Abstract

The sequencing of the human genome and the intense study of its variation in different human populations have improved our understanding of the genome's architecture. It is now becoming clear that segments of the genome that are unbroken by reshuffling or recombination during meiosis create a mosaic of DNA 'haplotype blocks'. Here, we discuss the advantages and limitations of this block structure. Haplotype blocks hold the promise of reducing the complexity of analysing the human genome for association with disease. But can they deliver on this promise? First generation maps of these block patterns, such as the admixture and haplotype maps, are now emerging and, it is to be hoped, will accelerate the discovery of alleles that contribute to susceptibility to human inflammatory diseases.

Author affiliations

1. David A. Hafler and Philip L. De Jager are at the Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA, and at the Broad Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA, and at Harvard University, Cambridge, Massachusetts, USA.

Correspondence to: David A. Hafler¹ Email: dhafler@rics.bwh.harvard.edu

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