• In this study, possible genotoxic effects of zinc oxide (ZnO) nanoparticles were investigated in cultured human peripheral lymphocytes by using chromosome aberrations and micronucleus assays (MN). (comu.edu.tr)
  • The analytical method of the aberrations on preparations of uniformly stained chromosomes of the peripheral blood lymphocytes has been used. (org.ua)
  • Ten cases with known cryptic aberrations were selected (seven cases with subtelomeric rearrangements, one case with an interstitial deletion and two cases with microdeletion syndromes: one case with DiGeorge syndrome and one case with a microdeletion of 17p11 (Smith Magenis syndrome) in 60% of the lymphocytes). (bmj.com)
  • During each of the two PCR rounds a sense primer located within exon 5 of the MLL gene at 11q23 was combined with four different antisense primers, each located within possible translocation partner genes at chromosomes 4, 6, 9, and 19, respectively. (understandinginterventions.org)
  • For this reason, automatic fluorescence-based DNA-fragment analysis was used to exactly define the MLL translocation partner genes if a positive result had been obtained by agarose gel analysis. (understandinginterventions.org)
  • A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
  • Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
  • In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
  • We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. (biomedcentral.com)
  • Genomic DNA copy number variation is a hallmark of cancer and can lead to alteration in the expression and functions of genes residing within the affected chromosomal region [ 5 ]. (biomedcentral.com)
  • Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)
  • 3.3 Concept of Human Genome : nuclear genome, mitochondrial genome, Chromosome and chromosomal aberrations in man (Numerical and structural aberrations, point mutation), Satellite DNA. (souravsirclasses.com)
  • Additionally, the model was used to scale chromosomal exchanges in two or three chromosomes that were obtained from whole-chromosome FISH painting analysis techniques to whole-genome equivalent values. (bioone.org)
  • Furthermore, and perhaps more interestingly, GenomePlex WGA enables researchers to representatively amplify the genome from samples that have been fragmented to an average size of less than 1 kb. (sigmaaldrich.com)
  • F. Finally, the effects of chromosomal rearrangements on non-coding elements in the genome can best be studied by deleting an entire locus by. (schleiden-eifel.de)
  • The most notable example is NIPT for trisomy 21 (where the genome of the fetus contains an extra copy of chromosome 21), which causes Down syndrome, a test that has shown high sensitivity and specificity not only in high-risk populations like advanced maternal age pregnancies, but also in the general population [7]. (identifai-genetics.com)
  • To cover the whole genome, genome wide screening for chromosomal imbalances using microsatellite markers has been reported, 17, 18 as well as metaphase CGH. (bmj.com)
  • 19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
  • Polycentric chromosomes are produced by chromosomal aberrations such as deletion, duplication, or translocation. (wikipedia.org)
  • Despite the large chromosome fragments involved in the unbalanced translocation in this case, repeated standard G-band analysis could not reveal this rearrangement due to the similarity in the banding pattern of the chromosome fragments involved. (bmj.com)
  • A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
  • Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.com)
  • The first tumours they sequenced had mutational phenotypes that went against a gradual model of tumour evolution, no mutations on some chromosomes but massively instable (chromothriptic) chromosome 15. (blogspot.com)
  • The nature of ionizing these effects can vary significant- fects, including DNA damage, chro- radiation ly, depending on the resulting dose mosomal aberrations, mutations, cell distribution or distribution of radionu- transformation, and cell killing (NRC, Ionizing radiation is a term used for clides throughout the body. (who.int)
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
  • Nonetheless, phenotype-genotype correlations suggest that two or more genetic elements in interval 1A may contribute to the sex-determining function of the Y chromosome. (nih.gov)
  • Any substance that damages DNA or chromosomes, or changes genetic activity, is genotoxic because it is acting on the same material, i.e. the DNA molecule. (whale.to)
  • Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
  • J. Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). (schleiden-eifel.de)
  • Morgan, Sturtevant, Bridges and Muller constructed the first genetic linkage maps from recombination studies in crosses made in the fruit fly and from cytological preparations of its polytene salivary gland chromosomes [ 4 - 6 ]. (biomedcentral.com)
  • Since the genetic code was deciphered much has been learnt about the chromosome structure shared by all organisms from yeast to human. (biomedcentral.com)
  • The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. (lookformedical.com)
  • Characterization of the chromosomal rearrangements shown in Figure 1 also revealed that two genetic elements (proximal and distal MES [maintenance elements for silencing]), about 70 kb apart in the Scr gene, must be in cis to maintain proper repression. (nih.gov)
