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71.
Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3. 下载免费PDF全文
H Tamary L Shalmon H Shalev A Halil D Dobrushin N Ashkenazi M Zoldan P Resnitzky M Korostishevsky B Bonne-Tamir R Zaizov 《American journal of human genetics》1998,62(5):1062-1069
Congenital dyserythropoietic anemias (CDA) are a rare group of red-blood-cell disorders of unknown etiology that are characterized by ineffective erythropoiesis, pathognomonic cytopathology of the nucleated red blood cells in the bone marrow, and secondary hemochromatosis. In CDA type I, bone-marrow electron microscopy reveals characteristic findings in erythroid precursors, including spongy heterochromatin and enlarged nuclear pores. Since the genetic basis of CDA type I is not evident, we used homozygosity and linkage mapping to localize the genetic defect responsible for CDA type I in 25 Bedouins from four large consanguineous families. We report the linkage of this disease to markers on chromosome 15 located at q15. 1-q15.3. Fourteen markers within a 12-cM interval were typed in the relevant family members. Nine of the markers yielded maximum LOD scores of 1.625-12.928 at a recombination fraction of .00. Linkage disequilibrium was found only with marker D15S779. Haplotype analysis revealed eight different carrier haplotypes and highlighted the existence of a founder haplotype. Identification of historical crossover events further narrowed the gene location to between D15S779 and D15S778. The data suggest localization of the CDA type I gene within a 0.5-cM interval. The founder mutation probably occurred >/= 400 years ago. Sequence analysis of the coding region of protein 4.2, the only known erythroid-specific gene in the locus, did not reveal any change in the CDA type I patients. Future analysis of this locus may lead to the identification of a gene essential to normal erythropoiesis. 相似文献
72.
Halil Erdem 《Saudi Journal of Biological Sciences》2021,28(7):3965-3971
Abiotic stresses caused by cadmium (Cd) contamination in soil retard plant growth and decline the quality of food. Amendment of biochar was reported effective in reduction of mobility, plant uptake and toxicity of Cd in plants. The aim of this study was to investigate the effect of biochar applications produced from corn cob and rice husk at three different pyrolysis temperatures (400, 500 and 600 °C) on Cd uptake of tobacco plants. The results showed that the shoot Cd concentration and content of tobacco plants significantly increased with the application of Cd in increasing doses. The results showed that increasing Cd dosescaused significant increase (P < 0.01) in shoot Cd concentration and content of the tobacco plant at three different pyrolysis temperatures of both corn cob and rice husk biochars. The concentration of Cd was 0.48 mg kg−1 in Cd0 dose of corn cob biochar produced at 500 °C and increased to 61.6 mg kg−1 at Cd5, while Cd concentration increased to 72.3 mg kg−1 with rice husk biochar. Despite the increase in Cd concentrations and content, shoot Cd concentrations and contents were significantly (P < 0.01) reduced with the treatments of corn cob and rice husk biochars produced at different pyrolysis temperatures. The Cd concentration at Cd5 dose in the absence of biochar addition was 90.5 mg kg−1, while Cd concentration at Cd5 dose in 400, 500 and 600 °C treatments of corn cob biochar was reduced to 66.5, 61.6 and 67.3 mg kg−1 respectively, and to 77.0, 72.3 and 70.2 mg kg−1 in rice husk biochar. The results also revealed that corn cob biochar treatments were more effective in reducing Cd uptake of tobacco plants compared to rice husk biochar. Higher specific surface area of corncob biochar compared to rice husk biochar caused to the difference between two biochar sources on Cd uptake of tobacco plants. 相似文献
73.
The biofilm thickness in membrane biofilm reactors (MBfRs) is an important factor affecting system performance because excessive biofilm formation on the membrane surface inhibits gas diffusion to the interior of the biofilm, resulting in a significant reduction in the performance of contaminant removal. This study provides innovative insights into the control of biofilm thickness in O2-based MBfRs by using the quorum quenching (QQ) method. The study was carried out in MBfRs operated at different gas pressures and hydraulic retention times (HRTs) using QQ beads containing Rhodococcus sp. BH4 at different amounts. The highest performance was observed in reactors operated with 0.21 ml QQ bead/cm2 membrane surface area, 12 HRTs and 1.40 atm. Over this period, the performance increase in chemical oxygen demand (COD) removal was 25%, while the biofilm thickness on the membrane surface was determined to be 250 μm. Moreover, acetate and equivalent oxygen flux results reached 6080 and 10 640 mg·m−2·d−1 maximum values, respectively. The extracellular polymeric substances of the biofilm decreased significantly with the increase of gas pressure and QQ beads amount. Polymerase chain reaction denaturing gradient gel electrophoresis results showed that the microbial community in the MBfR system changed depending on operating conditions and bead amount. The results showed that the QQ method was an effective method to control the biofilm thickness in MBfR and provide insights for future research. 相似文献
74.
Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease characterized by recurrent fever, serositis and arthritis. The disease is highly prevalent in Mediterranean basin populations. Recently, the gene responsible for FMF (MEFV) was cloned and at least 40 MEFV gene mutations have been identified. The most frequently observed mutations in the MEFV gene are M694V, M694I, M680I, and V726A. These occur within exon 10 of the gene, and account for 85% of the known MEFV alleles. In this study, the reliability and economical aspects of amplification refractory mutation system (ARMS) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques were compared for analyzing the frequencies of the major point mutations of 90 unrelated patients with FMF from the Cukurova region in Turkey. Both techniques yielded similar results: The ratio of independent alleles of 90 patients carrying one of the tested mutations was 81.1%; patients consisted of 12 different genotypes. In 64 of 90 patients (71.1%) mutations were observed in both alleles. Thirty-six patients (40%) were homozygous for the same mutation, 28 (31.1%) were heterozygous for different mutations. Eighteen patients (20%) were heterozygous for one allele with one of the four mutations but the other allele was unknown. In 8 patients (8.8%) no mutation could be detected. The most frequently observed mutation was M694V (51.66%), followed by M680I (17.22%), V726A (10.55%), and M694I (1.66%). In conclusion ARMS and PCR-RFLP techniques were equally reliable to detect the mutations in Turkish FMF patients. However, the ARMS technique was found to be more rapid and economical than the PCR-RFLP techniques. 相似文献
75.
The effect of glutamine on radiation-induced organ damage 总被引:4,自引:0,他引:4
Erbil Y Oztezcan S Giriş M Barbaros U Olgaç V Bilge H Küçücük H Toker G 《Life sciences》2005,78(4):376-382
Radiation enteritis is a significant clinical problem in patients receiving ionizing radiation directed to the abdomen or pelvis. Although radiation is aimed to be directed against the malignant tissue, adjacent healthy tissues are also affected. The small intestine is the most sensitive organ to radiation. The present study was undertaken to investigate the possible protective effect of glutamine against radiation-induced intestinal, hepatic and pancreatic toxicity. Rats received 1 g/kg/day glutamine for seven days before irradiation and continued for three days after irradiation until sacrifice. Then intestinal, pancreatic and hepatic myeloperoxidase (MPO) activities, malondialdehyde (MDA) levels and caspase-3 activities of the sacrificed rats were measured. Irradiation significantly increased the intestinal and pancreatic MPO and caspase-3 activities and MDA levels in comparison to sham group. Glutamine treatment significantly decreased this elevation. Histopathological examination revealed that the intestinal mucosal structure was preserved and pancreatic inflammation decreased in the glutamine treated group. In irradiation group, NF-kappaB over expression was detected. There was no significant difference in histopathological and biochemical examinations of the liver between the groups. In conclusion, glutamine has beneficial effects on intestinal and pancreatic damage in abdominal irradiation through the inflammatory process and apoptosis. 相似文献
76.
