Search results for "Cytogenetic"
showing 10 items of 159 documents
Loss of a novel tumor suppressor gene locus at chromosome 8p is associated with leukemic mantle cell lymphoma
2001
Abstract Patients with mantle cell lymphoma (MCL) may present with either nodal or leukemic disease. The molecular determinants underlying this different biologic behavior are not known. This study compared the pattern of genetic abnormalities in patients with nodal and leukemic phases of MCL using comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) for specific gene loci. Although both leukemic and nodal MCL showed similar genomic patterns of losses (involving 6q, 11q22-q23, 13q14, and 17p13) and gains (affecting 3q and 8q), genomic loss of chromosome 8p occurred more frequently in patients with leukemic disease (79% versus 11%,P < .001). Subsequent…
Cytogenetics, flow cytometry, cytophotometry and morphometry of 22 cases of primary breast carcinoma. A comparative study.
1992
Cytogenetic, flow cytometric, cytophotometric and morphometric analyses were performed on 22 previously untreated, primary solid breast carcinomas. Although the cell nuclei as the primary object of these studies were the same in all the tumors, distinct features were evaluated in each case to determine to what degree the results obtained by these techniques are comparable. From the cytogenetic viewpoint, six tumors had a modal number in the diploid range, seven were in the triploid range, and two in the tetraploid range; seven tumors had no modal number. These data correlate with the flow cytometry and cytophotometry results obtained, with DNA values slightly higher than their respective ch…
Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus
2018
Background Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Thus, the aim of the study was: a) to demonstrate the clinical and histopathological features of a three-generation Turkish family with oral WSN b) to determine whether KRT4 or KRT13 gene mutation was the molecular basis of WSN. Material and Methods Out of twenty members of the family ten were available for assessment. Venous blood samples from six affected and five unaffected members and 48 healthy controls were obtained f…
Arsenic-induced DNA hypomethylation affects chromosomal instability in mammalian cells
2004
Early genetic instability induced in dividing V79-Cl3 Chinese hamster cells by inorganic arsenic, as demonstrated in our previous investigation, was evidenced by aneuploidy and nuclear abnormalities, but not by chromosomal rearrangements. Here we report the results of cytogenetic and morphological analyses performed on the progeny of cells dividing at the end of sodium arsenite treatment after they had been expanded through 120 generations (ASO cells) and then cloned. The acquired genetic instability persisted and was increased by highly unstable chromosomal rearrangements, namely dicentric chromosomes and telomeric associations, which were not seen following acute exposure. A peculiar find…
Spermatocyte chromosome analysis of Helicella virgata (Pulmonata: Helicidae): silver-stained and C-banded chromosomes.
1991
Chromosome numbers of the snail Helicella virgata from the fields of Castellammare del Golfo (Sicily) are n = 26 and 2n = 52. Silver-staining analyses of testicular cells suggest that both mitotic and meiotic chromosomes are involved in nucleolus organization. A within-individual variability in NOR-banding pattern is present in each of the 20 specimens analyzed.
Centromeric enrichment of LINE-1 retrotransposon in two species of South American monkeys Alouatta belzebul and Ateles nancymaae (Platyrrhini, Primat…
2022
LINE-1 sequences have been linked to genome evolution, plasticity and speciation; however, despite their importance, their chromosomal distribution is poorly known in primates. In this perspective, we used fluorescence in situ hybridization (FISH) to map LINE-1 probes onto two representative platyrrhine species, Aotus nancymaae (Cebidae) and Alouatta belzebul (Atelidae), both characterized with highly rearranged karyotypes, in order to investigate their chromosomal distribution and role and to better characterize the two genomes. We found centromeric enrichment of LINE-1 sequences on all biarmed and acrocentric chromosomes co-localized with heterochromatin C-positive bands. This distributio…
Low frequency of HLA haplotype loss associated with loss of heterozygocity in chromosome region 6p21 in clear renal cell carcinomas.
2004
HLA class I loss or downregulation is a widespread mechanism used by tumor cells to avoid tumor recognition by cytotoxic T lymphocytes favoring tumor immune escape. Multiple molecular mechanisms are responsible for these altered HLA class I tumor phenotypes. It has been described in different epithelial tumors that loss of heterozygosity (LOH) at chromosome region 6p21.3 is a frequent mechanism that leads to HLA haplotype loss, ranging between 40 and 50%, depending on the tumor entity analyzed. Here we have tested the frequency of LOH at 6p21 chromosome region in Renal Cell Carcinomas (RCC) of the clear cell and chromophobe subtype. A low frequency of HLA haplotype loss (6.6%) was found in …
A new pericentric inv(8) in acute nonlymphocytic leukemia.
1993
Abstract Chromosome studies were carried out on unstimulated bone marrow cells from a patient with a diagnosis of acute nonlymphocytic leukemia (FAB M6 ANLL). Cytogenetic analysis revealed a mosaic chromosome pattern 46,XX46,XX,inv(8)(p21q24). This pericentric inversion has not been previously described in ANLL. Because, fragile sites, zinc finger gene loci, and the MYC protooncogene have been localized to band 8q24, a putative role for these sites and genes could be considered.
Microarray mRNA expression analysis of Fanconi anemia fibroblasts.
2007
Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different <i>FANC</i> genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (<i>CTSB</i>), glutaredoxin (<i>GLRX</i>), and polo-like kinase 2 (<i>PLK2</i>), that were misregulated in untreated primary fibroblasts from three unrelated FA-D2 patients, compared to six controls. Quantitative real-time RT PCR was used to validate these results and to study possible molecular links between FA-D2 and other FA subtypes.…
The banding pattern of polytene chromosomes of Drosophila guanche compared with that of D. subobscura.
1987
A detailed map of the salivary gland chromosomes of Drosophila guanche is presented and compared to the standard gene arrangements of D. subobscura. Generally, the polytene chromosomc banding patterns of the two species show a high degrce of homology. Only Segment I of the sex chromosome (Chromosome A) shows marked differences. The banding pattern proposed for this segment in D. guanche could have originated from a cluster of overlapping inversions including A1 arrangement.