new hope for haplotype mapping单体型映射的新的希望.pdfVIP

Available online /content/5/2/51 Commentary New hope for haplotype mapping John I Bell John Radcliffe Hospital, Oxford, UK Corresponding author: John Bell (e-mail: Regius@medsci.ox.ac.uk) Received: 1 November 2002 Accepted: 20 November 2002 Published: 13 January 2003 Arthritis Res Ther 2003, 5:51-53 (DOI 10.1186/ar621) © 2003 BioMed Central Ltd (Print ISSN 1478-6354; Online ISSN 1478-6362) Abstract The systematic analysis of polymorphisms across large parts of the human genome has begun to provide the first information on haplotypes and the problem of linkage disequilibrium across large genomic regions. These data suggest that significant regions of the gnome show highly conserved haplotypes, potentially enhancing the ability to detect disease associations. Keywords: evolution, genetics, haplotypes, human leukocyte antigen Introduction nation with each other, so that adjacent polymorphisms Individual risk of developing most major diseases can be occur together at a frequency determined only by their largely attributed to the extensive single nucleotide varia- allele frequency, this task would be enormous. Fortunately, tion that occurs throughout the human genome. The iden- for much of the genome the distribution of alleles is not in tification of the functional variants that contribute to equilibrium, reducing the scale of the challenge of extract- disease risk and progression, however, has been difficult, ing all the necessary genetic information from some particularly for complex