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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
Polymorphisms in the DNA ligase IV gene might influence the risk of acute lymphoblastic leukemia in children
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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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Article
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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Chapter
4. Genetik-Workshop des Robert Koch-Instituts 2/99 in Berlin
Seit 1992 sind im Bundesgesundheitsamt (BGA) und später in dessen Nachfolgeeinrichtung, dem Robert Koch-Institut (RKI), bisher drei Experten-Veranstaltungen zu Themen der experimentellen Genetik du...
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Article
Die kleine Fehlbildung des Mittelohres – ein genetisch bedingter Defekt?
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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
Molekulargenetische Diagnostik: aktueller Stand — zukünftige Perspektiven
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Chapter and Conference Paper
Mixed Karyotypes Obtained by Chorionic Villi Analysis: Mosaicism and Maternal Contamination
We report here on a series of chromosome analyses of 60 chorionic villi samples. The villi were obtained from chorionic biopsies carried out immediately before termination of pregnancy or from abortions (spont...
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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
Abstracts of Selected Posters
The analysis of chromosomes of mouse embryos permits detection of transmitted chromosome damage. The protocol involves the treatment of one parent (usually the male) with a clastogen, recovery of embryos and p...
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Chapter
Map** of genetic activity on mammalian chromosomes
During the process of chromosome condensation the rate of RNA synthesis declines to almost zero at metaphase and does not resume before late telophase. Thus, in contrast to polytene or lampbrush chromosomes no...
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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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Chapter
Mutation in Mammalian Cells after Deep Freezing
Many years of experience in cryoconservation of human sperm with freezing periods of up to ten years revealed good insemination results, notwithstanding a minor loss of motility (Behrman and Ackerman, 1969). T...
