作者: Alec J. Jeffreys , Liisa Kauppi , Rita Neumann
DOI: 10.1038/NG1001-217
关键词: Meiosis 、 Recombination hotspot 、 Chromosomal crossover 、 PRDM9 、 Recombination 、 Homologous recombination 、 Genetics 、 Biology 、 Linkage disequilibrium 、 Population
摘要: There is considerable interest in understanding patterns of linkage disequilibrium (LD) the human genome, to aid investigations evolution and facilitate association studies complex disease. The relative influences meiotic crossover distribution population history on LD remain unclear, however. In particular, it uncertain what extent crossovers are clustered into 'hot spots, that might influence patterns. As a first step investigating relationship between recombination, we have analyzed 216-kb segment class II region major histocompatibility (MHC) already characterized for familial crossovers. High-resolution analysis shows existence extended domains strong interrupted by patchwork areas breakdown. Sperm typing these correspond precisely hot spots. All six spots defined share remarkably similar symmetrical morphology but vary considerably intensity, not obviously associated with any primary DNA sequence determinants hot-spot activity. These occur clusters together account almost all this MHC. data show that, within MHC at least, far from randomly distributed molecular level recombination can profoundly affect