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McCarroll SA Hadnott TN Perry GH Sabeti PC Zody MC Barrett JC Dallaire S Gabriel SB Lee C Daly MJ Altshuler DM;International HapMap Consortium 《Nature genetics》2006,38(1):86-92
The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome. We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 kb in size; 278 of these variants were observed in multiple, unrelated individuals, 120 in the homozygous state. The coding exons of ten expressed genes were found to be commonly deleted, including multiple genes with roles in sex steroid metabolism, olfaction and drug response. These common deletion polymorphisms typically represent ancestral mutations that are in linkage disequilibrium with nearby SNPs, meaning that their association to disease can often be evaluated in the course of SNP-based whole-genome association studies. 相似文献
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Summary 7 monoterpenes, -pinene, -pinene, myrcene, p-cymene, limonene, neral and geranial, were identified together with n-undecane in the scent scales ofP. melete, and also, together with considerable amounts of linalool, in the scent scales ofP. napi. Content ratio of neral to geranial inP. melete ranged from 0.77 to 1.04, and that inP. napi from 1.84 to 2.43. The present chemotaxonomic approach shows the 2 species ofPieris to be distinct.The authors thank Dr T. Yushima (National Institute of Agricultural Science, Japan) for supplying the references 3 and 4. 相似文献
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H Truong O Soulignac E E Baulieu 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1975,280(19):2245-2248
The measurement of the binding of steroid hormone receptors to biospecific adsorbants requires the development of "exchange" techniques. Two types of techniques based on the principle of differential dissociation were standardized: solid phase exchange with hydroxylapatite and liquid phase exchange with adsorption of the ligand to charcoal dextran. In both cases, binding of oestradiol to its receptor was measured in calf uterine cytosol extracts. Results obtained by both techniques were comparable. The half-times of the oestradiol-receptor complex dissociation determined from exchange kinetics are on the same order as those obtained by direct methods used in previous studies. 相似文献
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