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21.
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France 总被引:20,自引:10,他引:10 下载免费PDF全文
Franoise Rey Monique Berthelon Catherine Caillaud Stanislas Lyonnet Vronique Abadie Flicienne Blandin-Savoja Josu Feingold Jean-Marie Saudubray Jean Frzal Arnold Munnich Jean Rey 《American journal of human genetics》1988,43(6):914-921
RFLPs of 68 normal and 74 mutant alleles at the phenylalanine hydroxylase (PAH) locus were determined in 37 French kindreds. A total of 23 haplotypes, including 18 normal and 16 mutant alleles, were observed. Two-thirds of all mutant alleles were confined within only four haplotypes, while the last third was accounted for by 12 haplotypes, including eight haplotypes absent from Caucasian pedigrees reported thus far. Several mutant haplotypes were present in typical phenylketonuria only, others were present in variants only, and some were present in both. In addition, a particular mutant haplotype (haplotype 2) was found to harbor different mutations in our series, resulting in either typical phenylketonuria or in mild hyperphenylalaninemias. The diploid combination of so many mutant haplotypes in PAH-deficient patients and of compound heterozygosity at the PAH locus in southern Europe might account for the broad spectrum of individual phenotypes observed in France. 相似文献
22.
Monique Breton Eliane Berrou M. -Christine Brahimi-Horn Elisabeth Deudon Jacques Picard 《Experimental cell research》1986,166(2)
Cultured smooth muscle cells from pig aorta arrested in G0 phase by serum deprivation were stimulated to proliferate by replacing the medium with one containing 10% serum. Studies in DNA replication and proliferation of cells showed a relatively good synchrony: 90% of the cells were in G1 phase for 16 h after addition of serum; they entered S phase between 18 and 24 h, completed S phase and traversed G2 phase between 24 and 30–32 h; 75% of these cells multiplied after 30–32 h and the remainder were blocked at the end of G2 phase. The synthesis and secretion of sulfated proteoglycans were examined throughout a full cell cycle using metabolic labelling with [35S]sulfate. Smooth muscle cells in G1 or G2 phase synthesized and secreted sulfated proteoglycans with a possible pause at the end of the G2 phase but at the beginning of the S phase and during mitosis the incorporation of [35S]sulfate into these macromolecules stopped entirely. Structural characteristics of sulfated proteoglycans secreted into the medium during G1 phase and an entire cell cycle were investigated. The proportion of proteoglycan complexes and the relative hydrodynamic size of monomers and of constituent subunits of complexes were determined after chromatography on Sepharose CL-2B and CL-6B columns run under both associative and dissociative conditions. No significant differences were observed for the periods of the cell cycle that were studied:
- 1. 1. [35S]Proteoglycan complexes represented at the end of G1 phase and of the cell cycle respectively 19 and 16% of the total [35S]proteoglycans secreted into the medium.
- 2. 2. More than 90% of the subunits, obtained after dissociation of complexes, were characterized by a similar kav after chromatography on Sepharose CL-2B columns eluted under dissociative conditions (kav 0.68 at the end of G1 phase and 0.65 at the end of full cell cycle).
- 3. 3. About 95% of monomers synthesized at the two stages of the cell cycle were eluted at kav 0.25 after chromatography on Sepharose CL-6B column run under associative conditions and were characterized by a similar glycosaminoglycan distribution. These results suggest that smooth muscle cells in culture liberate similar populations of proteoglycans into the medium during the G1 and G2 phases.
23.
Improved Agar Bottle Plate for Isolation of Methanogens or Other Anaerobes in a Defined Gas Atmosphere 总被引:7,自引:4,他引:3 下载免费PDF全文
A bottle plate for the cultivation of methanogens or other organisms in a defined pressurized-gas atmosphere was developed. The bottle provides the convenience of an agar streak plate, solves the problem of the water exudate from agar medium, and provides a convenient way of adding or sampling a defined gas atmosphere. 相似文献
24.
E. Messens A. Lenaerts M. Van Montagu R. W. Hedges 《Molecular & general genetics : MGG》1985,199(2):344-348
Summary Plant cells neoplastically transformed by insertion of T-DNA from Ti plasmids of agrobacteria produce and secrete opines. Secretion of two of these opines (octopine and nopaline) is shown to require the expression of a single gene, which we designate ons.Dedicated to Professor Georg Melchers to celebrate his 50-year association with the journal 相似文献
25.
Ann Depicker Lieve Herman Anni Jacobs Jozef Schell Marc Van Montagu 《Molecular & general genetics : MGG》1985,201(3):477-484
Summary We investigated whether the efficiency of transformation of plant cells by Agrobacterium tumefaciens during cocultivation is limited by the properties of the plant cells or by the infecting bacteria.Therefore, tobacco protoplasts were infected by cocultivation with two different agrobacteria strains carrying Ti plasmids with distinguishable T-DNAs. These T-DNAs cotransform plant cells at a frequency equal to the product of their independent transformation frequencies, which indicates that all plant cells are equally competent. On the other hand, when these T-DNAs are located on the same Ti plasmid vector within one bacterial strain, the cotransformation frequency is significantly higher than the product of the single transformation frequencies. We interpret these results to indicate that transformation is limited more by the establishment of effective bacteria/plant cell interaction than by (i) the process of DNA integration and (ii) by the number of plant cells capable of being transformed by Agrobacterium. We found that most plant cells are transformed by only one or a few agrobacteria. Analysis of the number of T-DNA copies in these clonally transformed lines indicates amplification of the original, infecting T-region copy. 相似文献
26.
Summary Red blood cell esterase D (ESD) polymorphism was studied in a French-Canadian population from Quebec city, Canada, by means of high voltage electrophoresis on agarose gel followed, in heterozygotes for ESD1, by IEF to reveal the possible allele ESD*5. Frequencies of the ESD alleles in 904 unrelated individuals were ESD*1: 0.888, EDS*2: 0.095 and ESD*5: 0.017. The segregation pattern observed in 275 families confirmed a Mendelian inheritance of three autosomal alleles. 相似文献
27.
Mavis Hendson Lizzie Askjaer Jennifer A. Thomson Marc van Montagu 《Applied microbiology》1983,45(5):1526-1532
Eighteen strains of Agrobacterium tumefaciens isolated from crown galls were tested for agrocin production. Of six agrocin-producing strains, one (D286) produced a broad-host-range agrocin active against strains carrying nopaline, octopine, and agropine type Ti plasmids. Sensitivity to agrocin D286 was found to map in the 11- to 18-megadalton region of the nopaline Ti plasmid pTiC58. The agrocin was partially purified, and its physical characteristics were consistent with its being a nucleotide, as is agrocin 84. Agrocin D286 was shown to inhibit DNA, RNA, and protein syntheses. Strain D286 spontaneously lost its pathogenicity, and its potential for use in the biological control of crown gall is discussed. 相似文献
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30.
Brain Cell Biology - The effects of a prolonged blockade of nerve conduction by tetrodotoxin on frog motor innervation were studied in the cutaneous pectoris muscle ofRana esculenta. Prolonged... 相似文献