  • However, to realize the full potential of hiPSCs for disease modeling and drug screening, several challenges still need to be overcome, as there is the high variability between hiPSC lines, the risk of accumulating genetic aberrations when culturing hiPSCs, and the lack of standardized procedures for hiPSC generation as such (reviewed by Volpato and Webber, 2020 ). (frontiersin.org)
  • examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
  • The karyotype demonstrated tumor cell patterns with aneuploidy and complex chromosomal aberrations. (biomedcentral.com)
  • This study suggests that no chromosomal anomalies are present but the aneuploidy is the result of a reactive process. (globale-dermatologie.com)
  • Detection of four different 11q23 chromosomal abnormalities by multiplex-PCR and fluorescence-based automatic DNA-fragment analysis. (understandinginterventions.org)
  • Repp R, Borkhardt A, Haupt E, Kreuder J, Brettreich S, Hammermann J, Nishida K, Harbott J, Lampert F. Detection of four different 11q23 chromosomal abnormalities by multiplex-PCR and fluorescence-based automatic DNA-fragment analysis. (understandinginterventions.org)
  • Jan 1, 2018 ยท Chromosomal abnormalities usually occurs during S-phase (synthesis phase) of cell cycle in which DNA synthesis takes place. (schleiden-eifel.de)
  • However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
  • Two of them have chromosomal abnormalities, and both acquire 2p gain and 5q deletion at sAML stage. (elsevierpure.com)
  • On the other hand, aCGH showed novel chromosome abnormalities (+2p and del5q) potentially associated with disease progression. (elsevierpure.com)
  • The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
  • The staff chronic exposure absorbed doses are estimated by means of the linear part of the linear-quadratic equations, which describe the calibration dose dependence of the unstable chromosomal exchanges yield in the acute irradiated blood samples in vitro. (org.ua)
  • In vitro mammalian chromosome aberration test with Chinese hamster lung fibroblasts (met. (europa.eu)
  • Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • and Golbus, M S, "Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • Therefore, identification and characterization of the chromosome regions with DNA copy number alteration in Western and Asian countries is important to unravel the mechanism underlying lung tumorigenesis. (biomedcentral.com)
  • It is observed that both biological effects and epidemiological effects appear to be the same or very similar from ELF exposure and from RF/MW exposures, including calcium ion efflux, melatonin reduction, DNA strand breakage, chromosome aberrations, leukaemia, brain cancer, breast cancer, miscarriage and neurological effects. (whale.to)
  • The transcription units are shown above the genomic DNA, while chromosomal aberrations are shown below (solid triangles indicate insertions of transposable elements and upward arrows indicate breakpoints of translocations and inversions). (nih.gov)
  • The mitochondrial haplogroup (L3e2b1a1) is indicative of maternal ancestors' arrival to the Indian subcontinent about 70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less than 25 000 y ago. (ijpsonline.com)
  • Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
  • and through the analysis of mitochondrial and Y-chromosome haplogroups decipher the migratory routes as well as the time for the ancestors of this individual to reach India. (ijpsonline.com)
  • Screening for chromosomal imbalances by array CGH, whether using cDNA 23 or BAC clones, 24 has mainly been performed on cancer samples, 25- 30 which usually contain large gene dose alterations. (bmj.com)
  • 31, 32 In this report we used a cDNA micro-array and two BAC clone micro-arrays on 10 previously identified cases containing 16 cryptic chromosome aberrations, to test their performance for the detection of small imbalances. (bmj.com)
  • All chromosome imbalances were size mapped using BAC and PAC clones based on clone mapping databases ( www.ensembl.org , July 2003), except for case 9, which was size mapped using a chromosome 22 specific micro-array. (bmj.com)
  • In addition to KIT/PDGFRA mutational status, our findings indicate that secondary chromosomal changes contribute significantly to tumor development and progression of GIST and that genomic complexity carries independent prognostic value that complements clinico-pathological and genotype information. (biomedcentral.com)
  • The incidence of chromatid gaps was similar between the groups, but chromatid breaks associated with fragments were significantly increased in the high exposure group. (cdc.gov)
  • In this research, four types of chromosome aberrations were observed as chromatid and chromosome breaks, fragment and dicentric chromosomes. (comu.edu.tr)
  • Under the conditions of the study the test material did not induce a significant level of chromosome aberrations in Chinese hamster V79 cells either with or without metabolic activation. (europa.eu)
  • The test chemical did not induce chromosome aberrations in the mammalian cell line in the presence and absence of S9 metabolic activation system and hence it is not mutagenic in the chromosome aberration study performed. (europa.eu)
