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  • 1
    Electronic Resource
    Electronic Resource
    Mosaicism in Turner's syndrome (1997)
    [s.l.] : Macmillan Magazines Ltd.
    Nature 390 (1997), S. 569-569 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Skuse et al. report that females with Turner's syndrome who have retained the paternal X chromosome (Xp) tend to achieve better cognition and social adjustment scores than those with the maternal X (Xm). As sex-chromosome mosaicism is frequent in Turner's syndrome, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/37514
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  • 2
    Electronic Resource
    Electronic Resource
    Der DNA-Chip – Schlüsseltechnologie für ethisch problematische neue Formen genetischen Screenings? (1998)
    Springer
    Ethik in der Medizin 10 (1998), S. 128-137 
    Details
    ISSN: 1437-1618
    Keywords: Key words: Genetics ; Population screening ; DNA chip ; Preventive medicine ; Eugenics ; Schlüsselwörter: Genetik ; Populationsscreening ; DNA-Chip ; Präventivmedizin ; Eugenik
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Philosophy
    Description / Table of Contents: Zusammenfassung. Durch die Entwicklung der molekulargenetischen Diagnostik ist in den vergangenen Jahren nicht nur der individuelle Nachweis zahlreicher genetisch bedingter Krankheiten und Krankheitsdispositionen möglich geworden, sondern darüber hinaus auch die Feststellung der verdeckten Anlageträgerschaft gesunder Probanden für rezessive Erbleiden. Die sich hieraus ergebende, unter ethischen Aspekten umstrittene Möglichkeit eines genetischen Populationsscreenings war bislang methodenbedingt auf wenige, meist seltene Leiden beschränkt. Die neue Technologie des „DNA-Chips“ eröffnet durch die Synthese von Computertechnologie und Molekulargenetik die technische Möglichkeit des Massenscreenings auf eine große Zahl, wie immer definierter, genetischer Defektanlagen für Erbleiden, aber auch genetisch mitbedingte Volkskrankheiten. Damit stellt der DNA-Chip das Handwerkszeug sowohl für eine verbesserte Präventivmedizin als auch für neue Formen von genetischer Diskriminierung bis hin zur Eugenik dar. Es müssen daher dringend ethische Normen und rechtliche Rahmenbedingungen für den unmittelbar bevorstehenden Einsatz des DNA-Chips in der medizinischen Diagnostik erarbeitet werden.
    Notes: Abstract. Definition of the problem: The development of molecular genetics has provided tools not only for the diagnosis of genetic diseases and disease dispositions in affected individuals, but also for the detection of healthy carriers of recessive hereditary traits. The resulting, ethically controversial option of genetic population screening used to be restricted to a small number of rather rare diseases by methodological limitations which are now about to be overcome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004810050027
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  • 3
    Electronic Resource
    Electronic Resource
    Search for putative suppressor genes in meningioma: significance of chromosome 22 (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 579-582 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cytogenetic and molecular studies of various solid tumors have indicated that a series of different chromosomal regions may be deleted in the tumor genome. Usually, losses of heterozygosity are observed and, from this finding, the presence of specific genes acting as tumor suppressors has been deduced. In particular tumors, however, only a single chromosome site appears to be affected. Therefore, we have carried out a study of human meningioma, investigating 7 such putative suppressor regions by applying twelve site-specific DNA markers. In 6 out of 19 tumors, we exclusively found loss of heterozygosity for markers of the long arm of chromosome 22; none of the tumors showed statistically significant additional allelic losses for the regions 1p, 3p, 5p, 5q, 11p, 13q, 17p. Our data support the long-standing observation that only losses of or within chromosome 22 are associated with the development of meningiomas. Other suppressor regions are apparently not involved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219348
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  • 4
    Electronic Resource
    Electronic Resource
    Immunophenotyping of mitotic cells from long-term cultures of chorionic villi (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 317-320 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Chromosomal mosaicism in chorionic villus samples (CVS) may arise from different sources, such as clonal diversity within the chorionic tissue or contamination with maternal cells. To determine the origin of karyotyped cells, we compared the immunocytochemical features of mitotic cells in CVS long-term cultures with histological sections of their tissue of origin, i.e. chorionic villi. Immunolabelling of intermediate filaments specific for epithelial cells (cytokeratin) and mesenchymal cells (vimentin) established that mitoses yielded from CVS long-term cultures indeed stem from independently growing clones derived from both the epithelial and mesenchymal parts of the chorionic villi. Thus, mosaicism in CVS cultures may reflect true genetic heterogeneity within the biopsy. However, epithelial chorionic cells undergo in vitro metaplasia leading to co-expression of cytokeratins and vimentin. Fetal-specific immune markers (β-HCG and SP1-glycoprotein) are not reliably expressed in CVS cell culture.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00217349
