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single nucleotide polymorphisms and disease gene mapping单核苷酸多态性与疾病基因映射
Available online /content/4/S3/S273
Supplement Review
Single nucleotide polymorphisms and disease gene mapping
John I Bell
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, UK
Correspondence: John I Bell, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK. Tel: +44 (0)1865 221340;
fax: +44 (0)1865 220993; e-mail: john.bell@ndm.ox.ac.uk
Received: 27 February 2002 Arthritis Res 2002, 4 (suppl 3):S273-S278
Accepted: 3 March 2002 © 2002 BioMed Central Ltd
Published: 9 May 2002 (Print ISSN 1465-9905; Online ISSN 1465-9913)
Chapter summary
Single nucleotide polymorphisms are the most important and basic form of variation in the genome,
and they are responsible for genetic effects that produce susceptibility to most autoimmune diseases.
The rapid development of databases containing very large numbers of single nucleotide
polymorphisms, and the characterization of haplotypes and patterns of linkage disequilibrium
throughout the genome, provide a unique opportunity to advance association strategies in common
disease rapidly over the next few years. Only the careful use of these strategies and a clear
understanding of their statistical limits will allow novel genetic determinants for many of the common
autoimmune diseases to be determined.
Keywords: disease association, genetics, HLA, linkage disequilibrium, SNP
Introduction the first
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