高分辨率重组图在遗传研究中有很多用途。现有的这种重组图（它们利用来自HapMap项目的高密度SNP（单核苷酸多态性）数据的联系失衡模式）已被证明非常有用。但它们有一些局限性，如不能提供关于不同性别之间和同一性别之内重组特征之差别的信息。在冰岛从事deCODE遗传研究的一个小组，利用来自超过15000个“父母-子女对”的全基因组SNP数据来首次构建基于直接观察到的重组事件的重组图，其分辨率达到10kb。
他们的数据显示，不同性别之间存在有趣的重组差别。例如，在男性中，重组倾向于对外显子进行“洗牌”，而在女性中它则产生附近基因的新组合。将这些重组图与基于联系失衡的重组图进行对比，显示了在欧洲、非洲和美国的人群之间以前没有被发现的差别。（生物谷Bioon.com）
生物谷推荐英文摘要：
Nature doi:10.1038/nature09525
Fine-scale recombination rate differences between sexes, populations and individuals
Augustine Kong,kong@decode.isGudmar Thorleifsson,Daniel F. Gudbjartsson,Gisli Masson,Asgeir Sigurdsson,Aslaug Jonasdottir,G. Bragi Walters,Adalbjorg Jonasdottir,Arnaldur Gylfason,Kari Th. Kristinsson,Sigurjon A. Gudjonsson,Michael L. Frigge,Agnar Helgason,Unnur Thorsteinsdottir& Kari Stefanssonkari.stefansson@decode.is
Meiotic recombinations contribute to genetic diversity by yielding new combinations of alleles. Recently, high-resolution recombination maps were inferred from high-density single-nucleotide polymorphism (SNP) data using linkage disequilibrium (LD) patterns that capture historical recombination events1, 2. The use of these maps has been demonstrated by the identification of recombination hotspots2 and associated motifs3, and the discovery that the PRDM9 gene affects the proportion of recombinations occurring at hotspots4, 5, 6. However, these maps provide no information about individual or sex differences. Moreover, locus-specific demographic factors like natural selection7 can bias LD-based estimates of recombination rate. Existing genetic maps based on family data avoid these shortcomings8, but their resolution is limited by relatively few meioses and a low density of markers.
Here we used genome-wide SNP data from 15,257 parent–offspring pairs to construct the first recombination maps based on directly observed recombinations with a resolution that is effective down to 10 kilobases (kb). Comparing male and female maps reveals that about 15% of hotspots in one sex are specific to that sex. Although male recombinations result in more shuffling of exons within genes, female recombinations generate more new combinations of nearby genes. We discover novel associations between recombination characteristics of individuals and variants in the PRDM9 gene and we identify new recombination hotspots. Comparisons of our maps with two LD-based maps inferred from data of HapMap populations of Utah residents with ancestry from northern and western Europe (CEU) and Yoruba in Ibadan, Nigeria (YRI) reveal population differences previously masked by noise and map differences at regions previously described as targets of natural selection.
