Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
- 18 February 2003
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 33 (3) , 382-387
- https://doi.org/10.1038/ng1100
Abstract
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.Keywords
This publication has 27 references indexed in Scilit:
- The Structure of Haplotype Blocks in the Human GenomeScience, 2002
- A high-resolution recombination map of the human genomeNature Genetics, 2002
- New Mapping Project Splits the CommunityScience, 2002
- Patterns of linkage disequilibrium in the human genomeNature Reviews Genetics, 2002
- Merlin—rapid analysis of dense genetic maps using sparse gene flow treesNature Genetics, 2001
- Sequence Variation and Linkage Disequilibrium in the Human T-Cell Receptor β (TCRB) LocusAmerican Journal of Human Genetics, 2001
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsNature, 2001
- Ancestral Inference from Samples of DNA Sequences with RecombinationJournal of Computational Biology, 1996
- Principles of Population Genetics.Published by JSTOR ,1990
- Pedigree Analysis in Human Genetics.Published by JSTOR ,1986