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  • 1
    Electronic Resource
    Electronic Resource
    Evidence for the inheritance of silver-stained nucleolus organizer regions (1978)
    Springer
    Human genetics 〈Berlin〉 41 (1978), S. 181-187 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The inheritance of nucleolus organizer regions (NORs) was investigated by examining the degree of silver-staining in individual acrocentric chromosomes in two successive generations. The study was undertaken in six Down's syndrome children and their respective parents. Quinacrine fluorescent polymorphisms were used to identify individual acrocentrics and to determine which of the child's acrocentrics were informative as to parental homologue of origin. Of the 66 acrocentrics in the six children, 31 were informative. The correlation between the degree of silver-staining in the child's chromosomes and the respective parental chromosomes of origin was highly significant (P〈0.001), with a correlation coefficient of 0.90. The results suggest that the degree of Ag-AS staining is characteristic for a particular chromosome and that this characteristic is an inherited property.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273100
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  • 2
    Electronic Resource
    Electronic Resource
    Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 115-119 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine autoradiography and the BrdU-Hoechst 33258-Giemsa technique, lymphocytes and fibroblasts were found to show a preferential inactivation of the normal X suggesting the presence of a single mutant gene on the translocated X. This patient is one of seven reported cases of an X-linked muscular dystrophy associated with an X-autosome translocation. In all seven cases the exchange point in the X chromosome is in band p21 at or near the site of the Duchenne gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00270570
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  • 3
    Electronic Resource
    Electronic Resource
    Methylation of the 5′ flanking sequences of the ribosomal DNA in human cell lines and in a human-hamster hybird cell line (1992)
    New York, N.Y. : Wiley-Blackwell
    Journal of Cellular Biochemistry 50 (1992), S. 357-362 
    Details
    ISSN: 0730-2312
    Keywords: rDNA ; lymphoblastoid ; methylation ; hypermethylation ; DNA ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: In human lymphoplastoid cell line (Z83) in which rDNA genes on chromosomes 22 are amplified but transcribed at a low level, immunocytological studies with antibodies to 5 methylcytidine provided evidence for hypermethylation of the rDNA. The extent of methylation of the 5′ flanking sequence of the ribosomal DNA was examined by comapring the size of restriciton fragments obtained by digestion of genomic DNA with EcoRI and Hpall or EcoRI and Mpsl. Southern blots indicated hypermethylation of the 5′ flanking sequences of many copies of rRNA genes in these cells, but not in a control lymphoblastoid cell line without rDNA amplification. Results obtained with somatic hybird human-hamster cell line, in which the rRNA genes on the single human chromosomes 22 are inactive, showed that only a small fraction of the CCGG sites in the 5′ flanking sequences of the transcriptionally silent rRNA genes in this hybird were methylated. Since inactive rRNA genes can show such a minimal level of methylation, it is likely that the extreme hypermethylation of the apmlified rRNA genes in Z83 association with their inactivation rather than following it. © 1992 Wiley-Liss, Inc.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/jcb.240500404
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    Paper (German National Licenses)
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