We present a Ph-positive chronic myeloid leukaemia patient who lost a complete cytogenetic response (CCR) of 23 months duration at the time of detection of a deletion, not previously observed, of chromosomes 9 and 22 sequences flanking the translocation breakpoint on the derivate 9 chromosome. To our knowledge, this is the first case in which a deletion at the t(9;22) breakpoint has arisen as a secondary genetic alteration produced after formation of the t(9;22) translocation. It remains to be determined whether this genetic abnormality has the same prognostic importance as when observed at diagnosis.
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http://dx.doi.org/10.1046/j.1365-2141.2002.03432.x | DOI Listing |
Cureus
November 2024
Microbiology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, IND.
Introduction Dermatophytes are the most common cause of superficial fungal infection. They are mostly diagnosed using phenotypic methods, but recently the molecular methods seem to be gaining ground. The objective of the present study was to compare the phenotypic and genotypic methods of identification of dermatophytes and understand the feasibility of using molecular methods for routine diagnosis of dermatophytosis.
View Article and Find Full Text PDFBMC Mol Cell Biol
December 2024
Department of Biomedical and Molecular Sciences, Queen's University, Botterell Hall, 18 Stuart Street, Kingston, K7L 3N6, Canada.
Alanine-rich, alpha-helical type I antifreeze proteins (AFPs) in fishes are thought to have arisen independently in the last 30 Ma on at least four occasions. This hypothesis has recently been proven for flounder and sculpin AFPs, which both originated by gene duplication and divergence followed by substantial gene copy number expansion. Here, we examined the origins of the cunner (wrasse) and snailfish (liparid) AFPs.
View Article and Find Full Text PDFFront Biosci (Schol Ed)
December 2024
Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Background: Alternative cleavage and polyadenylation (APA) is a crucial post-transcriptional gene regulation mechanism that regulates gene expression in eukaryotes by increasing the diversity and complexity of both the transcriptome and proteome. Despite the development of more than a dozen experimental methods over the last decade to identify and quantify APA events, widespread adoption of these methods has been limited by technical, financial, and time constraints. Consequently, APA remains poorly understood in most eukaryotes.
View Article and Find Full Text PDFBiochem Biophys Res Commun
December 2024
Laboratory of Molecular Neurodegeneration, Peter the Great St Petersburg State Polytechnical University, St Petersburg, 195251, Russian Federation. Electronic address:
The expansion of glutamine residue track (polyQ) within soluble proteins (Q proteins) is responsible for nine autosomal-dominant genetic neurodegenerative disorders. These disorders develop when polyQ expansion exceeds a specific pathogenic threshold (Q) which is unique for each disease. However, the pathogenic mechanisms associated with the variability of Q within the family of Q proteins are poorly understood.
View Article and Find Full Text PDFInt J Legal Med
December 2024
Jiangsu Ankehugen Bio-Technology Co.,Ltd, Wuxi, 214177, China.
Y-chromosome short tandem repeats (Y-STRs) loci have significant research and application value in individual identification, parentage testing, kinship determination and genealogical DNA analysis due to their unique genetic characteristics. Currently, various commercial STR typing kits have used in forensic detection, which greatly promoting the scientific application of STR in criminal investigation and judicial trials. However, due to the complexity and specificity of biological samples, the special STR typing in the sample poses certain difficulties for the construction of DNA databases.
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