Haplotype variation and linkage disequilibrium in 313 human genes

被引：662

作者：

Stephens, JC ^{[1
]}

Schneider, JA ^{[1
]}

Tanguay, DA ^{[1
]}

Choi, J ^{[1
]}

Acharya, T ^{[1
]}

Stanley, SE ^{[1
]}

Jiang, RH ^{[1
]}

Messer, CJ ^{[1
]}

Chew, A ^{[1
]}

Han, JH ^{[1
]}

Duan, JC ^{[1
]}

Carr, JL ^{[1
]}

Lee, MS ^{[1
]}

Koshy, B ^{[1
]}

Kumar, AM ^{[1
]}

Zhang, G ^{[1
]}

Newell, WR ^{[1
]}

Windemuth, A ^{[1
]}

Xu, CB ^{[1
]}

Kalbfleisch, TS ^{[1
]}

Shaner, SL ^{[1
]}

Arnold, K ^{[1
]}

Schulz, V ^{[1
]}

Drysdale, CM ^{[1
]}

Nandabalan, K ^{[1
]}

Judson, RS ^{[1
]}

Ruaño, G ^{[1
]}

Vovis, GF ^{[1
]}

机构：

[1] Genaissance Pharmaceut Inc, New Haven, CT 06511 USA

来源：

SCIENCE | 2001年 / 293卷 / 5529期

关键词：

D O I：

10.1126/science.1059431

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：

Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of Linkage disequilibrium that was a function of their Location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

引用

页码：489 / 493

页数：5

共 39 条

[1] ACHARYA T, UNPUB
[2] Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M
Altshuler, D
Ireland, J
Sklar, P
Ardlie, K
Patil, N
Lane, CR
Lim, EP
Kalyanaraman, N
Nemesh, J
Ziaugra, L
Friedland, L
Rolfe, A
Warrington, J
Lipshutz, R
Daley, GQ
Lander, ES
[J]. NATURE GENETICS, 1999, 22 (03) : 231 - 238
[3] GENE DIVERSITY AND ESTIMATION OF GENETIC ADMIXTURE AMONG MEXICAN-AMERICANS OF STARR COUNTY, TEXAS
CERDAFLORES, RM
KSHATRIYA, GK
BERTIN, TK
HEWETTEMMETT, D
HANIS, CL
CHAKRABORTY, R
[J]. ANNALS OF HUMAN BIOLOGY, 1992, 19 (04) : 347 - 360
[4] It's raining SNPs, hallelujah?
Chakravarti, A
[J]. NATURE GENETICS, 1998, 19 (03) : 216 - 217
[5] Chips for chimps
Clark, AG
[J]. NATURE GENETICS, 1999, 22 (02) : 119 - 120
[6] CLARK AG, 1990, MOL BIOL EVOL, V7, P111
[7] Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase
Clark, AG
Weiss, KM
Nickerson, DA
Taylor, SL
Buchanan, A
Stengård, J
Salomaa, V
Vartiainen, E
Perola, M
Boerwinkle, E
Sing, CF
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) : 595 - 612
[8] Complex promoter and coding region β2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness
Drysdale, CM
McGraw, DW
Stack, CB
Stephens, JC
Judson, RS
Nandabalan, K
Arnold, K
Ruano, G
Liggett, SB
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (19) : 10483 - 10488
[9] Apolipoprotein E variation at the sequence haplotype level:: Implications for the origin and maintenance of a major human polymorphism
Fullerton, SM
Clark, AG
Weiss, KM
Nickerson, DA
Taylor, SL
Stengård, JH
Salomaa, V
Vartiainen, E
Perola, M
Boerwinkle, E
Sing, CF
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 881 - 900
[10] AMINO-ACID DIFFERENCE FORMULA TO HELP EXPLAIN PROTEIN EVOLUTION
GRANTHAM, R
[J]. SCIENCE, 1974, 185 (4154) : 862 - 864

← 1 2 3 4 →