An SNP map of human chromosome 22

• Published in: Nature (London) Vol. 407; no. 6803; pp. 516 - 520
• Main Authors: Bentley, D. R, Mullikin, J. C, Hunt, S. E, Cole, C. G, Mortimore, B. J, Rice, C. M, Burton, J, Matthews, L. H, Pavitt, R, Plumb, R. W, Sims, S. K, Ainscough, R. M. R, Attwood, J, Bailey, J. M, Barlow, K, Bruskiewich, R. M. M, Butcher, P. N, Carter, N. P, Chen, Y, Clee, C. M, Coggill, P. C, Davies, J, Davies, R. M, Dawson, E, Francis, M. D, Joy, A. A, Lamble, R. G, Langford, C. F, Macarthy, J, Mall, V, Moreland, A, Overton-Larty, E. K, Ross, M. T, Smith, L. C, Steward, C. A, Sulston, J. E, Tinsley, E. J, Turney, K. J, Willey, D. L, Wilson, G. D, McMurray, A. A, Dunham, I, Rogers, J
• Format: Journal Article
• Language: English
• Published: London Nature Publishing 28-09-2000; Nature Publishing Group
• Subjects: Biological and medical sciences; Cell Line; chromosome 22; Chromosome Mapping - methods; Chromosomes, Human, Pair 22; Classical genetics, quantitative genetics, hybrids; Deoxyribonucleic acid; DNA; Evaluation Studies as Topic; Fundamental and applied biological sciences. Psychology; Gene Library; Genes; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genomics; Human; Human populations; Humans; Polymorphism, Single Nucleotide; Sequence Alignment; Sequence Analysis, DNA - methods; single nucleotide polymorphisms; Genetic mapping; Human; Genetic variability; Gene; Genetic marker; Nucleotide sequence; DNA; Chromosome G22; Homology; Population; Polymorphism
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/35035089

The human genome sequence will provide a reference for measuring DNA sequence
variation in human populations. Sequence variants are responsible for the
genetic component of individuality, including complex characteristics such
as disease susceptibility and drug response. Most sequence variants are single
nucleotide polymorphisms (SNPs), where two alternate bases occur at one position. Comparison of any two genomes reveals around 1 SNP
per kilobase. A sufficiently dense map of SNPs would allow
the detection of sequence variants responsible for particular characteristics
on the basis that they are associated with a specific SNP allele.
Here we have evaluated large-scale sequencing approaches to obtaining SNPs,
and have constructed a map of 2,730 SNPs on human chromosome 22. Most of the
SNPs are within 25 kilobases of a transcribed exon, and are valuable
for association studies. We have scaled up the process, detecting over 65,000
SNPs in the genome as part of The SNP Consortium programme, which is on target
to build a map of 1 SNP every 5 kilobases that is integrated
with the human genome sequence and that is freely available in the public
domain.