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81.
Friedreich's ataxia is the first known autosomal recessive disease caused by an unstable trinucleotide expansion mutation. The most frequent mutation is expansion of a GAA repeat in the first intron of gene X25. We studied transmission of the expanded GAA repeat in 37 Friedreich's ataxia pedigrees and analysed blood and sperm alleles in eight patients. We showed intergenerational instability in 84% of the alleles with an overall excess of contractions. Both contractions and expansions of the GAA repeat occurred in maternal transmission with a stronger tendency to expand for smaller repeats and to contract for longer repeats. Paternally transmitted alleles contracted only. Parental age and the intergenerational change in expansion size were directly correlated in maternal transmission and inversely in paternal transmission. The size of the GAA expansion was slightly lower in patients than heterozygous carriers. Sperm analysis confirmed the tendency to contract of paternal alleles, which was more marked with ageing. The degree of contraction of the GAA repeat in sperm was much higher than that found in intergenerational transmission and was directly related to the repeat size. A blood expanded allele reverted to normal size in the sperm of one patient. This study suggests the existence of different mutational mechanisms in Friedreich's ataxia alleles, which occur both pre- and post-zygotically.  相似文献   
82.
Two distinct types of cDNAs for fructose-1,6-bisphosphate (FBP) aldolase, Ce-1 and Ce-2, have been isolated from nematode Caenorhabditis elegans, and the respective recombinant aldolase isozymes, CE-1 and CE-2, have been purified and characterized. The Ce-1 and Ce-2 are 1282 and 1248 bp in total length, respectively, and both have an open reading frame of 1098 bp, which encodes 366 amino acid residues. The entire amino acid sequences deduced from Ce-1 and Ce-2 show a high degree of identity to one another and to those of vertebrate and invertebrate aldolases. The highest sequence diversity was found in the carboxyl-terminal region that corresponds to one of the isozyme group-specific sequences of vertebrate aldolase isozymes that play a role in determining isozyme-specific functions. Southern blot analysis suggests that CE-1 and CE-2 are encoded by different genes. Concerning general or kinetic properties, CE-2 is quite different from CE-1. CE-1 exhibits unique characteristics which are not identical to any aldolase isozymes previously reported, whereas CE-2 is similar to vertebrate aldolase C. These results suggest that CE-2 might preserve the properties of a progenitor aldolase with a moderate preference for FBP over fructose 1-phosphate (F1P) as a substrate, whereas CE-1 evolved to act as an intrinsic enzyme that exhibits a much broader substrate specificity than dose CE-2.  相似文献   
83.
This paper proposes a real-time control method of a series resonant high-frequency linked DC-AC converter employing quasi-zero current switching (quasi-ZCS) and a feedback control method for sinusoidal output voltage. An approximate analysis of the converter is performed, and then simplified equations and an equivalent circuit similar to the conventional PWM inverters/inverters are obtained. A real-time feedback control of the converter is realized using the equivalent circuit without detecting HF link current. The usefulness of the proposed control algorithm is confirmed by experimental results  相似文献   
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85.
In a study of polyacrylamide in solutions we have required the rapid characterization on chromatographies. The application to the aqueous solution of the GPC using controlled-porosity glass has been examined from both the viewpoint of the effect of salt addition and the GPC mechanism. An adequate addition to neutral salt, 0.005M KCI to the eluent, gave rise to the elution behaviors being in accord with the hydrodynamic volume concept of the GPC separation.  相似文献   
86.
A highly specific enzyme immunoassay for determining hCG was established by using beta-D-galactosidase as label. In order to increase the specificity of the assay, an antiserum against whole hCG was purified on a column of hCG beta carboxyl-terminal peptide (residues 123-145) covalently linked to Sepharose 4B. The antibody (N101S) thus prepared showed a weak cross-reactivity with human LH in an assay using hCG-enzyme conjugate, but the slight cross-reactivity was virtually avoided when an hCG beta carboxyl-terminal peptide was used as a peptide in the enzyme conjugate. N101S antibody was compared with antiserum (B1B) directed against a carboxyl-terminal peptide (123-145). In hCG measurement N101S gave about 30 times higher sensitivity than B1B, although the former antibody was less sensitive to carboxyl-terminal peptides of hCG beta. The enzyme immunoassay using a combination of N101S antibody and a carboxyl-terminal peptide (130-145)-enzyme conjugate was able to detect as little as 0.25 mIU of hCG without the interference of LH. The performance and validity of this assay were comparable to those of conventional radioimmunoassay.  相似文献   
87.
88.
Nittono H  Hamada A  Hori T 《Human factors》2003,45(4):591-599
As a first step in developing a new psychophysiological technique to assess mental workload in human-computer interaction (HCI), we recorded event-related brain potentials for visual stimuli triggered by voluntary mouse clicks. Twelve university students clicked a mouse button at their own pace. Each click triggered 1 of 3 alphabetic letters assigned to frequent standard, rare target, and rare nontarget stimuli. Counting target stimuli was required. Both rare stimuli elicited a P3 (P300) wave, the amplitude of which was larger when the stimuli were triggered by mouse clicks than when the same stimuli were presented automatically without mouse clicks. Postmotor potentials associated with clicking were small in amplitude (<2 microV) and did not temporally overlap with the P3. The findings suggest that the P3 can be recorded for a computer's response to the user's intentional action and may be used as a measure of perceptual-central processing resources allocated to the HCI task. Actual or potential applications of this research include the evaluation of the user's attentional state during HCI byrecording brain potentials in the "mouse click" or action-perception paradigm.  相似文献   
89.
Among passerines, Bengali finches are known to sing extremely complex courtship songs with three hierarchical structures: namely, the element, the chunk, and the syntax. In this work, we theoretically studied the mechanism of the song of Bengali finches in aides to provide a dynamic view of the development of birdsong learning. We first constructed a model of the Elman network with chaotic neurons that successfully learned the supervisor signal defined by a simple finite-state syntax. Second, we focused on the process of individual-specific increases in the complexity of song syntax. We propose a new learning algorithm to produce the intrinsic diversification of song syntax without a supervisor on the basis of the itinerant dynamics of chaotic neural networks and the Hebbian learning rule. The emergence of novel syntax modifying the acquired syntax is demonstrated. This work was presented in part at the 11th International Symposium on Artificial Life and Robotics, Oita, Japan, January 23–25, 2006  相似文献   
90.
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