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  • 1
    Electronic Resource
    Electronic Resource
    Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 159-161 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been excluded from the more telomeric D21S1/S11 region, but not from the centromeric region of chromosome 21. We identified two new restriction fragment length polymorphisms (RFLPs) for the locus D21S13 and have used these RFLPs for the analysis of one of the largest known early-onset FAD pedigrees. We calculated pairwise and multipoint lod scores for the loci D21S13, D21S110, and D21S11. Linkage to this region of chromosome 21 was excluded with maximum negative lod scores of -6.4 at D21S13 and D21S110. Thus, it is unlikely that the FAD mutation in this family is located in the region that has shown linkage in other FAD pedigrees. This result provides evidence for genetic heterogeneity of early-onset FAD or a location of FAD centromeric to D21S13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00204173
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  • 2
    Electronic Resource
    Electronic Resource
    Localization of the humanRGR opsin gene to chromosome 10q23 (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 720-722 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The humanRGR gene encodes an opsin protein (retinal G protein-coupled receptor), which is expressed in Müller cells and the retinal pigment epithelium and is thought to play a role in the visual process. To investigate a possible linkage of theRGR gene to retinal dystrophies, the locus of the gene was mapped on human metaphase chromosomes. Genomic and cDNA fragments of the humanRGR gene were used as probes for fluorescence in situ hybridization. Analysis of the fluorescence signals on high-resolution banded chromosomes showed that theRGR gene is localized to human chromosome lOq23. This result now provides for the rapid analysis of this gene with respect to inherited diseases of the retina.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02346179
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  • 3
    Electronic Resource
    Electronic Resource
    A new HaeIII polymorphism at the D21S13 locus (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 671-671 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary DNA markers in the pericentromeric region of human chromosome 21 have shown linkage to a gene for Familial Alzheimer disease (FAD; St. George Hyslop et al. 1987). The limited informativeness of probes for the loci D21S13 and D21S16 have hindered precise mapping of the FAD locus and analysis of non-allelic heterogeneity in FAD (Schellenberg et al. 1988; St. George-Hyslop et al. 1987). We recently described a new EcoRII polymorphism at the D21S13 locus that was very informative in a large FAD pedigree (Pulst et al. 1990a, b). We now report another polymorphism for the D21S13 locus that further increases the informativeness of this locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193597
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  • 4
    Electronic Resource
    Electronic Resource
    The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17 (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 12-14 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence of both NF1 and ACH. Since the chance of de novo occurrence of these two disorders in one individual is 1 in 600 million, this suggested a chromosomal deletion as a single unifying molecular event and also that the ACH and NF1 loci might be physically close. To test this, we performed linkage analysis on a three-generation family with ACH. We used seven DNA probes that are tightly linked to the NF1 locus, including DNA sequences that are known to flank the NF1 locus on the centromeric and telomeric side. We detected two recombinants between the ACH trait and markers flanking the NF1 locus. In one recombinant, the flanking markers themselves were nonrecombinant. Multi-point linkage analysis excluded the ACH locus from a region surrounding the NF1 locus that spans more than 15cM (lod score 〈 -2). Therefore, analysis of this ACH pedigree suggests that the ACH locus is not linked to the NF1 locus on chromosome 17.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00276318
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  • 5
    Electronic Resource
    Electronic Resource
    A new EcoRI polymorphism at the D21S13 locus (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 580-580 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The D21S13 locus has shown linkage to a gene for familial Alzheimer disease (FAD) on chromosome 21 (St. George-Hyslop et al. 1987). The limited informativeness of probes for this locus have hindered precise mapping of the FAD locus and analysis of nonallelic heterogeneity in FAD (Schellenberg et al. 1988; St. George-Hyslop et al. 1987). We describe a new EcoRI polymorphism at the D21S13 locus that may be useful for the further study of FAD families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210815
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  • 6
    Electronic Resource
    Electronic Resource
    Sister chromatid differentiation in 5-bromo-2′-deoxyuridine-substituted chromosomes: A study with DNA-specific ligands and monoclonal antibody to histone H2B (1994)
    Springer
    Chromosome research 2 (1994), S. 428-438 
    Details
    ISSN: 1573-6849
    Keywords: bromodeoxyuridine ; Chinese hamster ; chromatin structure ; human chromosomes ; sister chromatid differentiation ; UV irradiation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Human and Chinese hamster chromosomes were obtained from cells grown in the presence of 5-bromodeoxyuridine (BrdU) for (a) one replicative round, (b) two replicative rounds, (c) one replicative round followed by another round in thymidine and (d) the last period of synthetic phase. Untreated chromosomes and chromosomes treated with UV radiation after previous staining with 33258 Hoechst as photosensitizer were studied in order to investigate the mechanism(s) responsible for BrdU-induced sister chromatid differentiation (SCD). Metaphases were prepared by (1) standard methanol—acetic acid fixative for subsequent investigation with Giemsa or DNA-specific dyes such as ethidium bromide, acridine orange and monoclonal antibodies to double-or single-stranded DNA; (2) the procedure for observation under phase-contrast or electron microscopy; and (3) the cytospin method for subsequent immunoreaction with a monoclonal antibody to histone H2B. Our data exclude the possibility that the presence/absence of BrdU in the template strand might affect chromatin organization and thus resistance, while confirming that UV-induced DNA alteration is not sufficient, by itself, to explain SCD mechanism(s). That molecules other than DNA play a role in explaining SCD production is indicated by the fact that BrdU incorporation induces alterations in DNA—histone H2B interactions which, in turn, seem to produce structural variations in chromatin, possibly at the level of condensation, as monitored by phase-contrast and electron microscopy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01552865
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