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MacArthur DG Balasubramanian S Frankish A Huang N Morris J Walter K Jostins L Habegger L Pickrell JK Montgomery SB Albers CA Zhang ZD Conrad DF Lunter G Zheng H Ayub Q DePristo MA Banks E Hu M Handsaker RE Rosenfeld JA Fromer M Jin M Mu XJ Khurana E Ye K Kay M Saunders GI Suner MM Hunt T Barnes IH Amid C Carvalho-Silva DR Bignell AH Snow C Yngvadottir B Bumpstead S Cooper DN Xue Y Romero IG; Genomes Project Consortium Wang J Li Y Gibbs RA McCarroll SA Dermitzakis ET Pritchard JK Barrett JC 《Science (New York, N.Y.)》2012,335(6070):823-828
Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF variants with ~20 genes completely inactivated. We identify rare and likely deleterious LoF alleles, including 26 known and 21 predicted severe disease-causing variants, as well as common LoF variants in nonessential genes. We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies. 相似文献
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Prevalence and molecular characterization of bovine Cryptosporidium in Qazvin province, Iran 总被引：1，自引：0，他引：1
Akbar Keshavarz Ali Haghighi Amid Athari Bahram Kazemi Alireza Abadi Ehsan Nazemalhosseini Mojarad 《Veterinary parasitology》2009,160(3-4):316-318
The aim of this study was to determine the prevalence, variability with host age, and the genotypes of species of Cryptosporidium in cattle from 15 dairy farms in Qazvin province, Iran. Fecal samples, collected from 272 cattle during May 2006 to December 2007, were characterized microscopically. Oocysts from 51 positive samples were analyzed using PCR assay of 18S SSU rRNA, restriction fragment length polymorphism (RFLP) and sequencing. We identified 72.6% of the positive samples as Cryptosporidium parvum, 17.7% as Cryptosporidium andersoni, 7.8% as Cryptosporidium bovis and 1.9% as a novel genotype of C. parvum possessing a single mutation on MboII restriction. An infection rate of 19.5% of C. parvum among 174 pre-weaned calves was significantly higher than the 3.1% among 98 post-weaned calves (P < 0.0006). This is the first report of C. bovis and the new subgenotype of C. parvum in Iranian cattle. 相似文献
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P. Bejdić R. Avdić Lj. Amidžić V. Ćutahija F. Tandir N. Hadžiomerović A. Katica N. Mlaćo 《Anatomia, histologia, embryologia》2018,47(1):46-50
Ultrastructure of plasma cells in Harderian gland was investigated using the transmission electron microscopy. For this research, we examined the glands of 32 laying hens collected at 1, 7, 20 and 40 days and 4, 6, 8 and 12 months of the birds' ages. The research showed that the stroma of the gland contains a large number of lymphocytes and plasma cells. Most of the plasma cells are mature, but morphologically do not show productive activity. Only some individual plasma cells, situated under the secretory epithelium of primary and secondary ducts, have extremely dilated cisternae of rough endoplasmic reticulum which contain moderately dense, granular material. The morphology of these cells indicates that they are in active stage of immunoglobulin production. Also, we identified plasma cells with two types of Russell bodies. One type of these bodies was small, round or oval, while the other had irregular, angular shape. It was noted that one plasma cell never contains both type of Russell bodies at the same time. These cells were often affected by apoptosis. Among them, in deeper part of the stroma, were situated the small plasmablast cells. 相似文献
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Yeliz Yukselen-Aksoy Amid P. Khodadoust Krishna R. Reddy 《Water, air, and soil pollution》2010,209(1-4):419-427
The effectiveness of persulfate oxidation for the destruction of tetrachlorobiphenyl a representative polychlorobiphenyl (PCB), in spiked subsurface soils was evaluated in this study. Kaolin and glacial till soils were selected as representative low permeability soils; both soils were spiked with 50 mg PCB per dry kilogram of soil. Activation of persulfate oxidation was necessary to achieve effective destruction of PCBs in soils. As persulfate oxidation activators, temperature and high pH were used in order to maximize PCB destruction. In addition, the effect of oxidant dose and reaction time was investigated. The optimal dose for persulfate was found to be 30% for maximum oxidation. The persulfate activation with temperature of 45°C was superior to persulfate activation with high pH (pH 12), where higher PCB destructions were observed for kaolin and glacial till soils. PCB destruction increased with reaction time, where maximum degradation was achieved after 7 days. The highest PCB destruction was achieved with temperature activation at 45°C using a dosage of 30% persulfate at pH 12 for kaolin and glacial till soils after 7 days. 相似文献
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W. K. Al‐Murrani A. Kassab H. Z. Al‐Sam A. M. K. Al‐Athari 《British poultry science》1997,38(2):159-163
1. Two experiments were conducted to examine the Heterophil/Lymphocyte ratio (H/L) as criterion for selection for resistance to heat stress and some aspects of general resistance in domestic fowls.
2. The first experiment on a small sample (n = 64) of light breed Iraqi local fowls showed that this ratio could be used as an indicator of heat stress resistance.
3. The second experiment on a large sample (n= 1160) of heavy parent stock confirmed the results. It showed that there was a different H/L ratio for the two strains and that there was much individual variability in the H/L ratio within‐strain that could be utilised for individual selection for heat resistance.
4. The H/L ratio was highly heritable; Resistant and Sensitive groups, defining all individuals with an H/L ratio over the upper 95% confidence limit as ‘Sensitive’ and those below as ‘Resistant’, produced progeny with significantly different H/L ratios.
5. There were indications of differences in mortality between the progeny of the Resistant and the Sensitive groups.
6. The H/L indicator could be used as a criterion to select for heat stress resistance. 相似文献
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Amid Derayat Árni Magnússon Agnar Steinarsson Björn Björnsson 《Fish physiology and biochemistry》2013,39(5):1195-1203
Induction of triploidy has been suggested as an effective tool to prevent spawning of farmed fish. This experiment examined the growth potential of triploid cod when reared communally with diploid ones after the juvenile stage. Pressure treatment was used to induce triploidy in a batch of cod eggs in April 2009. The resulting offspring were reared separately from their diploid counterparts until they reached the proper size for PIT tagging. At the age of 8 months, an equal number of 115 diploids (135.5 ± 3.95 g) and triploids (93.6 ± 2.63 g) were communally reared in a circular flow-through tank until the age of 22 months. By the end of this rearing period, diploids (1,002.4 ± 39.9 g) were significantly heavier than triploids (654.6 ± 27.7 g), but the specific growth rate did not differ significantly during the growth trial. Gonadal development at the age of 22 months was also lower among triploids than diploids, especially for females (5.3 and 91.9 %) but also for males (32.5 and 72.7 %). Sterility among female triploids was evident by the reduced size and dysfunctional gonads, but gonadal development in male triploids was less suppressed. Prevalence of body deformities was, however, significantly higher among triploids (62.6 %) than diploids (33.9 %). Higher prevalence of deformities in triploid cod underlines the need for further fine-tuning of the triploidization procedure or finding other methods of sterilization. At present, triploid cod are still far from being established as an alternative for commercial production. 相似文献
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