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11.
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and exclude the bone morphogenetic protein 6 gene (BMP6) as a candidate for the disease by cytogenetic localization and genetic recombination. CCD was linked with a maximal two-point LOD score of 7.22 with marker D6S452 at theta = 0. One relative with a recombination between D6S451 and D6S459 and another individual with a recombination between D6S465 and CCD places the mutation within a 7 cM region between D6S451 and D6S465 at 6p21. A phage P1 genomic clone spanning most of the BMP6 gene hybridized to chromosome 6 in band region p23-p24 using FISH analysis, placing this gene cytogenetically more distal than the region of linkage for CCD. We derived a new polymorphic marker from this same P1 clone and found recombinations between the marker and CCD in this family. The results confirm the map position of CCD on 6p21, further refine the CCD genetic interval by identifying a recombination between D6S451 and D6S459, and exclude BMP6 as a candidate gene.  相似文献   
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We cloned the Saccharomyces kluyveri HIS3 homolog, k-HIS3, and made a partial deletion of the gene. The k-HIS3 gene complemented a HIS3 deletion in S. cerevisiae. The DNA sequences of the open reading frames (ORFs) of the HIS3 homologs are 70% identical at the DNA level and 83% identical at the deduced amino acid level. The ORF upstream of the k-HIS3 gene is related to the PET56 gene of S. cerevisiae found upstream of the HIS3 gene of S. cerevisiae. The ORF downstream from the k-HIS3 gene is not related to the DED1 gene found downstream of the HIS3 gene in S. cerevisiae.  相似文献   
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Readers' eye movements were monitored as they read sentences containing noun-noun compounds that varied in frequency (e.g., elevator mechanic, mountain lion). The left constituent of the compound was either plausible or implausible as a head noun at the point at which it appeared, whereas the compound as a whole was always plausible. When the head noun analysis of the left constituent was implausible, reading times on this word were inflated, beginning with the first fixation. This finding is consistent with previous demonstrations of very rapid effects of plausibility on eye movements. Compound frequency did not modulate the plausibility effect, and all disruption was resolved by the time readers' eyes moved to the next word. These findings suggest (contra Kennison, 2005) that the parser initially analyzes a singular noun as a head instead of a modifier. In addition, the findings confirm that the very rapid effect of plausibility on eye movements is not due to strategic factors, because in the present experiment, unlike in previous demonstrations, this effect appeared in sentences that were globally plausible. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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低纹波电压正至负压dc/dc转换器如今广泛应用于高频和对噪声敏感的磁盘驱动器、电池供电设备、便携式电脑及汽车电子。类似于正电压降压转换器,如果在V_IN与V_OUT之间接大容量电容器,而不是在输入V_IN与地之间,一个正至负转换器可以获得低的输出纹波电压。人们通常误认为第一种接法的正至负转换器有很大的噪声,  相似文献   
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A method for analyzing the fluorine content of glass using a microwave oven to digest the glass is presented. Analysis time and secondary waste generation are reduced using this method, without sacrificing accuracy.  相似文献   
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The observation that natural curves and surfaces are often fractal suggests that people may be sensitive to their statistical properties. The perceptual protocols that underlie discrimination between fractals and between other types of random contour and fractals are examined. Discrimination algorithms that have precisely the same sensitivities as human observers are constructed. These algorithms do not recognize the integrated scale hierarchy intrinsic to fractal form and operate by imposing a metatheory of structure that is based on a signal–noise distinction. The success of the algorithms implies that (1) self-affinity in random fractals is not perceptually recovered and (2) people have a natural disposition to view contour in terms of signal and noise. The authors propose that this disposition be understood as a principle of perceptual organization. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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BACKGROUND: We have previously observed a potentiation of the metabolic response to cachectin/tumor necrosis factor (TNF) by total parenteral nutrition (TPN) but not in anorexic orally fed animals. We hypothesized that nutritional status might affect TNF clearance kinetics. METHODS: We compared the clearance of a bolus of labeled TNF in TPN-fed animals given sufficient nutrients to grow called weight-gaining rats (WGR) with those given 50% of the WGR called weight-losing rats (WLR) and with orally fed rats (OFR). Data were analyzed using a two-compartment open system model and by linear systems analysis. RESULTS: The data from both types of analysis indicator that although metabolic clearance was similar, WGR had a slower fractional TNF clearance rate (FCR) as well as a larger volume of distribution than WLR or OFR. Further analysis showed that an increased proportion of the total mass of TNF resided in a plasma-associated compartment in WGR compared with WLR and OFR. In addition, WGR had reduced uptake of labeled TNF by the kidney. CONCLUSION: The data suggest that nutrition support influences either the distribution of TNF or the FCR, resulting in a greater retention in the plasma-associated compartment with intact absolute removal rates. This study has important implications concerning the type of nutrition support provided to the critically ill patient because our data suggest that clinical states with increased circulating TNF levels may be adversely affected by currently available nutritional practices.  相似文献   
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In this study, 64% of children aged 7–12 yrs with sickle cell disease were found to have a parent-reported behavior problem, and 50% met the criteria for a Diagnostic and Statistical Manual of Mental Disorders-III-Revised (DSM-III-R) diagnosis based on a structured clinical interview of the child. Internalizing types of behavior problems and diagnoses were the most frequent. Support was provided for a transactional stress and coping model in delineating the processes associated with child adjustment. In particular, maternal anxiety accounted for 16–33% of the variance in mother-reported internalizing and externalizing behavior problems, respectively, and child pain-coping strategies accounted for 21% of the variance in child-reported adjustment problems. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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