The induction of chromosomal aberrations and sister-chromatid exchanges (SCE) was studied in human lymphocyte cultures treated with chloramphenicol (CAP), an antimicrobial agent acting by inhibiting protein synthesis. Moreover chromosomal aberrations and sister-chromatid exchanges were studied in bone marrow cells of treated mice and in Chinese hamster cell cultures (V79) respectively. While no aberrations were induced by short treatments in human lymphocytes exposed in G1 and G2 phases, high frequencies of aberrations, exclusively of the chromatid type, were induced when the drug was administered during a whole cell cycle. Aberrant metaphases were detected only at the end and a few hours after the end of treatment; at later times aberrant cells reached control values. Doses producing aberrations only slightly increased SCE both in human lymphocytes and in V79 cells. In mouse bone marrow cells CAP induced a high mitotic delay and few structural aberrations; intrachromosomal vacuoles were observed.
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http://dx.doi.org/10.1016/0027-5107(91)90096-7 | DOI Listing |
Curr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.
Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Neurology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Neuroscience and Mental Health Innovation Institute, Cardiff University, Hadyn Ellis Building, Cardiff CF24 4HQ, UK.
Deletion and duplication in the human 16p11.2 chromosomal region are closely linked to neurodevelopmental disorders, specifically autism spectrum disorder. Data from neuroimaging studies suggest white matter microstructure aberrations across these conditions.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Department of Animal, Veterinary and Food Science, University of Idaho, Moscow, ID 83844, USA.
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