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Summary Restriction fragment length polymorphism (RFLP) analysis was performed in three Finnish families with different subtypes of acute intermittent porphyria (AIP): 1) cross-reacting immunological material (CRIM)-negative with low erythrocyte porphobilinogen (PBG)-deaminase activity, 2) CRIM-positive with low PBG-deaminase activity and 3) CRIM-negative with normal PBG-deaminase activity. The disease-associated RFLP haplotype (A2B1C2) of the PBG-deaminase gene was the same in each family. In all three families, RFLP linkage analysis resulted in highly positive lod scores. The maximal lod score (4.3) was obtained at the recombinant fraction of zero, thus confirming a tight linkage of AIP to the PBG-deaminase locus. Of the 62 family members tested, 30 had the disease-associated haplotype; in 5 of them, conventional tests for AIP were normal and in one, uncertain. RFLP analysis can thus reveal new gene carriers and help in the diagnosis of individuals with uncertain results in other laboratory tests.  相似文献   

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Human physical performance is notably reduced with ageing. Although the effects of ageing are often compounded by disuse, the study of master athletes provides an opportunity for investigating the effects of ageing per se. It is often held that sprinting is more affected than endurance performance. However, past analyses of master athletic world record data have yielded opposite observations. We argue here that our understanding of these data improves by considering how, biomechanically, metabolic power is related to athletic performance. In line with earlier studies, our analysis showed that running speed declines with age in a more pronounced way for endurance events than for sprinting events, confirming former studies. However, when assessing the metabolic power required to achieve the running world records, sprint and endurance events show a relatively uniform decline with age across the different events. This study has reconciled formerly conflicting scientific results and improves our understanding of the ageing process. However, it is unclear as to which are the governing mechanisms that cause the different systems in our body, responsible for sprinting and for endurance performance, to be affected by ageing in a remarkably uniform way.  相似文献   

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The chromosomes of three Primates Macaca mulatta, Presbytis entellus and Loris tardigradus have been investigated and the results presented in this paper.  相似文献   

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Jeotgal is a traditional Korean seafood fermented by indigenous microbes. The bacterial community in five myeolchi-jeot (Engraulis japonica), five meongge-jeot (Halocynthia roretzi), and six saeu-jeot (Acetes japonicas) produced in South Korea was analyzed by barcoded pyrosequencing targeting the V1/V2 hyper-variable regions of the 16S rRNA gene. All samples were dominated by the phyla Firmicutes, which represented 67.7% (SD = 27.2%) of the population. Tetragenococcus halophilus and Tetragenococcus muriaticus were the predominant species in myeolchi-jeot. The LABs, Lactobacillus sakei, Lactobacillus curvatus, and Weissella koreensis were the predominant species in meongge-jeot. In myeolchi-jeot and meongge-jeot, the bacterial communities within samples were consistent in their predominance, however each of saeu-jeot samples had inter-individual variety in the bacterial community leading to the difficulties of standardization for the commercial production of saeu-jeot. The results of this study will conclusively help to expand our basic knowledge of jeotgal and the related microorganisms involved in food fermentation.  相似文献   

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The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation coefficient) were evaluated. These three statistics, in combination, were reasonably sensitive in detecting the presence of a major locus and in discriminating between phenotypes with genetic effects and those with no genetic component. However, they were unable to discriminate between major genic and polygenically determined phenotypic models.  相似文献   

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《菌物学报》2017,(4):421-432
报道了柔膜菌目1个新种——镰孢状胶被盘菌Crocicreas fusarioides和3个中国新记录种——迪氏膜盘菌Hymenoscyphus dearnessii、韩国膜盘菌H.koreanus和叶轴生粒毛盘菌Lachnum rachidicola。提供了各个种的特征描述和图示,以及韩国膜盘菌和叶轴生粒毛盘菌的DNA序列数据。  相似文献   

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The cineradiographic technique, whereby, at 64 frames/second, the successive positions of every bone segment of animals in motion can be accurately analyzed, was used to study the vertical leap of a Galago alleni from the ground position. This jump, 13 to 14 times the body length of the animal excluding the tail, is a record among primates challenged only by the tarsier. Such vertical leaps from the ground are a common mode of locomotion for the galago. Two different patterns were observed, a symmetrical and an asymmetrical jump. In the former, the two hind limbs move in the same manner and simultaneously; and the propulsive force is equally distributed in both limbs. In the latter (more frequent in our records), the animal shifts its weight onto one foot during the preparatory phase and lifts the other; thus, only one of the hind limbs is responsible for the launching. The angular variations of every knee and ankle articulation and the successive positions of the hind limb bones were measured and diagrammatically analyzed frame by frame. A short film was made to illustrate the cineradiographic technique; it cinematographically and cineradiographically records in successive sequence the galago's leap from the ground. The symmetrical and asymmetrical jumps are also schematically presented.  相似文献   

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Three groups of antibiotics were established according to their mechanism of action on the incorporation of14C-labelled precursors inEuglena gracilis:1. antibiotics markedly inhibiting nucleic acid synthesis and negligibly affecting protein synthesis and inducing permanently bleachedE. gracilis; 2. antibiotics markedly inhibiting protein synthesis and only moderately nucleic acid synthesis and not causing permanent bleaching ofE. gracilis; 3. compounds inhibiting both protein synthesis and nucleic acid synthesis to a similar degree, some of them bringing about permanent bleaching ofE. gracilis. Nitrofurantoin was comparable to compounds of the first group, sodium azide to those of the third group. Both exhibited 100 % bleaching ofE. gracilis, although with the latter this occurred only after a short-term increase of the incubation temperature from 25 to 37 °C.  相似文献   

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A unique family of putative ion channels that are related to voltage-gated sodium and calcium channels has been identified in genomic and cDNA studies of metazoans. Aside from evidence for expression of family members in the nervous system, little is known about the operation of the channel or its functional significance. In the present study, this conserved family's sole Drosophila member, a gene known both as CG1517 and as Dmalpha1U, is shown to correspond to the narrow abdomen (na) gene and is the locus of a set of mutations that affect sensitivity to anesthetics. Immunohistochemistry of adult heads reveals that the channel is expressed in the neuropil of the central complex and optic lobe; expression is severely depressed in the mutants. In addition to previously described defects, the mutant phenotype is demonstrated here to include dysfunction in the coupling between light and locomotor behavior. Most dramatically, mutant flies have an inversion of relative locomotor activity in light versus dark. The involvement of the channel in daily rhythms of the fruit fly is especially provocative because the human ortholog lies in a candidate region linked to bipolar disorder, a disease frequently associated with altered diurnal behavior.  相似文献   

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