The biology and life table parameters of Agistemus industani Gonzalez, A. cyprius Gonzalez, and A. floridanus Gonzalez (Acari: Stigmaeidae) were studied under laboratory conditions using two food sources: Panonychus citri (McGregor) eggs or ice plant, Malephora crocea (Jacquin) Schwantes pollen at 25 degrees C. The larval, protonymph, deutonymph, and adult stages of A. industani fed on citrus red mite eggs. All active stages of A. industani, except the larva, fed on all P. citri stages and the larval stage could not feed on P. citri adults. All immature stages of A. industani fed on M. crocea pollen. Agistemus cyprius larvae fed on P. citri eggs and larvae or ice plant pollen. The nymphal stages fed on P. citri eggs, larvae, and protonymphs but not deutonymphs or adults while A. cyprius deutonymphs and adults fed on all P. citri stages. Adult and nymphal stages of A. cyprius fed on ice plant pollen and successfully completed their development while A. floridanus did not. Agistemus floridanus larvae fed only on P. citri eggs, while the other stages fed on P. citri eggs, larvae, and protonymphs. The developmental times from egg to adult for A. industani and A. cyprius when fed M. crocea pollen were 11.3 and 13.4 days, respectively. Agistemus floridanus was unable to complete its life cycle on a diet of only M. crocea pollen. Agistemus industani, A. cyprius, and A. floridanus completed development from egg to adult in 11.7, 13.8, and 10.8 days, respectively, when fed P. citri eggs. The intrinsic rate of increase (r(m)) values for A. cyprius and A. industani were 0.0311 and 0.1201 per day on the pollen diet. The net reproductive rate (Ro) was 3.58 for A. cyprius and 10.07 for A. industani with generation times (T) of 45.2 and 35.1 days, respectively, on the ice plant pollen diet. The r(m) values for A. cyprius, A. floridanus, and A. industani on the P. citri egg only diet were: 0.0562, 0.1001, and 0.1031 per day, respectively. The Ro values for each species fed P. citri eggs only were: 6.36, 7.90, and 18.70 for A. cyprius, A. floridanus, and A. industani and the generation times (T) for each of the three species were: 35.2, 29.9 and 37.8 days, respectively. 相似文献
77.
Ertabak A Kutluay T Unlü A Türközkan N Cimen B Yaman H 《Cell biochemistry and function》2004,22(3):149-152
The aim of this study was to investigate the effect of desferrioxamine on peroxynitrite-mediated damage in erythrocytes by measuring the 3-nitrotyrosine level and glutathione peroxidase and Na(+)-K(+) ATPase activities in vitro. 3-Nitrotyrosine levels were determined by HPLC; glutathione peroxidase and Na(+)-K(+) ATPase activities were measured by spectrophotometry. Peroxynitrite increased the 3-nitrotyrosine level but decreased both enzyme activities. In the presence of desferrioxamine, glutathione peroxidase activity was increased with a decrease in the 3-nitrotyrosine level. Desferrioxamine was found to possess an important antioxidant activity as assessed in an in vitro system, reducing protein nitration, restoring enzyme activities and maintaining erythrocyte membrane integrity. 相似文献
78.
Janson J. White Juliana F. Mazzeu Zeynep Coban-Akdemir Yavuz Bayram Vahid Bahrambeigi Alexander Hoischen Bregje W.M. van Bon Alper Gezdirici Elif Yilmaz Gulec Francis Ramond Renaud Touraine Julien Thevenon Marwan Shinawi Erin Beaver Jennifer Heeley Julie Hoover-Fong Ceren D. Durmaz Halil Gurhan Karabulut Claudia M.B. Carvalho 《American journal of human genetics》2018,102(1):27-43
79.
Faruk Ozkutlu Levent Ozturk Halil Erdem Mike McLaughlin Ismail Cakmak 《Plant and Soil》2007,290(1-2):323-331
Cadmium (Cd) accumulation in durum wheat grain is a growing concern. Among the factors affecting Cd accumulation in plants,
soil chloride (Cl) concentration plays a critical role. The effect of leaf NaCl application on grain Cd was studied in greenhouse-grown
durum wheat (Triticum turgidum L. durum, cv. Balcali-2000) by immersing (10 s) intact flag leaves into Cd and/or NaCl-containing solutions for 14 times during heading
and dough stages. Immersing flag leaves in solutions containing increasing amount of Cd resulted in substantial increases
in grain Cd concentration. Adding NaCl alone or in combination with the Cd-containing immersion solution promoted accumulation
of Cd in the grains, by up to 41%. In contrast, Zn concentrations of grains were not affected or even decreased by the NaCl
treatments. This is likely due to the effect of Cl complexing Cd and reducing positive charge on the metal ion, an effect
that is much smaller for Zn. Charge reduction or removal (CdCl20 species) would increase the diffusivity/lipophilicity of Cd and enhance its capability to penetrate the leaf epidermis and
across membranes. Of even more significance to human health was the ability of Cl alone to penetrate leaf tissue and mobilize
and enhance shoot Cd transfer to grains, yet reducing or not affecting Zn transfer. 相似文献
80.
A new species of the genus Euscorpius Thorell, 1876is described based on specimens collected from Dilek Peninsula (Davutlar, Aydın) in Turkey. It is characterized by an oligotrichous trichobothrial pattern (Pv= 7, et= 5/6, eb= 4) and small size. Euscorpius (Euscorpius) avcii
sp. n. is the first named species of the subgenus Euscorpius from Turkey. 相似文献