The structure and sizes of different short deletions of Drosophila melanogaster X-chromosome: left break in the region of locus y-ac-sc, right break in different parts of the heterochromatic region (HR) near the centromere, of the nuclei of salivary glands and metaphases of oogonia were compared. It is suggested, that the development of large blocks of deoxynucleoproteins by a small number of loci of the HR, observed in mitotic chromosomes, is due to their ability to undergo additional replication, as it previously has been shown for locus bobbed. HR in human chromosomes provide high polymorphism of the chromosome sets. The same chromosome can appear in several varieties within a population. The varieties differ in sizes of the HR and their ability for intensive fluorescence. The appearance of these heredical varieties are conditioned by deletions, duplications and inversions in the HR. Studies on revealing boundaries between normal and pathological HR polymorphism of human chromosomes are in progress.
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Dokl Biochem Biophys
January 2025
Voronezh State University, Voronezh, Russia.
Creation and long-term in vitro maintenance of valuable genotype collection is one of the modern approach to conservation of valuable gene pool of woody plants. However, during prolonged cultivation, genetic variability of cells and tissues may accumulate and lead to the loss of valuable characteristics of parental plants. It is therefore important to assess the genetic (including cytogenetic) stability of collection clones.
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
Mature aggressive B-cell lymphomas, such as Burkitt lymphoma (BL) and Diffuse large B-cell lymphoma (DLBCL), show variations in microRNA (miRNA) expression. The entity of High-grade B-cell lymphoma with 11q aberration (HGBCL-11q) shares several biological features with both BL and DLBCL but data on its miRNA expression profile are yet scarce. Hence, this study aims to analyze the potential differences in miRNA expression of HGBCL-11q compared to BL and DLBCL.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Department of Internal Medicine, University of Kentucky, Lexington, Kentucky, USA.
BCR::ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like BCR::ABL1 positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such as and Cases with CRLF2 rearrangements account for approximately 50% of cases of Philadelphia-like acute lymphoblastic leukaemia (Ph-like ALL), and the frequency of specific genomic lesions varies with ethnicity such that IGH::CRLF2 translocations are more common in Hispanics and Native Americans.We report two cases of BCR::ABL1-like ALL, with significant eosinophilia.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFFront Oncol
January 2025
AO Vector-Best, Novosibirsk, Russia.
Background: Cervical screening, aimed at detecting precancerous lesions and preventing cancer, is based on cytology and HPV testing. Both methods have limitations, the main ones being the variable diagnostic sensitivity of cytology and the moderate specificity of HPV testing. Various molecular biomarkers are proposed in recent years to improve cervical cancer management, including a number of mRNAs encoded by human genes involved in carcinogenesis.
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