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Haplotyping in biomedicine—practical challenges

Nature Biotechnology volume 23, pages 21–22 (2005)Cite this article

Putting haplotypes on the map

The historical patterns of mutation, recombination and population dynamics are recorded in the haplotype distribution within each population5,6. Recent studies have found that the resulting patterns of linkage disequilibrium demonstrate a block-like structure, with an average size of around 25 kb in populations of European origin. In the majority of these blocks most of the genetic variation can be accounted for by two to four common haplotypes7,8. Deleterious genetic alleles arise and are embedded within these haplotypes. Given these extended regions of limited haplotype diversity, it is expected that the entire genome can be surveyed for association of common susceptibility alleles to disease with fewer than 500,000 SNPs in collections of unrelated cases and controls. For a variety of well-described reasons9, a shift is taking place in companies and in the gene-hunting community away from family-based linkage studies toward such linkage disequilibrium–based association studies to identify the genes that influence complex traits.

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Acknowledgements

This article was written while C.R.C. was a guest of the Institut des Hautes Études Scientifiques in Bures-sur-Yvette, France. The authors are grateful for input and comments from Toni Schuh.

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  1. Sequenom, Inc., 3595 John Hopkins Court, 92121, California, San Diego, USA

    Charles R Cantor & Matthew R Nelson

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  1. Charles R Cantor
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Correspondence to Charles R Cantor.

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Cantor, C., Nelson, M. Haplotyping in biomedicine—practical challenges. Nat Biotechnol 23, 21–22 (2005). https://doi.org/10.1038/nbt0105-21

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