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51.
52.
Zusammenfassung Bei einem normal intelligenten, kleinwüchsigen, 219/12 jährigen Mann mit Hypospadie, fraglicher rudimentärer Vagina und hypergonadotropem Hypogonadismus findet man bei der Biopsie des nur 7 ml großen linken Hodens eine gleichförmige tubuläre Atrophie mit Fehlen des Keimepithels und eine diffuse, kleinherdige Leydigzellwucherung. Sex-Chromatin in den Leydigzellen, im Mundabstrich und Drumsticks negativ. Karyotyp in den Lymphocyten und im Knochenmark normal weiblich (46,XX), in den Fibroblasten jedoch 45,XO.Somit weist dieser Patient Testesgewebe auf, das Y-Chromosom ist aber unauffindbar. Zur Klärung dieser Diskrepanz scheint das Vorhandensein einer dritten, zahlenmäßig stark in den Hintergrund tretenden, ein Y enthaltenden Zellpopulation die naheliegendste Hypothese zu sein.Eine Zwillingsschwester kam im Neugeborenenalter ad exitum; die Blutgruppenuntersuchungen beim Patienten und seiner Familie machen aber einen Blutchimärismus sehr unwahrscheinlich.Das klinische Bild unseres Patienten ist vollkommen verschieden von demjenigen, das beim XX/XO-Mosaik üblicherweise beobachtet wird und läßt sich auch vom klassischen Klinefelter-Syndrom deutlich abgrenzen. Es zeigt Ähnlichkeiten mit einigen Fällen von XO/XY-Mosaik.
Direktor: Prof. Chr. Hedinger 相似文献
Summary In a normally intelligent man of 219/12 years the following main physical findings were present: short stature, hypospadias, possibly a rudimentary vagina, hypergonadotropic hypogonadism, small testis (7 ml) with tubular dystrophy consisting in absence of germinal epithelium and localized proliferation of Leydig's cells. Sex chromatin in buccal mucosa cells was negative; no drumsticks were found in neutrophils. The karyotype in lymphocyte cultures and bone-marrow preparations was 46,XX; in several independent fibroblast cultures 45,XO.The most likely explanation for the presence of testicular tissue seems to be the existence of an undiscovered cell population containing a Y-chromosome.A twin sister of the patient died in early infancy; blood group investigations gave no indications for the presence of blood chimerism.The clinical picture of this patient is entirely different from that of the usual XX/XO mosaics, it also clearly differs from Klinefelter's syndrome but shows some similarities to cases of XO/XY mosaicism.
Direktor: Prof. Chr. Hedinger 相似文献
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54.
Quantum Requirement for Photosynthesis in Chlorophyll-Deficient Plants with Unusual Lamellar Structures 总被引:1,自引:0,他引:1
Neither an over-all deficiency of chlorophyll, nor an increased enzymatic capacity for maximal rates, nor an unusual lamellar structure was found to change the number of quanta required for the evolution of one molecule of oxygen in healthy aurea mutants of tobacco. The average minimal quantum number remains 10 (efficiency 0.1) as in many algae and typical higher plants. Most of the time the optimal efficiency depends on the availability of some far-red radiation, particularly in the blue region of the spectrum where blue light alone is rather inefficient. These results fit an explanation offered earlier in connection with the hydrogen or acetate photometabolism of algae in far-red light. 相似文献
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56.
