Nature Genetics
- 33, 382 - 387 (2003)
Published online: 18 February 2003; | doi:10.1038/ng1100
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spotsM.S. Phillips1, R. Lawrence2, R. Sachidanandam3, A.P. Morris2, D.J. Balding4, M.A. Donaldson1, J.F. Studebaker1, W.M. Ankener1, S.V. Alfisi1, F.-S. Kuo1, A.L. Camisa1, V. Pazorov1, K.E. Scott1, B.J. Carey1, J. Faith3, G. Katari3, H.A. Bhatti1, J.M. Cyr1, V. Derohannessian1, C. Elosua1, A.M. Forman1, N.M. Grecco1, C.R. Hock1, J.M. Kuebler1, J.A. Lathrop1, M.A. Mockler1, E.P. Nachtman1, S.L. Restine1, S.A. Varde1, M.J. Hozza1, C.A. Gelfand1, J. Broxholme2, G.R. Abecasis5, M.T. Boyce-Jacino1 & L.R. Cardon21
Orchid Biosciences Inc., 303A College Road East, Princeton, New Jersey 08540, USA. 2
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. 3
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA. 4
Department of Epidemiology and Public Health, Imperial College Faculty of Medicine, Norfolk Place, London W2 1PG, UK. 5
University of Michigan, Ann Arbor, Michigan 48109, USA.
Correspondence should be addressed to L.R. Cardon lon.cardon@well.ox.ac.uk Recent studies of human populations suggest that the genome consists of chromosome segments that are ancestrally conserved ('haplotype blocks'; refs. 1–3) and have discrete boundaries defined by recombination hot spots4,
5. Using publicly available genetic markers6, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density7, approximately one-third of the chromosome is encompassed within haplotype blocks. Evolutionary modeling of the data indicates that recombination hot spots are not required to explain most of the observed blocks, providing that marker ascertainment and the observed marker spacing are considered. In contrast, several long blocks are inconsistent with our evolutionary models, and different mechanisms could explain their origins.
|
