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Linkage disequilibrium in the human genome 总被引:89,自引:0,他引:89
Reich DE Cargill M Bolk S Ireland J Sabeti PC Richter DJ Lavery T Kouyoumjian R Farhadian SF Ward R Lander ES 《Nature》2001,411(6834):199-204
With the availability of a dense genome-wide map of single nucleotide polymorphisms (SNPs), a central issue in human genetics is whether it is now possible to use linkage disequilibrium (LD) to map genes that cause disease. LD refers to correlations among neighbouring alleles, reflecting 'haplotypes' descended from single, ancestral chromosomes. The size of LD blocks has been the subject of considerable debate. Computer simulations and empirical data have suggested that LD extends only a few kilobases (kb) around common SNPs, whereas other data have suggested that it can extend much further, in some cases greater than 100 kb. It has been difficult to obtain a systematic picture of LD because past studies have been based on only a few (1-3) loci and different populations. Here, we report a large-scale experiment using a uniform protocol to examine 19 randomly selected genomic regions. LD in a United States population of north-European descent typically extends 60 kb from common alleles, implying that LD mapping is likely to be practical in this population. By contrast, LD in a Nigerian population extends markedly less far. The results illuminate human history, suggesting that LD in northern Europeans is shaped by a marked demographic event about 27,000-53,000 years ago. 相似文献
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Levskaya A Chevalier AA Tabor JJ Simpson ZB Lavery LA Levy M Davidson EA Scouras A Ellington AD Marcotte EM Voigt CA 《Nature》2005,438(7067):441-442
We have designed a bacterial system that is switched between different states by red light. The system consists of a synthetic sensor kinase that allows a lawn of bacteria to function as a biological film, such that the projection of a pattern of light on to the bacteria produces a high-definition (about 100 megapixels per square inch), two-dimensional chemical image. This spatial control of bacterial gene expression could be used to 'print' complex biological materials, for example, and to investigate signalling pathways through precise spatial and temporal control of their phosphorylation steps. 相似文献
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Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency 总被引:12,自引:0,他引:12
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STAT3 signalling is required for leptin regulation of energy balance but not reproduction 总被引:33,自引:0,他引:33
Bates SH Stearns WH Dundon TA Schubert M Tso AW Wang Y Banks AS Lavery HJ Haq AK Maratos-Flier E Neel BG Schwartz MW Myers MG 《Nature》2003,421(6925):856-859
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