28 Result(s)
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Article
K. Sperling
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High prevalence of theNBN gene mutation c.657-661del5 in Southeast Germany
Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in theNBN gene. Most patients known so far are of Slavic origin and carry the major founder mu...
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Polymorphisms in the DNA ligase IV gene might influence the risk of acute lymphoblastic leukemia in children
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X chromosome painting in Microtus: Origin and evolution of the giant sex chromosomes
Sex chromosomes in species of the genus Microtus present some characteristic features that make them a very interesting group to study sex chromosome composition and evolution. M. cabrerae and M. agrestis have en...
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Proving the Authenticity of Ancient DNA by Comparative Genomic Hybridization
In PCR-supported amplification of ancient, degraded DNA, contamination with contemporary DNA can lead to false-positive results, which frequently give rise to discussions in which the mere existence of ancien...
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Die kleine Fehlbildung des Mittelohres – ein genetisch bedingter Defekt?
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DNA Fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5: somatic stability and germline mutations
DNA fingerprints were generated from various human somatic tissues and from peripheral blood of 179 children and their 80 parents using (CAC)5/(GTG)5 oligonucleotide probes. Whereas somatic stability of the finge...
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Prematurely condensed human sperm chromosomes after in vitro fertilization (IVF)
During an in vitro fertilization (IVF) program 122 inseminated eggs showing polar body extrusion, but neither formation of pronuclei nor cell cleavage were analysed cytogenetically. Nine of these eggs showed p...
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Molekulargenetische Diagnostik: aktueller Stand — zukünftige Perspektiven
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Description of a chromosome replication unit in individual prematurely condensed human S-phase chromosomes
Mammalian chromosome replication was studied by the aid of premature chromosome condensation (PCC). After induction of PCC the sites of DNA replication appear as “gaps” between condensed chromosomal regions. T...
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Complementation studies between Fanconi's anemia cells with different DNA repair characteristics
Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rat...
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Analysis of heterogeneity in Fanconi's anemia patients of different ethnic origin
Complementation studies based on mitomycin C sensitivity were performed on somatic cell hybrids between cells of a German patient with Fanconi's anemia and a Turkish, Arab, and Black African proband, respectiv...
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Rabl's model of the interphase chromosome arrangement tested in Chinise hamster cells by premature chromosome condensation and laser-UV-microbeam experiments
In 1885 Carl Rabl published his theory on the internal structure of the interphase nucleus. We have tested two predictions of this theory in fibroblasts grown in vitro from a female Chinese hamster, namely (1)...
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Evolution of muntjac DNA
The extent of nuclear single-copy DNA divergence between Muntiacus reevesi and Muntiacus muntjak vaginalis (Cervidae), a species pair showing extreme karyotype differences but striking morphological similarity, i...
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Arrangement of prematurely condensed chromosomes in cultured cells and lymphocytes of the Indian muntjac
Premature chromosome condensation (PCC) was induced in order to study the arrangement of muntjac chromosomes in the interphase nuclei of proliferating and resting cells with respect to their polarity and the s...
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Antagonistic effect of cocultivation on mitomycin C-induced aberration rate in cells of a patient with Fanconi's anemia and in Chinese hamster ovary cells
The rate of spontaneous chromosomal aberrations in fibroblasts of a patient with Fanconi's anemia was slightly reduced after cocultivation with Chinese hamster ovary (CHO) cells. However, after mitomycin C tre...
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Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids
Cells of patients with Fanconi's anemia (FA) are characterized by their high mitomycin C sensitivity. This specific response was used to study the question of heterogeneity in cell hybrids. After fusion of som...
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Activity of rRNA genes in cells of a patient with Down syndrome mosaic
Disomic and trisomic cells of a patient with Down syndrome mosaic were used to study the effect of the additional chromosome 21 against an identical genetic background. The frequency of Ag staining and the par...
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Familial trisomy 9p and spinal muscular atrophy: Clinical, cytogenetic and embryological findings
The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented.
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A simple staining technique to demonstrate chromosomal DNA replication
With the BrdU technique here described, Giemsa stained metaphases with either early or late, replicational patterns can be obtained within 1 day after cell harvesting, showing a better resolution than3H-thymidine...
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Staining of the spindle apparatus in human lymphocyte and fibroblast cultures
The spindle apparatus of human mitoses can be preferentially stained with Giemsa if the cells are fixed with methanol-acetic acid and treated for about 15 min with 0.1xSSC at 92°C and for 18 h with 2xSSC at 60°C.
