22 Result(s)
within
K Sperling
Human Genetics
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Article
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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Article
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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Chapter
Frequency of the Delta-F508 Mutation and Flanking Marker Haplotypes at the Cystic Fibrosis Locus from 167 Czech Families
This study was undertaken in order to compare the predominantly Slavic Czech Cystic Fibrosis (CF) population of Bohemia and Moravia (Czech Republic of Czechoslovakia) with other Caucasian populations in Europe...
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Article
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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Chapter
Complementation Studies in Fanconi Anemia Using Cell Fusion and Microinjection of mRNA
In medical genetics, it has frequently been found that a well-known clinical syndrome, once believed to be a single genetic entity, actually represents a collection of genetically distinct disorders (intergeni...
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Article
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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Article
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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Chapter and Conference Paper
Frequency and Origin of Chromosome Abnormalities in Man
During the past 25 years human cytogenetics has changed from a highly specialized academic discipline restricted to only a few institutions to a rapidly expanding area of research and routine application invol...
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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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.
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Article
Cytogenetic investigations in a new case of Bloom's syndrome
Cytogenetic studies of an 8-year-old caucasian girl with typical but mild manifestation of Bloom's syndrome showed a characteristic increase of homologous chromatid translocations and prematurely condensed chr...
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Article
Frequency and distribution of sister-chromatid exchanges in a case of Fanconi's anemia
In lymphocytes of a 7-year-old boy with Fanconi's anemia the frequencies and sites of sister-chromatid exchanges (SCE) were studied with the BrdU-Giemsa method. The average frequency of SCE (8.8 per metaphase)...
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Article
Relative DNA content of human euchromatin and heterochromatin after G, C and giemsa 11 banding
Human chromosomes and interphase nuclei labeled with 3H-thymidine and treated with the ASG and trypsin technique for G banding show no DNA loss. However, after G11 and C banding significantly more DNA is removed ...
