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51.
Jos C. F. M. Dreesen Joep P. M. Geraedts John C. M. Dumoulin Johannes L. H. Evers Math H. E. C. Pieters 《Human genetics》1995,96(3):323-329
In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymerase chain reaction (PCR) procedure. Unfertilized oocytes and extruded polar bodies were subjected to PCR. RS46(DXS548) genotyping at the single cell level was successful in 95% of the samples. In two-third of the metaphase II oocytes and first polar bodies obtained from women who were heterozygous at the RS46(DXS548) locus, both maternal RS46(DXS548) alleles were observed because of crossing over during the first meiotic division. This makes gamete selection by first polar body analysis inefficient. From the allele frequencies found in 56 unrelated individuals, a heterozygote frequency of 51% was estimated, whereas the observed heterozygote frequency was 56%. The whole PCR procedure can be performed within 16 h after blastomere biopsy. Consequently, the selection and transfer of the diagnosed embryos can be carried out within an acceptable time. Therefore, preimplantation testing for the fragile-X syndrome with the RS46(DXS548) AC-repeat may be an alternative choice for prenatal testing for those carrier females who are heterozygous (informative) at the RS46(DXS548) locus. 相似文献
52.
Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q
Miguel Viribay Dolores Tellería Eladio Velasco Felipe Moreno José L. San Millán 《Human genetics》1995,95(5):601-602
A new polymorphic CA repeat sequence was identified within the candidate region fot the autosomal dominant polycystic kidney disease type 2 (PKD2) locus. It should be a useful marker in the localization of this gene. 相似文献
53.
José Moreno Herminia Rodríguez M. Angeles Vargas Joaquín Rivas Miguel G. Guerrero 《Journal of applied phycology》1995,7(1):17-23
Ten strains of filamentous, heterocystous nitrogen-fixing blue-green algae (cyanobacteria) were screened for growth performance
and tolerance to temperature, pH, irradiance and salinity, together with their potential as producers of phycobiliprotein
pigments. Phycobiliproteins typically accounted for about 50% total cell protein, the prevalent type being C-phycocyanin,
followed by alloppycocyanin, with levels of 17 and 11% d.wt, respectively, in some strains of Anabaena and Nostoc. C-phycoerythrin was the major pigment in several Nostoc strains, reaching 10% d.wt. Some strains represent, therefore, excellent sources of one or more phycobiliproteins. All strains
tolerated an irradiance of ca 2000 μmol photon m-2 s-1. Anabaena sp. ATCC 33047 and Nostoc sp. (Albufera) exhibited the widest optimum range of both temperature (30–45 and 25–40 °C) and pH (6.5–9.5 and 6.0–9.0) for
growth, the former also showing significant salt tolerance. In an outdoor open system, productivity of cultures of two phycoerythrin-rich
strains of Nostoc was over 20 g (d.wt) m-2 d-1 during summer. The growth performance of the allophycocyanin-rich Anabaena sp. ATCC 33047 in outdoor semi-continuous culture has been assessed throughout the year. Productivity values under optimized
conditions ranged from 9 (winter) to 24 (summer) g (d.wt) m-2 d-1. 相似文献
54.
Bacillus thuringiensis var. israelensis (BTI), serotype 14, which produces parasporal crystals toxic to certain dipteran larvae, was analyzed by agarose gel electrophoresis and found to contain a complex plasmid array. Eight plasmids were detected, with approximate sizes of 3.3, 4.2, 4.9, 10.6, 68, 75, 105, and 135 MDa, as well as a plasmidlike linear DNA element of ~10 MDa. Partially cured mutants of BTI implicated the 75-MDa plasmid in crystal production. Fifteen independently isolated acrystalliferous (Cry?) mutants were found to lack this plasmid. In plasmid transfer experiments, several of the BTI plasmids transferred into a plasmid-free, Cry? BTI recipient, but only transfer of the 75-MDa plasmid converted the recipient to crystal toxin production. The presence or absence of mosquito-toxic activity in all Cry+ and Cry? variants of BTI was confirmed by bioassay of sporulated cultures against larvae of Aedes aegypti. Southern blot analyses revealed that in one unusual Cry+ variant in which no 75-MDa plasmid band was detectable, plasmid sequences were still present, possibly integrated into the chromosome. The 75-MDa plasmid could also apparently recombine with the 68-MDa plasmid, to which it was partially homologous. 相似文献
55.