Andreas Schmid Gerhard Burckhardt Heinz Gögelein 《The Journal of membrane biology》1989,111(3):265-275
Summary Endocytotic vesicles from rat kidney cortex, isolated by differential centrifugation and enriched on a Percoll gradient, contain both an electrogenic H+ translocation system and a conductive chloride pathway. Using the dehydration/rehydration method, we fused vesicles of enriched endosomal vesicle preparations and thereby made them accessible to the patch-clamp technique. In the fused vesicles, we observed Cl– channels with a single-channel conductance of 73±2 pS in symmetrical 140mm KCl solution (n=25). The current-voltage relationship was linear in the range of –60 to +80 mV, but channel kinetic properties dependended on the clamp potential. At positive potentials, two sublevels of conductance were discernible and the mean open time of the channel was 10–15 msec. At negative voltages, only one substate could be resolved and the mean open time decreased to 2–6 msec. Clamp voltages more negative than –50 mV caused reversible channel inactivation. The channel was selective for anions over cations. Ion substitution experiments revealed an anion permeability sequence of Cl–=Br–=I–>SO
4
2–
F–. Gluconate, methanesulfonate and cyclamate were impermeable. The anion channel blockers 4,4-diisothiocyanatostilbene-2,2-disulfonic acid (DIDS, 1.0mm) and 5-nitro-2-(3-phenylpropylamino)-benzoic acid (NPPB, 0.1mm) totally inhibited channel activity. Comparisons with data obtained from radiolabeled Cl–-flux measurements and studies on the H+ pump activity in endocytotic vesicle suspensions suggest that the channel described here is involved in maintenance of electroneutrality during ATP-driven H+ uptake into the endosomes. 相似文献
57.
Anna-Maria M. Schmid 《Plant Systematics and Evolution》1989,164(1-4):239-252
The ultrastructure of the diatomSynedra cf.ulna was examined paying special attention to the Plattenband (platelet band). This structure was first described byGeitler in 1948 on the basis of LM observations and denotes a linear array of dictyosomes along the apical axis of the cell. The present investigation confirmsGeitler's observations in all essential details and demonstrates that the dictyosomes are arranged along polarized nuclear extensions running towards the cell poles. Laterally the extensions are accompanied by a number of microtubules. In large cells the total length of the nucleus thus may reach 400 µm and more. Since only the central part of the nucleus is DNA-positive with DAPI and acridine orange, the nuclear nature of the backbone of the Plattenband cannot be recognized by LM techniques. TEM investigation of serial apical and transapical sections, however, prove unambiguously the identity with extended parts of the nucleus.Dedicated to Prof. DrLothar Geitler on the occasion of his 90th birthday. 相似文献
58.
Reconstitution experiments were performed on lipid bilayer membranes in the presence of detergent solubilized mitochondrial membranes of pea seedlings (Pisum sativum). The addition of the detergent-solubilized material to the membranes resulted in a strong increase of the membrane conductance. To identify the proteins responsible for membrane activity the detergent extracts were applied to a hydroxyapatite (HTP) column and the fractions were tested for channel formation. The eluate of the column contained a protein which migrated as a single band with an apparent molecular mass of 30 kDa on SDS-PAGE. This channel was identified as the porin of pea mitochondria since it formed voltage-dependent channels with single-channel conductances of 1.5 and 3.7 nS in 1 M KCl and an estimated effective diameter of about 1.7 nm. Further elution of the column with KCl containing solutions yielded fractions which resulted in the formation of transient channels in lipid bilayer membranes. These channels had a single-channel conductance of 2.2 nS in 1 M KCl and had also the characteristics of general diffusion pores with an estimated effective diameter of 1.2 nm. Zero-current membrane potential measurements suggested that pea porin was anion-selective in the open state. The selectivity of the second channel was investigated by the measurement of the reversal potential. It was also slightly anion-selective. Its possible role in the metabolism of mitochondria is discussed. 相似文献
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60.
H. Sztajer W. Wang H. Lünsdorf A. Stocker R. D. Schmid 《Applied microbiology and biotechnology》1996,45(5):600-606
Geotrichum candidum was found to produce a lactate oxidase. The enzyme was purified by gel filtration and ion-exchange chromatography. The purified
lactate oxidase showed a molecular mass of 50 kDa under denaturing and about 400 kDa under non-denaturing conditions. Transmission
electron micro-scopy analysis confirmed an octameric structure. FMN was found to be a cofactor for this enzyme. Polarographic
studies confirmed an oxygen uptake by the lactate oxidase. The enzyme showed specificity towards the L isomer of lactate and
did not oxidise pyruvate, fumarate, succinate, maleate and ascorbate. It was stable at alkaline pH and also for 15 min at
45°C. The addition of glycerol and dextran 500 000 to the enzyme sample enhanced storage stability.
Received: 28 September 1995/Received revision: 10 January 1996/Accepted: 15 January 1996 相似文献