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Partial 1p monosomy in a physically and mentally retarded boy 总被引:1,自引:0,他引:1
An 8-year-old boy is reported with marked mental and physical retardation, microcephaly, hypertelorism, mongoloid palpebral fissures, hypoplasia of the maxillary portion of the face, and other discrete anomalies. Deletion of the distal portion of the short arm of the chromosome 1 and the karyotype 46,XY, del(1)(p33----pter) was detected. 相似文献
3.
Wolfgang Witt Peter Hampel Klaus Böcker Angelika Mertsching 《Archives of microbiology》1989,151(2):154-158
Divalent cations activate the lysophospholipase and transacylase reactions catalyzed by the same enzymes in the yeast Saccharomyces cerevisiae. The activation was observed at neutral pH, but not at the pH optimum of lysophospholipase/transacylase, near 3.5. Adenine nucleotides, especially AMP and ADP, are strong inhibitors of the same group of enzymes. Half maximal inhibition by AMP was found at a concentration of about 20 M. The inhibition by nucleotides in low concentrations is enhanced by divalent cations. 相似文献
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The highest number of viable.elements ofPaecilomyces variotii, forming colonies after a 1-year maintenance, was detected in frozen sample. Decreased viability of the frozen culture and culture maintained in distilled water was usually statistically significant after 1 year and decreased further with increasing age of the culture used for sample preparation. Freeze-drying also significantly decreased the strain viability, depending on culture age. In the freeze-dried culture stored in a refrigerator the relative number of viable elements was substantially higher than after storage at room temperature. After a 3-year storage of freeze-dried P.variotii in a refrigerator 14-44% of culture elements survived, as compared with the number detected immediately after freeze-drying. 相似文献
6.
J Paukert I Obrusník 《Journal of hygiene, epidemiology, microbiology, and immunology》1986,30(1):27-32
We made the INAA of hair of the common hare (Lepus europaeus Pall.) and of the common vole (Microtus arvalis Pall.) living in the emission zones. Both the hare and the vole are almost exclusively herbivores; they consume relatively large amounts of contaminated food and mirror reliably the contamination degree of the respective ecosystem. The use of free-living animals for the control of the environmental quality may complete effectively the information obtained by examination of habitants. Though the free-living animals lead a rather different way of existence it has been found that the analyses of their hair correlate very well with the analyses of human hair. It may be expected that the changes of concentrations of heavy metals will manifest themselves earlier in animals than in men, because the animals are strictly tied to the local food sources. The hair samples of hares contained increased concentrations of Sm, La, Au, As, Se, Cr, Sc, Fe, Ce, Th and Co. The hair of voles showed increased concentrations of Sm, La, Zn, As, Se, Cr, Sc, Fe, Sb, Ce, Cs and Co. A conspicuous trend towards the cumulation in hair was observed in the following elements: As, Se, Sc and Fe. The increase of their concentrations in the hair of animals from the emission regions amounted as such as to 10(3)%. 相似文献
7.
Z Hubálek V Cerny T Mittermayer J Kilík J Halouzka Z Juricová I Kuhn V Bárdos 《Journal of hygiene, epidemiology, microbiology, and immunology》1986,30(1):87-98
The serosurveys conducted in the Silica plateau area of the Slovak karst region revealed the presence of specific neutralizing antibody against tick-borne encephalitis (TBE) virus in 18% of local inhabitants (33 examined, mostly goats and sheep farmers), 54% of goats (26 examined), 18% of sheep (120 examined) and 13% of cattle (60 examined), against Lipovník (LIP) virus in 30% of inhabitants, 88% of goats, 55% of sheep and 45% of cattle, and against Bhanja (BHA) virus in 27% of inhabitants, 46% of goats, 29% of sheep and 23% of cattle. The results of hemagglutination-inhibition tests with TBE and BHA antigens were analogous. A detailed analysis of these serologic data points to a recent enhancement of the circulation of LIP and BHA viruses and to a very low TBE virus activity in this natural focus of arboviral infections. The immunological surveys of the 32 former "Roznava disease" patients, conducted 25 years after an extensive epidemic of a TBE virus infection that originated in Roznava in 1951, revealed the presence of neutralizing (and also hemagglutination-inhibiting) antibodies against TBE virus in as many as 78% of cases. Antibodies against LIP and BHA viruses were also detectable in the sera of 16% and 9%, respectively, of these individuals. Populations of the ectoparasites examined for the presence of arbovirus comprised 231 Ixodes ricinus, 806 Dermacentor marginatus and 204 Haemaphysalis punctata ticks and 117 specimens of the louse-flies Melophagus ovinus. Two strains of arbivirus that were antigenically related to Lipovník and Tribec viruses belonging to a group of Kemerovo viruses were isolated from male and female I. ricinus ticks collected from cattle. 相似文献
8.
A single X-chromosome balancer-bearingCelegans ♂+, as a founder of a strain (AF1), was isolated directly from Fl progeny of irradiated+dpy-8unc-3/lon-2++ hermaphrodites on the basis of the absence of recombinant F2 categories. The balancer chromosome (Bal-X-1) suppresses recombination over a two-thirds section of the X chromosome (between genesdpy-8 andlet-2) and is associated with a reciprocal translocation between linkage groups (LG) X and I. Animals homozygous for the translocation (szT1(X:1)) are nonviable. Hermaphrodites heterozygous for the translocation segregate male selfprogeny at a frequency of 0.08-0.12.Bal-X-l carries the marker mutationlon-2(e678) and can be detected cytologically. This balancer chromosome proved useful for rnaimaininga number of X-linked lethal mutations and deficiencies inC. elegans. 相似文献
9.
G. Ditzelmüller E. M. Kubicek-Pranz M. Röhr C. P. Kubicek 《Applied microbiology and biotechnology》1985,22(4):297-299
Summary
Pachysolen tannophilus contains — in addition to an NADPH-linked xylose reductase — a separate NADH-linked one, in this respect differing from the yeast Pichia stipitis. Both enzyme proteins can conveniently be separated from each other by either ion exchange chromatography or chromatofocusing. 相似文献
10.