 1996, HUM MUTAT, V7, P244, DOI 10.1002/(SICI)1098-1004(1996)7:3<244::AID-HUMU9>3.3.CO

[6]

2-D

[7] SOLID-PHASE REVERSIBLE IMMOBILIZATION FOR THE ISOLATION OF PCR PRODUCTS [J].

DEANGELIS, MM ;

WANG, DG ;

HAWKINS, TL .

NUCLEIC ACIDS RESEARCH, 1995, 23 (22) :4742-4743

[8] LIGHT-DIRECTED, SPATIALLY ADDRESSABLE PARALLEL CHEMICAL SYNTHESIS [J].

FODOR, SPA ;

READ, JL ;

PIRRUNG, MC ;

STRYER, L ;

LU, AT ;

SOLAS, D .

SCIENCE, 1991, 251 (4995) :767-773

[9] Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis [J].

Hacia, JG ;

Brody, LC ;

Chee, MS ;

Fodor, SPA ;

Collins, FS .

NATURE GENETICS, 1996, 14 (04) :441-447

[10] AN STS-BASED MAP OF THE HUMAN GENOME [J].

HUDSON, TJ ;

STEIN, LD ;

GERETY, SS ;

MA, JL ;

CASTLE, AB ;

SILVA, J ;

SLONIM, DK ;

BAPTISTA, R ;

KRUGLYAK, L ;

XU, SH ;

HU, XT ;

COLBERT, AME ;

ROSENBERG, C ;

REEVEDALY, MP ;

ROZEN, S ;

HUI, L ;

WU, XY ;

VESTERGAARD, C ;

WILSON, KM ;

BAE, JS ;

MAITRA, S ;

GANIATSAS, S ;

EVANS, CA ;

DEANGELIS, MM ;

INGALLS, KA ;

NAHF, RW ;

HORTON, LT ;

ANDERSON, MO ;

COLLYMORE, AJ ;

YE, WJ ;

KOUYOUMJIAN, V ;

ZEMSTEVA, IS ;

TAM, J ;

DEVINE, R ;

COURTNEY, DF ;

RENAUD, MT ;

NGUYEN, H ;

OCONNOR, TJ ;

FIZAMES, C ;

FAURE, S ;

GYAPAY, G ;

DIB, C ;

MORISSETTE, J ;

ORLIN, JB ;

BIRREN, BW ;

GOODMAN, N ;

WEISSENBACH, J ;

HAWKINS, TL ;

FOOTE, S ;

PAGE, DC .

SCIENCE, 1995, 270 (5244) :1945-1954

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