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1.
Mesotocin ([Ile8]-oxytocin), lysipressin ([ Lys8]-vasopressin) and phenypressin ([Phe8]-vasopressin) have been identified in the western gray kangaroo (Macropus fuliginosus) as well as four other macropodids. Lysipressin and phenypressin, which differ by the amino acids in positions 2 (Tyr/Phe) and 8 (Lys/Arg) are likely products of two separate vasopressin-like genes. It is assumed that arginine vasopressin found in most mammals is the product of two identical genes which can be revealed in some species by differential mutations as seen usually in marsupials. The duality can also be revealed by differential mutations in another domain of the precursors, such as the neurophysin (MSEL-neurophysin), as observed in the ox.  相似文献   
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Our experience over three years (1984-1986) is described in carrier detection and prenatal testing for hemophilia. We have analysed 50 families: 37 hemophilia A and 13 hemophilia B, 22 isolated cases and 28 familial. Eighty-three women belonging to this panel asked for a genetic risk. Pedigree and coagulation studies were performed to estimate genetic risks according to the Bayesian method. At this point, 40% of the females at risk were recognized carriers before the DNA analysis. Molecular biology allowed the detection of only 7% more carriers and the exclusion of 34%. In 19% of the cases, it was impossible to estimate the genetic risk because the families were uninformative for the DNA polymorphisms used. Twenty-two prenatal diagnoses were performed; 3 affected male fetuses were recognized by DNA analysis and pregnancies were terminated. Eleven healthy boys were born.  相似文献   
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The neurohypophysial hormones of the 1-month-old bovine fetus have been identified by their positions in ion-exchange chromatography and their retention times in high-pressure reverse-phase partition chromatography. Arginine vasopressin and oxytocin have been recognized. The molar ratio vasopressin/oxytocin in neurohypophysis is about 6 in the 1-month-old fetus compared with 4 in the 3-month-old fetus, 2.7 in the 7-month-old fetus and 1 in the adult. Vasotocin is virtually absent even in the early fetus (less than 0.1% of arginine vasopressin). The occurrence of a vasotocin gene expressed in the fetus but silent in the adult appears unlikely.  相似文献   
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Marfan disease     
After reviewing the main features of the Marfan syndrome (musculoskeletal, ocular, cardiovascular, pulmonary abnormalities), its autosomal dominant inheritance with high penetrance but variable phenotype and presence of "soft" conditions preventing an easy diagnosis, the authors report their own data relevant to 73 probands: ratio of each clinical manifestation, state of 34% of familial cases and display of a paternal age effect in the sporadic cases. The pathogenic defect is unknown as like the location of the gene. The difficulties of the genetic counseling are then approached: unpredictability of the severity and of the prognosis in the unborn children of an affected patient, benefit of the echocardiography in the management of people at risk.  相似文献   
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A quantitative model of cerebellar cortical function is described with a complete formalization based on (i) the topology of cerebellar cortical neuronal network, (ii) some particular synaptic properties of cell classes in cerebellum cortex, and (iii) the dynamics of excitation in this network. For (i), a construction of functional classes around one Purkinje cell is given and their existence is discussed. For (ii), as in Marr-Albus model, the modifiability of synapses between parallel fibres and Purkinje cell is assumed. But the formalization permits to consider the consequences of such a property at the level of glomerulus (with granule cells) which is known as a complex transformation system. For (iii) habituation rules are assumed. It is shown that this method leads to some interesting properties in the functioning of cerebellar cortex. Particularly, emitting frequency along a Purkinje cell axon results from a discrimination by the system between transformed input signals and an external noise due to all other contexts, and learning could be considered as the result of a conflict between a set of patterns and the transformed input signals. This model could be a basis for future numerical simulations.  相似文献   
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Summary A histological, histochemical and ultrastrucutral study of the pars intercerebralis (PI) has been made in Locusta migratoria. The acellular neural lamella is made up of an elastic tissue and collagen fibrils. The cells of the perilemma contain numerous lysosome structures and lipid granules.Three different types of neurosecretory cells (NSC A, B and C) have been distinguished in the PI associated with giant neurons.The cells termed A and B seem not to have an activity cycle during the two last larval instars. At the moment of sexual maturity the NSC A show an important accumulation of neurosecretory material and their number increases at the expense of the NSC B. The NSC A, which are characterized by a highly developped endoplasmic reticulum, contain numerous secretory granules which appear to be individualized in the Golgi complex in three different ways. The NSC B, with a reduced endoplasmic reticulum and an almost quiescent Golgi complex, contain abundant lysosome structures and more seldom some neurosecretory granules. In fact, the study of the fine structure shows different intermediate types, linking in a continuous way typical A cells and typical B cells. NSC A and NSC B might correspond to two opposed stages of secretory activity of one single cell type: the A cell representing the activity stage and the B cell the quiescent stage.NSC C show an accumulation of their neurosecretory products in relation to metamorphosis and sexual maturity. Ultrastructural evidence confirms their neurosecretory activity.A mode of regulating neurosecretion in NSC A and B by internal catabolism of the secretion and formation of lysosome like structures is discussed in the present paper.The giant neurons, which are surrounded by a glial envelope (trophospongium), contain several dense granules originated from Golgi complex.  相似文献   
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The development of cytochrome b558 (Cyt b) as determined spectrophotometrically, was investigated in human polymorphonuclear neutrophils (PMN), monocytes (MN) and during differentiation of HL-60 and U 937 cells induced by retinoic acid (RA) alone or in combination with IFN gamma. O2- release in response to a panel of stimulating agents, ie latex particles, opsonised zymosan, PMA, Con A and fMLP, was monitored by lucigenin-amplified chemiluminescence (CL). In parallel the expression of myeloperoxidase (MPO) was investigated and its catalytic activity on H2O2 related to luminol-amplified CL responses. In mature PMN and MN phagocytes, regardless of the stimulating agent, the O2- production is closely related to Cyt b but not to MPO specific contents. In differentiated HL-60 and U 937 cells, the oxidative metabolism increases in parallel with Cyt b specific contents, both being enhanced by the addition of IFN gamma to the RA treatment. However, marked differences in the O2- production intensities are observed depending on the stimulating agent tested and the state of differentiation considered. The PMA-stimulated O2- production is rather low ie 100 and 20 times less in granulocytic HL-60 and monocyto-macrophagic U 937 cells than in PMN and MN respectively. Latex, zymosan and Con A stimulated responses are close to those of MN, in monocyte-macrophagic U 937 cells. In conclusion, these data show that during differentiation; 1), Cyt b plays a critical role in O2- production; 2), the pathways leading to NADPH oxidase activation are diversely modulated following phagocyte differentiation with IFN gamma and/or with RA.  相似文献   
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