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  • 5
    Electronic Resource
    Electronic Resource
    Proliferation enhancement by spontaneous multiplication of chromosome 7 in rheumatic synovial cells in vitro (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 651-654 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mosaic trisomy of chromosome 7 is known to occur in a variety of non-neoplastic hyperproliferative disorders. In long-term cell cultures established from rheumatic synovium with mosaic trisomy 7, we observed a continuous increase in the proportion of cells with trisomy 7 to over 50% by the 10th in vitro passage. Simultaneous in situ hybridization with a repetitive chromosome-7-specific DNA probe and fluorescent Ki-67 labelling showed a strong correlation between trisomy 7 and an elevated proliferation index in cultured rheumatic synovial cells. Moreover, we observed a fraction of rapidly proliferating cells with up to eight copies of chromosome 7 as the sole cytogenetic change. Frequent somatic pairing of centromeres of two chromosomes 7 in interphase nuclei suggests either atypical non-disjunction with a persisting centromere or selective endoreduplication of chromosome 7.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210293
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  • 6
    Electronic Resource
    Electronic Resource
    A novel site of DNA amplification on chromosome 1p32-33 in a rhabdomyosarcoma revealed by comparative genomic hybridization (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 87-90 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cytogenetic analysis of a human embryonal rhabdomyosarcoma revealed a near-diploid karyotype with structural chromosome aberrations not involving the typical rearrangements of rhabdomyosarcomas, plus a large number of double minutes. Comparative genomic hybridization revealed a previously undescribed site of DNA amplification on the short arm of chromosome 1 (band 1p32-33).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00218839
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  • 7
    Electronic Resource
    Electronic Resource
    In situ chromosome preparation technique for simultaneous cytogenetic and immunocytochemical studies on cell cultures of solid tumors (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 551-554 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Immunophenotyping of cultured cancer cells requires intact antigenic structures; these are mostly destroyed by conventional chromosome preparation techniques. Thus, the simultaneous cytogenetic and immunocytochemical characterization of solid tumor cells appears unfeasible. Here, we describe a novel method that allows in situ chromosome preparation from monolayer cultures of solid tumor cells without affecting their immunological features. Using this technique, it is possible to achieve detailed cytogenetic data including chromosome banding together with the demonstration of cytoplasmic and nuclear antigens within the same tumor cell.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194236
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  • 8
    Electronic Resource
    Electronic Resource
    Fluorescence In-situ Hybridization and Immunophenotyping on Smear Preparations of Collagenase-disaggregated Fibrous Solid Tissues (1999)
    Springer
    Chromosome research 7 (1999), S. 663-665 
    Details
    ISSN: 1573-6849
    Keywords: FISH ; immunophenotyping ; smear preparations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009244304830
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  • 9
    Electronic Resource
    Electronic Resource
    Nuclear and DNA-binding proteins in human brain tumors (1991)
    Weinheim : Wiley-Blackwell
    Electrophoresis 12 (1991), S. 515-523 
    Details
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Nuclear proteins obtained from human brain tumor cell lines by differential salt extraction were subjected to high-resolution two-dimensional electrophoresis. Several hundred spots were detectable in the low salt (0.4 M NaCl) extract using silver staining. These patterns exhibited remarkable differences between the different cell lines we analyzed. A less complex pattern occured when nuclei were subsequently treated with high salt (2.5 M NaCl/5 M urea). We compared the electropherograms from various human glioblastoma cell lines and found them very, similar and even a high degree of similarity occurs between glioblastomas and other human tumor cell lines. Beside these more general observations we detected several proteins at least enriched in human glioblastomas which were, totally absent in low grade astrocytomas and nonglial tumors. They could be separated from the bulk of nonspecific proteins by simple modifications of the isoelectric focusing conditions. From these results we conclude that nuclear proteins obtained by sequential salt extraction and separated by two-dimensional techniques may provide tumor specific proteins suitable for antibody production.
    Additional Material: 7 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150120710
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