Gene frequencies at 13 isozyme loci were determined in three South American taxa of cultivated potatoes [the diploid group (gp.) Stenotomum, the diploid subgroups (subgp.) Goniocalyx, and the tetraploid gp. Andigena ofS. tuberosum], in the diploid weed speciesS. sparsipilum, and in most of the main cultivars now raised in the Northern Hemisphere (the tetraploid gp. Tuberosum ofS. tuberosum). High levels of genetic variability (mean number of alleles per locus, percentage of polymorphic loci, and mean heterozygosity) were detected, being higher in tetraploid potatoes. An equilibrium among the evolutionary factors which increase genetic variability and artificial selection for maximum yield would explain the high uniformity of heterozygosity values we observed in both Andigena (0.36 ± 0.02) and Tuberosum (0.38 ± 0.01) cultivars.—The low value of genetic distance (D = 0.044) between Stenotomum and Goniocalyx does not support the status of species forS. goniocalyx.—In most isozyme loci, the electromorphs of gp. Andigena were a combination of those found in both gp. Stenotomum andS. sparsipilum, suggesting an amphidiploid origin of gp. Andigena from that two diploid taxa. The presence in Andigena of unique electromorphs, which were lacking in both gp. Stenotomum andS. sparsipilum, suggests that other diploid species could be also implied in the origin of tetraploid Andean potatoes. Furthermore, since Andigena were more related to Stenotomum (D = 0.052) than toS. sparsipilum (D = 0.241), the autopolyploidization of Stenotomum individuals and the subsequent hybridization with gp. Andigena may also have occurred. Thus, our study suggests a multiple origin (amphidiploidy, autoploidy, and hybridization at tetraploid level) of gp. Andigena.—Most of the electromorphs of gp. Tuberosum were also found in gp. Andigena; both the direct derivation of that group from the Andean tetraploid potatoes and the repeated introgression provided by breeding programmes could explain this result. However, the allele c of Pgm-B, present in 30 out of 76 Tuberosum cultivars from Northern Hemisphere as well as in 3 Chilean Tuberosum cultivars, lacks in the 258 Andigena genotypes sampled, suggesting that Chilean germplasm could have taken part in the origin of at least the 39% of the potato cultivars from Europe and North America analyzed here.—The distanceWagner procedure provides an estimate of a 30% of heterogeneity in the evolutionary divergence shown by different groups of cultivated potatoes. Diploid groups show a higher (22.5%) evolutionary rate than tetraploids, which can be attributed to both tetrasomic inheritance and facultative autofecundation that exists in Andigena and Tuberosum groups. Thus, artificial selection acting since 10000 years has not resulted in a higher rate of molecular evolution at the isozyme level in the tetraploids. 相似文献
56.
J. del Mazo J. A. Abrisqueta Amalia Pérez-Castillo V. Aller M. Angeles Martín Lucas M. Luisa de Torres M. José Martín 《Human genetics》1978,44(1):105-108
Summary A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16q35) was determined. The characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome, are compared with previous reports. 相似文献
57.
A NMR and magnetic susceptibility study of the oxidized and reduced states of three different oligomers (forms) of a [4Fe-4S] ferredoxin protein from Desulphovibrio gigas, FdI, FdI′, and FdII was carried out. FdI and FdI′ are different trimers and FdII a tetramer of the same basic subunit. A probable assignment of the contact shifted resonances is indicated. Since the temperature dependences of the contact shifted resonances associated with each [4Fe-4S] are not all similar a delocalized model for the spin densities on the 4Fe does not apply. The exchange rate between oxidized and reduced states is slow on the NMR time scale. The three oligomers are not magnetically equivalent. Using the “three state hypothesis” terminology it is shown that FdIox is predominantly in the C2? state and changes upon reduction into the C3? state, while FdIIox is in the C? state and changes into the C2? state. FdI′ does not easily fit into this classification. This study shows a similarity of magnetic behaviour between FdI and bacterial ferredoxins (e.g. Bacillus polymyxa) and between FdII and HiPIP from Chromatium sp.. The influence of the quaternary structure on the stabilization of the different oxidation states of ferredoxins as well as on their redox potentials is discussed. 相似文献
58.
59.
Javier Turnay Nieves Olmo José G. Gavilanes María A. Lizarbe 《In vitro cellular & developmental biology. Animal》1991,27(6):447-452
Summary Fibroblastlike primary cells have been obtained from human colon adenocarcinoma explants. Such cells disappear during cell
culture and thus have not been previously studied. These cells have a number of altered phenotypic characteristics: a) morphology;
b) growth behavior and adherence to culture substrate (they required 3 h for 90% attachment and only presented a flattened
morphology 40 h after platting); and c) collagen metabolism. Increased protein biosynthesis (about double than control colon-derived
fibroblasts) and maintained ability for collagen biosynthesis have been observed for the tumor-associated fibroblastlike cells.
Thus, the collagen to noncollagenous proteins ratio was decreased for these cells. They exhibited an altered type I:type III
collagen (5:1 instead of 3:1 in colon fibroblasts) and procollagen (2:1 against 5:1 in colon fibroblasts) ratios as well as
a decreased secretion of collagen with an abnormal deposition of procollagens in the cell layer. These studies show a permanent
phenotypic alteration in the tumor-associated fibroblastlike cells. 相似文献
60.
Gerard J. Niemann Jos B. M. Pureveen Gert B. Eijkel Hendrik Poorter Jaap J. Boon 《Oecologia》1992,89(4):567-573
Summary Eleven grass species varying in potential relative growth rate (RGR) were investigated for differences in chemical composition by pyrolysis mass spectrometry. The spectral data revealed correlations between RGR and the relative composition of several biopolymers. Species with a low potential RGR contained relatively more cell wall material such as lignin, hemicellulose, cellulose, polysaccharide-bound ferulic acid and hydroxyproline-rich protein, whereas species with a high potential RGR showed relatively more cytoplasmic elements such as protein (other than those incorporated in cell walls) and sterols. 相似文献