The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine

被引:32
作者
Miller, RD [1 ]
Kwok, PY [1 ]
机构
[1] Washington Univ, Sch Med, Div Dermatol, St Louis, MO 63110 USA
关键词
D O I
10.1093/hmg/10.20.2195
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Extensive, new databases of single-nucleotide polymorphisms (SNPs) provide a powerful resource for disease gene discovery, and they will be even more useful as more frequency data become available. Interesting observed genomic, patterns include SNP deserts (regions of low SNP incidence) and lengthy regions of linkage disequilibrium containing only a few haplotypes. A variety of genetic studies will benefit from SNP resources.
引用
收藏
页码:2195 / 2198
页数:4
相关论文
共 33 条
[11]   Prospects for whole-genome linkage disequilibrium mapping of common disease genes [J].
Kruglyak, L .
NATURE GENETICS, 1999, 22 (02) :139-144
[12]  
Kwok P Y, 2000, Pharmacogenomics, V1, P95, DOI 10.1517/14622416.1.1.95
[13]   Initial sequencing and analysis of the human genome [J].
Lander, ES ;
Int Human Genome Sequencing Consortium ;
Linton, LM ;
Birren, B ;
Nusbaum, C ;
Zody, MC ;
Baldwin, J ;
Devon, K ;
Dewar, K ;
Doyle, M ;
FitzHugh, W ;
Funke, R ;
Gage, D ;
Harris, K ;
Heaford, A ;
Howland, J ;
Kann, L ;
Lehoczky, J ;
LeVine, R ;
McEwan, P ;
McKernan, K ;
Meldrim, J ;
Mesirov, JP ;
Miranda, C ;
Morris, W ;
Naylor, J ;
Raymond, C ;
Rosetti, M ;
Santos, R ;
Sheridan, A ;
Sougnez, C ;
Stange-Thomann, N ;
Stojanovic, N ;
Subramanian, A ;
Wyman, D ;
Rogers, J ;
Sulston, J ;
Ainscough, R ;
Beck, S ;
Bentley, D ;
Burton, J ;
Clee, C ;
Carter, N ;
Coulson, A ;
Deadman, R ;
Deloukas, P ;
Dunham, A ;
Dunham, I ;
Durbin, R ;
French, L .
NATURE, 2001, 409 (6822) :860-921
[14]   Single-nucleotide polymorphisms in the public domain: how useful are they? [J].
Marth, G ;
Yeh, R ;
Minton, M ;
Donaldson, R ;
Li, Q ;
Duan, SG ;
Davenport, R ;
Miller, RD ;
Kwok, PY .
NATURE GENETICS, 2001, 27 (04) :371-372
[15]   A general approach to single-nucleotide polymorphism discovery [J].
Marth, GT ;
Korf, I ;
Yandell, MD ;
Yeh, RT ;
Gu, ZJ ;
Zakeri, H ;
Stitziel, NO ;
Hillier, L ;
Kwok, PY ;
Gish, WR .
NATURE GENETICS, 1999, 23 (04) :452-456
[16]   Worldwide genetic analysis of the CFTR region [J].
Mateu, E ;
Calafell, F ;
Lao, O ;
Bonné-Tamir, B ;
Kidd, JR ;
Pakstis, A ;
Kidd, KK ;
Bertranpetit, J .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :103-117
[17]   Regions of low single-nucleotide polymorphism incidence in human and orangutan Xq: Deserts and recent coalescences [J].
Miller, RD ;
Taillon-Miller, P ;
Kwok, PY .
GENOMICS, 2001, 71 (01) :78-88
[18]   Single nucleotide polymorphism and linkage disequilibrium within the TCR α/δ locus [J].
Moffatt, MF ;
Traherne, JA ;
Abecasis, GR ;
Cookson, WOCM .
HUMAN MOLECULAR GENETICS, 2000, 9 (07) :1011-1019
[19]   The optimal measure of allelic association [J].
Morton, NE ;
Zhang, W ;
Taillon-Miller, P ;
Ennis, S ;
Kwok, PY ;
Collins, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (09) :5217-5221
[20]   An SNP map of human chromosome 22 [J].
Mullikin, JC ;
Hunt, SE ;
Cole, CG ;
Mortimore, BJ ;
Rice, CM ;
Burton, J ;
Matthews, LH ;
Pavitt, R ;
Plumb, RW ;
Sims, SK ;
Ainscough, RMR ;
Attwood, J ;
Bailey, JM ;
Barlow, K ;
Bruskiewich, RMM ;
Butcher, PN ;
Carter, NP ;
Chen, Y ;
Clee, CM ;
Coggill, PC ;
Davies, J ;
Davies, RM ;
Dawson, E ;
Francis, MD ;
Joy, AA ;
Lamble, RG ;
Langford, CF ;
Macarthy, J ;
Mall, V ;
Moreland, A ;
Overton-Larty, EK ;
Ross, MT ;
Smith, LC ;
Steward, CA ;
Sulston, JE ;
Tinsley, EJ ;
Turney, KJ ;
Willey, DL ;
Wilson, GD ;
McMurray, AA ;
Dunham, I ;
Rogers, J ;
Bentley, DR .
NATURE, 2000, 407 (6803) :516-520