Search results for "Metaphase"

showing 5 items of 35 documents

Metilazione del DNA in artrite reumatoide

2005

Lo stato di metilazione del DNA genomico e del gene PTHrP è stato valutato con tecniche molecolari e citogenetiche in artrite reumatoide (AR), patologia autoimmune caratterizzata anche da alta incidenza di linfomi e da ipercalcemia per overespressione del gene PTHrP. La metilazione del DNA, infatti, ha un ruolo critico nello sviluppo delle malattie neoplastiche; il gene PTHrP avendo tre promotori uno dei quali contiene un’isola CpG è un buon candidato per la deregolazione da alterato pattern di metilazione locale. Le indagini sulla metilazione genomica, condotte su DNA estratto da sangue periferico di pazienti e di donatori e amplificato in reazioni di Methylation-Sensitive Arbitrarily Prim…

Settore BIO/18 - Geneticainstead chromosomes of controls were almost uniformly decorated by brilliant grains. Studies on methylation of PTHrP gene promoter 2 performed on five CpG island internal sites using the Methylation-Sensitive Restriction Endonuclease Multiplex (MSREM)-PCR showed that one of the sites nearest the trascription starting point is heavy methylated in a significantly high number of RA patients. Thus RA seems to be characterized by genomewide hypomethylation associated with local hypermethylation like the most part of tumors. This result raises the possibility that susceptibility to lymphomas is related to abnormal DNA methylation levels and suggests the opportunity to evaluate the DNA methylation status in RA patientin fact the demethylating therapies together with diet and life style can act towards an increase of tumor risk. Future studies using a larger number of subjects could confirm these findings.Rheumatoid Arthritis (RA) is a chronic multisystem inflammatory disease characterized by high recurrence of lymphomas as well as hypercalcemia due to PTHrP overexpression. Because of DNA methylation plays a critical role in development of neoplasias we determined in RA patients the global DNA methylation status and local methylation pattern of the CpG island of one of the three promoters of PTHrP gene utilizing molecular and cytogenetic techniques. Investigations performed on DNA from peripheral blood of patients and donors amplified by Methylation-Sensitive Arbitrarily Primed (MeS-AP)-PCR indicated that RA is strongly associated with global DNA hypomethylation. Similarly chromosomal DNA methylation pattern analysis by indirect immunofluorescence technique with anti 5-methylcitosine antibody showed all peripheral lymphocyte metaphases from RA patients with chromosomes weakly fluorescent without discrete grain
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Effect of different cryopreservation protocols on the metaphase II spindle in human oocytes.

2008

The aim of this study was to evaluate the impact of different cryopreservation protocols on the repolymerization of metaphase (M)II spindles in human oocytes. Fresh aspirated donor oocytes were cryopreserved 3–4 h after retrieval using four different protocols: slow freezing using 1.5 mol/l 1,2-propanediol (PROH) + 0.2 mol/l sucrose (n = 36); 1.5 mol/l PROH + 0.3 mol/l sucrose (n = 34); 1.5 mol/l PROH + 0.3 mol/l sucrose with Na + depleted–choline replaced media (n = 27), and vitrification by the Cryotip method (n = 23). The control group comprised 34 fresh oocytes. Three hours after thawing, surviving and control oocytes were fixed for meiotic spindle/chromatin assessment. Survival rates w…

Slow freezingCryopreservationSucroseObstetrics and GynecologySpindle ApparatusBiologyCryopreservationAndrologychemistry.chemical_compoundMeiosisReproductive MedicinechemistryMeiosisMoleBotanyFreezingOocytesHumansVitrificationFemaleIncubationMetaphaseMetaphaseDevelopmental BiologyReproductive biomedicine online
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Fine Mapping of Gene Ordering by Elongated Chromosome Methods

2006

Publisher Summary Fluorescence in situ hybridization (FISH) can be used to localize specific DNA sequences on metaphase chromosomes, interphase nuclei, and experimentally extended DNA or chromatin fibers. Depending on the hybridization target, FISH techniques show widely different levels of DNA resolution. Mechanically stretched or elongated chromosomes fill the resolution gap between metaphase FISH and fiber FISH, allowing the rapid and straightforward ordering and localization of clones along the length of an entire chromosome with a 100- to 200-kb resolution. Although various genome projects have provided very high-resolution physical maps of human and important animal genomes, FISH is s…

medicine.diagnostic_testFiber FISHmedicineChromosomeGenome projectBiologyMolecular biologyGenomeMitosisMetaphaseFluorescence in situ hybridizationChromatinCell biology
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A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12

2011

A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical of AT such as frequent, severe infections of the respiratory tract. In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively reduced muscle tone with slackly protruding abdomen and undue drooling, excess fat on her upper arms, and severe oligoarthritis. A cranial…

medicine.medical_specialtyMicrocephalyPathologyCell Cycle ProteinsAtaxia Telangiectasia Mutated ProteinsProtein Serine-Threonine KinasesBiologyShort statureAtaxia Telangiectasia Mutated ProteinsAtaxia TelangiectasiaInternal medicineChromosome DuplicationGene duplicationGeneticsmedicineHumansLymphocytesChildSalivaCerebellar hypoplasiaMetaphaseGenetics (clinical)Mental DisordersTumor Suppressor ProteinsGeneral Medicinemedicine.diseaseDNA-Binding ProteinsEndocrinologyChromosome InversionAtaxia-telangiectasiaChromosomal regionSpeech delayMicrocephalyFemalemedicine.symptomApoptosis Regulatory ProteinsChromosomes Human Pair 19DNA DamageEuropean Journal of Medical Genetics
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Establishment and Characterization of a Continuous Human Chondrosarcoma Cell Line, ch-2879: Comparative Histologic and Genetic Studies with Its Tumor…

2003

Chondrosarcomas are malignant cartilage-forming tumors that represent the second most common malignant solid tumor of bone. These biologically poorly understood neoplasms vary considerably in clinical presentation and biologic behavior. Chemotherapy and radiation therapy are generally ineffective. Here we describe the establishment and characterization of a new human chondrosarcoma cell line named ch-2879, and we compare the cell line with its tumor of origin. The cell line was established from a recurrent grade 3 chondrosarcoma of the chest wall and characterized by growth kinetics and morphologic studies. Immunocytochemistry and RT-PCR were performed to examine the expression of cartilage…

medicine.medical_specialtyPathologyPopulationCell Culture TechniquesChondrosarcomaBone NeoplasmsChromosomal translocationVimentinPathology and Forensic MedicineCyclin D1Tumor Cells CulturedmedicineHumanseducationMolecular BiologyMetaphaseChromosome Aberrationseducation.field_of_studymedicine.diagnostic_testbiologyCytogeneticsKaryotypeCell BiologyFlow Cytometrymedicine.diseaseMicroscopy ElectronKaryotypingbiology.proteinCancer researchChondrosarcomaFluorescence in situ hybridizationLaboratory Investigation
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