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  • 1
    Electronic Resource
    Electronic Resource
    Heterogeneities in the distribution of (GACA)n simple repeats in the karyotypes of primates and mouse (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 187-194 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Tandemly organized simple repetitive sequences are widespread in all eukaryotes. The organization of the simple tetrameric (GACA)n sequences at chromosomal loci has been investigated using in situ hybridization with chemically pure oligonucleotide probes. Both biotin- and digoxigenin-attached (GACA)4 probes reveal specific hybridization signals over the short arms of all acrocentric autosomes in man. In the other examined primates the NOR-bearing autosomes could be detected by in situ hybridization with (GACA)4, and a major concentration of the GACA simple repeats could be observed on the Y chromosome in the gibbon and mouse; the hybridization site in the gibbon Y chromosome coincides particularly with the silver-stainable NOR. In the past, accumulations of (GACA)n sequences were demonstrated mainly on vertebrate sex chromosomes. Therefore, the organization of GACA simple sequences is discussed in the context of their evolutionary potential accumulation and the possible linkage with the primate rDNA loci.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193194
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  • 2
    Electronic Resource
    Electronic Resource
    Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 421-423 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Nonradioactive in situ hybridization with an α-satellite DNA probe specific for chromosome 18 was performed on human interphase sperm nuclei to detect the frequency of sperm cells disomic for chromosome 18. A total of 16127 sperm heads from eight healthy donors, aged 23–57 years, was investigated, and a minimum of 2000 sperm nuclei per proband was analyzed. The disomy rate ranged from 0.25% to 0.5%, with an average of 0.36%. This frequency does not differ significantly from that determined for other chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201667
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  • 3
    Electronic Resource
    Electronic Resource
    Incidence of chromosome 3, 7, 10, 11, 17 and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybridization (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 7-12 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In situ hybridizations were performed on mature human sperm cells with biotin-labeled α-satellite DNA probes specific for chromosomes 3, 7, 10, 11, 17, and X in order to reveal the disomy rate for each of these chromosomes. A total of 76 253 sperm nuclei from seven healthy probands aged 23–57 years were analyzed. An average of 12 000 sperm nuclei (at least 1500 per donor) showing hybridization were scored with each probe. The disomy rate as indicated by two distinct hybridization signals turned out to be similar for all chromosomes, ranging from 0.31% to 0.34%. There were no significant interindividual differences and no age correlation in the frequency of disomic sperm cells between the donors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00218904
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  • 4
    Electronic Resource
    Electronic Resource
    Aneuploidy and ageing: sex chromosome exclusion into micronuclei (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 295-298 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In lymphocyte cultures, the number of aneuploid cell nuclei increases with proband age mainly because of the loss of sex chromosomes. Since one possible cause of aneuploidy in cell nuclei is chromosomal lag at anaphase, with subsequent chromosome loss via micronucleus formation, we scored 5000 interphase nuclei from ten female and ten male probands for associated micronuclei. Whereas, in young (〈 10 years) probands, an average of 0.15% interphase nuclei exhibited micronuclei, the frequency rose to 0.46% in older probands (〉 70 years). In situ hybridizations with X-specific and Y-specific DNA probes were carried out, and the signal distribution in ten nuclei with associated micronuclei was documented for each donor. Our results indicate that the exclusion of sex chromosomes into micronuclei doubles during a human life, from 11% in young probands to 20% in old donors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00208287
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  • 5
    Electronic Resource
    Electronic Resource
    Cytogenetic and molecular analysis of a Yq isochromosome (1990)
    Springer
    Human genetics 〈Berlin〉 86 (1990), S. 147-150 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The dicentric Yq isochromosome of a male with azoospermia and some features of Klinefelter's syndrome was examined using cytogenetic and molecular methods. C- and R-banding of chromosomes of peripheral blood lymphocytes revealed a complex mosaic consisting of 46,X,i(Yq)/45,XO/46.XY/47,XYY/47,XY, i(Yq) / 47,X,i(Yq),i(Yq) cells. EBV-transformed lymphocytes either had a 46,X,i(Yq) (90%) or a 46,X,+mar (10%) karyotype. The marker chromosome was shown to be Y-derived by in situ hybridization. C-banding, quinacrine-and DA/DAPI-staining indicated inactivation of one of the centromeres in almost all Yq isochromosomes. The use of Y chromosomal DNA sequences demonstrated that most of the Y chromosome, including its short arm, was duplicated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197696
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  • 6
    Electronic Resource
    Electronic Resource
