24
October 2002
Genomics: Back to the Stone Age
The ability to detect recent natural selection in the human population would have profound implications for the study of history and for medicine. A new framework for detecting the genetic imprint of positive selection has been developed, and used to demonstrate positive selection at two genes carrying variants implicated in resistance to malaria. The method measures linkage disequilibrium between each locus and loci at various distances on the chromosome. For both the G6PD and CD40 ligand gene loci, the haplotypes carrying the proposed protective mutation show a combination of high frequency and long-range linkage disequilibrium that confirms positive selection about 10,000 years ago, in the Neolithic era.
Detecting recent positive selection in the human genome
from haplotype structure
PARDIS C. SABETI, DAVID
E. REICH, JOHN M. HIGGINS, HANINAH Z. P. LEVINE, DANIEL J. RICHTER, STEPHEN F.
SCHAFFNER, STACEY B. GABRIEL, JILL V. PLATKO, NICK J. PATTERSON, GAVIN J. MCDONALD,
HANS C. ACKERMAN, SARAH J. CAMPBELL, DAVID ALTSHULER, RICHARD COOPER, DOMINIC
KWIATKOWSKI, RYK WARD & ERIC S. LANDER
Nature 419, 832–837
(2002); doi:10.1038/nature01140
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