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141.
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration 总被引:12,自引:0,他引:12
Maller J George S Purcell S Fagerness J Altshuler D Daly MJ Seddon JM 《Nature genetics》2006,38(9):1055-1059
Age-related macular degeneration (AMD) is a common, late-onset disease with seemingly typical complexity: recurrence ratios for siblings of an affected individual are three- to sixfold higher than in the general population, and family-based analysis has resulted in only modestly significant evidence for linkage. In a case-control study drawn from a US-based population of European descent, we have identified a previously unrecognized common, noncoding variant in CFH, the gene encoding complement factor H, that substantially increases the influence of this locus on AMD, and we have strongly replicated the associations of four other previously reported common alleles in three genes (P values ranging from 10(-6) to 10(-70)). Despite excellent power to detect epistasis, we observed purely additive accumulation of risk from alleles at these genes. We found no differences in association of these loci with major phenotypic categories of advanced AMD. Genotypes at these five common SNPs define a broad spectrum of interindividual disease risk and explain about half of the classical sibling risk of AMD in our study population. 相似文献
142.
本文证明了n维立方体各维棱(面)数之总和等于3^n。并研究了它与杨辉三角的关系。 相似文献
143.
J A Martignetti A A Aqeel W A Sewairi C E Boumah M Kambouris S A Mayouf K V Sheth W A Eid O Dowling J Harris M J Glucksman S Bahabri B F Meyer R J Desnick 《Nature genetics》2001,28(3):261-265
The inherited osteolyses or 'vanishing bone' syndromes are a group of rare disorders of unknown etiology characterized by destruction and resorption of affected bones. The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950). We recently described an autosomal recessive form of multicentric osteolysis with carpal and tarsal resorption, crippling arthritic changes, marked osteoporosis, palmar and plantar subcutaneous nodules and distinctive facies in a number of consanguineous Saudi Arabian families. We localized the disease gene to 16q12-21 by using members of these families for a genome-wide search for homozygous-by-descent microsatellite markers. Haplotype analysis narrowed the critical region to a 1.2-cM region that spans the gene encoding MMP-2 (gelatinase A, collagenase type IV; (ref. 3). We detected no MMP2 enzymatic activity in the serum or fibroblasts of affected family members. We identified two family-specific homoallelic MMP2 mutations: R101H and Y244X. The nonsense mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains. Based on molecular modeling, the missense mutation disrupts hydrogen bond formation within the highly conserved prodomain adjacent to the catalytic zinc ion. 相似文献
144.
戴烽 《江西科技师范学院学报》2005,(1):44-47
本文针对目前我国城市房屋拆迁问题,通过对城市房屋拆迁过程涉及的权利内容进行了总结,并在此基础上,着重分析了城市房屋拆迁过程中权利保护的有关问题,提出了在城市房屋拆迁过程中,房屋产权要高于拆迁权的思想基础,期望通过本文分析达到抛砖引玉的作用,为今后加强对城市房屋拆迁管理,进一步完善我国城市房屋拆迁制度提供一个更为深入的研究路线。 相似文献
145.
研究以水泥处理固体有机物时,有机物对水泥水化的影响。以膜流模式说明水份在水泥浆体内传输的现象。水膜存在半干之水泥浆体,其厚度小于100nm,膜流由离分压所驱动,而离分压来自分子间作用力。膜拟结果发现,水泥浆体内局部位置可用以进行水化之水量为Q=-Aslv/6vπ。当有机物添加在水泥浆体内时,会影响Hamaker常数,Aslv因此可能使膜流不稳定或完全抑制膜流,因而使水泥浆体内局部缺水,影响水化进行,造成成品强度降低,影响品质。 相似文献
146.
儒家传统文化之价值浅论 总被引:1,自引:0,他引:1
戴叶 《无锡职业技术学院学报》2003,2(1):59-62
儒家文化是中国传统文化的重要组成部分 ,它传承至今 ,既有适应现代社会生活的精华 ,也有已经过时或腐化的糟粕。因此 ,我们应本着“取其精华 ,去其糟粕”的科学态度 ,对其进行分辨、取舍、继承和创新 ,使其发挥作用 ,与时俱进。本文拟从思维方式之价值、人生观之价值、人际关系论之价值三方面来具体分析儒家传统文化的价值 相似文献
147.
论述了如何用C语言模拟可变分区存储管理方式的过程。形象地展示了操作系统中可变分区存储管理中采用的最佳适应算法的分配与回收过程,达到了理论与实践相联系的目的。 相似文献
148.
149.
H. -P. Lipp H. Schwegler W. E. Crusio D. P. Wolfer M. -C. Leisinger-Trigona B. Heimrich P. Driscoll 《Cellular and molecular life sciences : CMLS》1989,45(9):845-859
Summary Genetically-defined rodent strains permit the identification of hippocampal traits which are of functional relevance for the performance of two-way avoidance behavior. This is exemplified here by analyzing the relationship between infrapyramidal mossy fibers (a tiny projection terminating upon the basal dendrites of hippocampal pyramidal neurons) and two-way avoidance learning in about 800 animals. The necessary steps include 1) identification of structural traits sensitive to selective breeding for extremes in two-way avoidance, 2) testing the robustness of the associations found by studying individual and genetical correlations between hippocampal traits and behavior, 3) establishing causal relationships by Mendelian crossing of strains with extreme structural traits and studying the behavioral consequences of such structural randomization, 4) confirming causal relationships by manipulating the structural variable in inbred (isogenic) strains, thereby eliminating the possibility of genetic linkage, and 5) ruling out the possibility of spurious associations by studying the correlations between the hippocampal trait and other behaviors known to depend on hippocampal functioning.In comparison with the classical lesion approach for identifying relationships between brain and behavior, the present procedure appears to be superior in two aspects: it is non-invasive, and it focuses automatically on those brain traits which are used by natural selection to shape behaviorally-defined animal populations, i.e., it reveals the natural regulators of behavior. 相似文献
150.
T. Hatano Y. Kato M. Katayama S. Marumo 《Cellular and molecular life sciences : CMLS》1989,45(4):400-402
Summary A new potent antiauxin, -(5,7-dichloroindole-3-)isobutyric acid has been synthesized and shown to inhibit auxin-mediated elongation ofAvena coleoptiles and to stimulate root growth of rice seedlings. Its activity is stronger than -(p-chlorophenoxy)isobutyric acid and is comparable to that of 2,3,5-triiodobenzoic acid, which are typical antiauxins. 相似文献