    Non-isotopic detection of chromosome 1 in human meiosis and demonstration of disomic sperm nuclei (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 261-265 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Nonradioactive in situ hybridization with the biotin-labeled chromosome 1-specific probe pUC1.77 was performed on human mitotic and meiotic chromosomes, and on sperm nuclei. The streptavidine-horseradish-peroxidase and diaminobenzidine detection system demonstrated heteromorphisms in the Iq12 heterochromatic region, not only in mitotic cells but also in mature sperm heads. The localization of chromosome 1 could be traced through all meiotic stages and in the sperm nuclei. The frequency of chromosome 1 disomy in human sperm, as indicated by two distinct hybridization signals, was calculated to be 0.41%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200901
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  • 7
    Electronic Resource
    Electronic Resource
    Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 680-684 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Blood samples of an 8-year-old girl with Turner syndrome were examined using cytogenetic and molecular methods. Chromosomal analyses revealed a mosaic karyotype consisting of 25% 47,X,der(X),+r(X) and 75% 46,X,der(X) cells. Southern blot hybridizations with Y-specific DNA probes excluded a Y chromosomal origin of the small ring chromosome. In situ hybridization using DNA probe pXBR showed it to be X-derived. Examination of C-, Q-, and R-banding patterns indicated that the der(X) chromosome probably arose by a translocation event.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201725
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  • 8
    Electronic Resource
    Electronic Resource
    Evolutionary diversity of reverse (R) fluorescent chromosome bands in vertebrates (1988)
    Springer
    Chromosoma 97 (1988), S. 101-114 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mitotic chromosomes, interphase cell nuclei, and male meiosis of 41 species representing all vertebrate classes were analyzed with distamycin A/mithramycin counterstaining. The purpose of the study was to recognize differences and common characteristics in the reverse (R) fluorescent banding patterns in the chromosomes of vertebrate species at various stages of evolution. In contrast to the warm-blooded mammals and birds, the euchromatic segments in the chromosomes of most reptiles, amphibians, and fishes contain no multiple fluorescent R-bands. This is thought to be due to the absence of the long homogeneous regions (isochores) in the DNA of the cold-blooded vertebrates. Distamycin A/mithramycin banding specifically reveals the GC-rich constitutive heterochromatin in all vertebrates. In most of the vertebrate chromosomes examined, the heterochromatic regions have opposite staining properties with mithramycin and quinacrine. Mithramycin labels the nucleolus organizer regions very brightly in the karyotypes of fishes, amphibians, reptiles and birds, but not of mammals. The lack of mithramycin fluorescence at the nucleolus organizer regions of mammals is attributed to the relatively low level of redundancy of the GC-rich ribosomal DNA in their genomes. Studies on the various meiotic stages of the cold-blooded vertebrates show that the mithramycin labeling of the nucleolus organizers is independent of their state of activity. This can be confirmed by mithramycin fluorescence at the nucleoli of actinomycintreated cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00327367
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  • 9
    Electronic Resource
    Electronic Resource
    Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 1-21 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Sperm chromosome analysis offers the opportunity to gather information about the origin of chromosome aberrations in human germ cells. Over the last 20 years more than 20 000 sperm chromosome complements from normal donors and almost 6000 spermatozoa from men with constitutional chromosome aberrations (inversions, translocations) have been analyzed for structural and numerical chromosome abnormalities, as well as for segregation of the constitutional chromosome aberrations after the sperm had penetrated hamster oocytes. On the other hand, it took only 6 years to screen more than 3 million mature spermatozoa from healthy probands for disomy rates of 20 autosomes (chromosomes 19 and 22 not evaluated) and the sex chromosomes, and for diploidy rates by in situ hybridization techniques. In the present paper the results arising from both methods are compiled and compared.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050459
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  • 10
    Electronic Resource
    Electronic Resource
    Cytogenetics of the Genus Leporinus (Pisces, Anostomidae). II. Molecular Cytogenetics, Organization and Evolutionary Conservation of a Chromosome-Specific Satellite DNA from Leporinus obtusidens (1997)
    Springer
    Chromosome research 5 (1997), S. 325-331 
    Details
    ISSN: 1573-6849
    Keywords: evolution ; fish molecular cytogenetics ; Leporinus ; satellite DNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A chromosome-specific satellite DNA from the South American fish species Leporinus obtusidens has been isolated and characterized. Sequence analysis and Southern hybridization studies indicate that the cloned 483-bp fragment is 60% AT rich and appears to comprise two diverged monomers. A highly variable low-copy number polymorphism was detected and, thus, this satellite DNA may serve as a valuable genetic marker. Using a Southern blot approach, the cloned satellite DNA cross-hybridized strongly to the DNA of Leporinus elongatus but failed to detect homologous sequences in the genomes of other closely related Leporinus species and higher vertebrates. Using fluorescence in situ hybridization to mitotic metaphase spreads of L. obtusidens and L. elongatus, this satellite DNA was located to the (peri)centromeric region of one single chromosome pair in both species. As the cloned satellite DNA sequence clearly evolved along a chromosomal lineage and is highly variable, it may serve as a very useful marker in further genetic, molecular and cytogenetic studies of the genus Leporinus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/B:CHRO.0000038763.52875.48
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