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71.
The fourth component of complement (C4) in man, is coded for by two separate but closely linked loci (C4A and C4B) within the major histocompatibility region (MHC), on the short arm of chromosome 6. Like class I and II loci of this region, the C4 genes are highly polymorphic with more than 30 alleles, including null alleles, assigned to the two loci. This extensive polymorphism, based mainly on electrophoretic mobility, provides a useful marker for studies of disease susceptibility. Several disorders, including systemic lupus erythematosus and type I diabetes, show associations with C4 phenotypes. We have used the technique of Southern with a C4 specific probe to examine the genomic DNA of individuals typed for C4 by protein electrophoresis. We have identified 10.7 and 3.8 kilobase (kb) BglII restriction fragments in each of 9 unrelated individuals with a C4A6 allele, and in none of 22 unrelated individuals in whom this allele was not expressed. This clear correlation of restriction fragment length polymorphism with C4 phenotype provides a precise basis for analysis of C4 polymorphism. It is likely to be of value in clinical investigations of autoimmune disease. 相似文献
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Anderson CA Boucher G Lees CW Franke A D'Amato M Taylor KD Lee JC Goyette P Imielinski M Latiano A Lagacé C Scott R Amininejad L Bumpstead S Baidoo L Baldassano RN Barclay M Bayless TM Brand S Büning C Colombel JF Denson LA De Vos M Dubinsky M Edwards C Ellinghaus D Fehrmann RS Floyd JA Florin T Franchimont D Franke L Georges M Glas J Glazer NL Guthery SL Haritunians T Hayward NK Hugot JP Jobin G Laukens D Lawrance I Lémann M Levine A Libioulle C Louis E McGovern DP Milla M Montgomery GW 《Nature genetics》2011,43(3):246-252
Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P < 5 × 10(-8)), increasing the number of ulcerative colitis-associated loci to 47. After annotating associated regions using GRAIL, expression quantitative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association signals between Crohn's disease and ulcerative colitis. 相似文献
74.
An article by Zhang et al. questions the interpretation of our oxygen isotope record from Wanxiang Cave and the sediment titanium record from Lake Huguang Maar, and the possible linkage between climate change and Chinese culture. In response, we explain that their approach lacks logical rigor and their major argument is broadly consistent with, rather than contradictory to our original conclusions. We also note that climate-culture relationships similar to those that we observe in China have been observed for other cultures around the world. 相似文献
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Liang Kong Zheng Jiang Henry H.-C. Lai Tiancun Xiao Peter P. Edwards 《自然科学进展(英文版)》2013,23(3):286-293
Noble metal-surface-deposited BiOCl photocatalysts were prepared through photo-deposition and used for photodecomposition of Rhodamine B(RhB).The received materials were characterised using X-ray photoemission spectroscopy(XPS),UV-vis diffuse reflectance spectroscopy(UV-vis DRS),and X-ray diffraction(XRD) to understand the influence of surface deposited noble metals.The results showed that the noble metal species on the surface of BiOCl are in metallic state,which also brought about enhanced light absorption in broad UV-vis region due to plasmonic effects induced by the surfacedeposited noble metal species.All the samples showed good activity in photodecomposition of RhB under UV-light irradiation,but only Ag/BiOCl was more active than bulk BiOCl.The mechanism of the different reactivity of these noble-metal modified BiOCl was tentatively proposed based on the band structure and the interactions between noble metals and the BiOCl. 相似文献
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Knowledge of the evolution of pedogenic processes in the carbonate area is important to understand the dynamics of rock desertification.A precisely-dated stalagmite δ13C record between 61.3 and 50.5 ka BP from southwestern China,potentially related to soil biogenic CO2 production,shifts within a narrow range between -9‰ and -7‰,and exhibits a prominent cycle of 350-470 a,independent of the Asian monsoon changes.This indicates that a threshold effect might control the amplitude of calcite δ13C variability,likely associated with the vertical soil loss in the carbonate area.The periodic δ13C changes reflect that the loss/recovery of soil cover can operate on centennial scale.Thus,the rock desertification in southwestern China might at least initiate 60 ka ago and should be of natural origin. 相似文献
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Tarttelin EE Fransen MP Edwards PC Hankins MW Schertler GF Vogel R Lucas RJ Bellingham J 《Cellular and molecular life sciences : CMLS》2011,68(22):3713-3723
Photoreception by vertebrates enables both image-forming vision and non-image-forming responses such as circadian photoentrainment.
Over the recent years, distinct non-rod non-cone photopigments have been found to support circadian photoreception in diverse
species. By allowing specialization to this sensory task a selective advantage is implied, but the nature of that specialization
remains elusive. We have used the presence of distinct rod opsin genes specialized to either image-forming (retinal rod opsin)
or non-image-forming (pineal exo-rod opsin) photoreception in ray-finned fish (Actinopterygii) to gain a unique insight into this problem. A comparison of biochemical features for these paralogous opsins in two model
teleosts, Fugu pufferfish (Takifugu rubripes) and zebrafish (Danio rerio), reveals striking differences. While spectral sensitivity is largely unaltered by specialization to the pineal environment,
in other aspects exo-rod opsins exhibit a behavior that is quite distinct from the cardinal features of the rod opsin family.
While they display a similar thermal stability, they show a greater than tenfold reduction in the lifetime of the signaling
active Meta II photoproduct. We show that these features reflect structural changes in retinal association domains of helices
3 and 5 but, interestingly, not at either of the two residues known to define these characteristics in cone opsins. Our findings
suggest that the requirements of non-image-forming photoreception have lead exo-rod opsin to adopt a characteristic that seemingly
favors efficient bleach recovery but not at the expense of absolute sensitivity. 相似文献