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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The association of nephropathy, Wilms' tumour and genital abnormalities is known as Drash syndrome. Two of these features are also seen in the WAGR (Wilms' tumour, aniridia, genito-urinary abnormalities, mental retardation) complex, known to be associated with deletions of chromosome region 11p1S. We have carried out karyotypic and molecular studies in 10 Drash patients, 5 males and 5 females. All the males had a 46XY karyotype as did 3/5 of the phenotypic females, the other two having a 46XX karyotype. One of the 46XX females also had a deletion of region 11p13–p12, the only detectable autosomal chromosome abnormality in any of the patients studied. Lymphoblastoid cell lines were prepared from 6 of the Drash patients and were used in dosage studies using a variety of DNA probes from the 11p13 region. There was no evidence of microdeletions in any patient with a normal karyotype. Because of the 46XY karyotype in phenotypic females, selected X and Y chromosome loci were analysed and all found to be normal. Although Drash syndrome is likely to be of genetic origin, there are no readily detected deletions within the 11p13 region.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Chromosoma 81 (1980), S. 55-64 
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The DNA content of translocated polytene chromosome regions in Drosophila melanogaster is affected by heterochromatic position effect. Microdensitometric studies on w m258-21 translocation heterozygotes showed (Hartmann-Goldstein and Cowell, 1976; Cowell and Hartmann Goldstein, 1980) that band region 3D1-E2, adjacent to the breakpoint, contained less DNA than the homologous non-translocated region whereas the neighbouring 3C1-10 region contained more DNA than its non-translocated counterpart. In the nuclei selected for measurement the translocated X chromosome was morphologically euchromatic, but both regions undergo heterochromatisation in other nuclei within the same salivary gland. To explore the relationship between changes in DNA content and heterochromatisation, the effect on DNA content of two known modifiers of heterochromatisation has now been studied. Larvae cultured at 15° C, which exhibit more heterochromatisation than those grown at 25° C, have the same relative DNA contents as at the higher temperature. The addition of a Y chromosome markedly reduced heterochromatisation; in XXY larvae there was no difference between the DNA contents of translocated and non-translocated 3D1-E2 regions, and in region 3C1-10 the percentage excess of DNA in the translocated homologue was approximately double that found in XX larvae. The relationship between replication behaviour and compaction suggested by these results is discussed.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Genetics 16 (1982), S. 21-59 
    ISSN: 0066-4197
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 298-301 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Esterase-D phenotypes and in vitro activity have been measured in red blood cells from 258 retinoblastoma patients and 73 unaffected relatives. Individuals with the 1-1 and 2-1 phenotypes showed distributions of enzyme activity which were not significantly different from each other. Individuals with the 2-2 phenotype, however, consistently showed a 25–30% lower level of enzyme activity. These results demonstrate the importance of determining the esterase-D phenotype in individuals with low ESD activity who might otherwise be assumed to carry a chromosome deletion at the esterase-D locus. We have also shown that, in vitro, the ESD enzyme is unstable over relatively short periods of time which, if uncontrolled, can give rise to a large variation in measured enzyme levels. The addition of b-mercaptoethanol to the assay buffer, which stabilises the enzyme, results in more consistent values being obtained within the same ESD phenotype. This feature could account in part for much of the variability in enzyme activity observed between different individuals in other studies.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Studies on Feulgen-DNA content in the polytene chromosomes of D. melanogaster T(1∶4)w m258-21 heterozygotes showed that when the euchromatic region 3D1-E2 is located next to the heterochromatic breakpoint it contains less DNA than in the non-translocated homologue (Hartmann-Goldstein and Cowell, 1976). In contrast to the region adjacent to the breakpoint, region 3C1–10, which contains intercalary heterochromatin, shows more DNA in the translocated than in the non-translocated chromosome. Transposition may induce morphologically euchromatic regions containing putatively underreplicated sequences to undergo additional replication cycles. Region 2E1-3A4, distal to 3C1 and at some distance from the heterochromatic breakpoint is apparently unaffected. Extended replication and reduced DNA content in regions which have undergone chromosomal rearrangement could be accounted for by varying degrees of blockage of replication in individual strands of the polytene chromosome.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 72 (1986), S. 164-167 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed as deletion carriers. These observations demonstrate the benefit of screening retinoblastoma populations for esterase D deficiency.
    Type of Medium: Electronic Resource
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