  • The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function. (biomedcentral.com)
  • One of the purposes of this review is to encourage research into chromosome structure as this could help advance molecular cytogenetics. (biomedcentral.com)
  • The results reported here add valuable information to the still fragmented molecular basis of ET to sAML evolution. (elsevierpure.com)
  • 3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
  • See [http://{{flybaseorg}}/wiki/FlyBase:Maps FlyBase Maps] for a collection of polytene chromosome images. (flybase.org)
  • These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)
  • Clone Y5 was sublocalized to band Yq 11.22 by hybridization to a panel of cellular DNA from patients with Y chromosome rearrangements. (barrowneuro.org)
  • Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
  • The current version of the model gives predictions of the yields and sizes of translocations, dicentrics, rings, and more complex-type aberrations formed in the G 0 /G 1 cell cycle phase during the first cell division after irradiation. (bioone.org)
  • The first clinical uses of NIPT were for chromosomal-level anomalies (a.k.a. aneuploidies). (identifai-genetics.com)
  • Agilent CGH Analytics software (v3.4) was used to visualize, detect and analyse aberration patterns from CGH microarray profiles. (sigmaaldrich.com)
  • But genomic hybridazation cannot detect chromosomial aberrations of less than 2 kilobases, the authors thus acknowledge that a small chromosomal change can be present. (globale-dermatologie.com)
  • We present a computational model for calculating the yield of radiation-induced chromosomal aberrations in human cells based on a stochastic Monte Carlo approach and calibrated using the relative frequencies and distributions of chromosomal aberrations reported in the literature. (bioone.org)
  • Fragmented DNAs were then run on a 1.2% agarose gel (E-gel Agarose Gels PN# G5000, Invitrogen, CA) to determine the fragment size distributions. (sigmaaldrich.com)
  • 2007)] '''Estimated Cytological band''' Approximate extent of the classical cytological chromosome bands described by Bridges. (flybase.org)
  • 3.2 Biological basis of inheritance: DNA structure and replication, Restriction Fragment Length Polymorphism (RFLP), Variable Number of Tandem Repeat(s) (VNTRs), Short Tandem Repeat(s) (STRs) protein synthesis, gene, allele, cell division. (souravsirclasses.com)
  • Proof of the chromosomal theory of inheritance was a decisive event in biology that turned cytologists into cytogeneticists. (biomedcentral.com)
  • Whether a human embryo develops as a male or a female is determined by the presence of the Y chromosome. (nih.gov)
  • The long series of GA repeats in Y5, anticipated to be polymorphic, may provide a sensitive means to follow Y chromosome variation in human populations. (barrowneuro.org)
  • Chromosome damages are widely used as biomarkers in monitoring human exposure to carcinogenic agents [8, 20, 36]. (bvsalud.org)
  • 1. Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity . (idtdna.com)
  • Clone Y1 hybridized to multiple restriction enzyme fragments in both male and female DNA with more intense bands in male DNA. (barrowneuro.org)
  • Clone Y2, also found in female and male DNA, is probably located in the pseudosutosomal region because extra copies of either the X or Y chromosomes increased Y2 restriction enzyme fragment intensity in total cellular DNA. (barrowneuro.org)
  • Six staff persons from 32 investigated ones have the individual frequency of the recent exposure specific markers (unstable chromosomal exchanges with accompanying pair fragments) significantly higher than those for the comparison group and the population average spontaneous level. (org.ua)
  • The doses calculated from the frequency of unstable chromosomal exchanges with the accompanying pair fragment caused by the recent exposure of six staff persons are exceeding significantly the doses determined by the methods of physical dosimetry and the occupational exposure dose limits. (org.ua)
  • You can use random sequence oligonucleotides to identify single nucleotide polymorphisms (SNPs) as well as small scale chromosome events, primarily insertions or deletions [ 5,6 ]. (idtdna.com)
  • The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)
  • A previously developed DNA-fragmentation model for high- and low-LET radiation called the NASARadiationTrackImage model was enhanced to simulate a stochastic process of the formation of chromosomal aberrations from DNA fragments. (bioone.org)
  • Since the early years of radiobiology the cellular effects of ionizing radiation have been studied in the context of induced chromosomal aberrations, and early models of radiation action were largely based upon such studies (Savage 1996). (nationalacademies.org)
  • citation needed] Polycentric chromosomes usually result in the death of the cell because polycentric chromosomes may fail to move to opposite poles of spindle fiber during anaphase. (wikipedia.org)
  • As a result, the chromosome is fragmented, which causes the death of the cell. (wikipedia.org)
  • In 48 h treatments, while ZnO nanomaterials induced significant increase of the percentage of abnormal cells only at a concentration of 10 mu g/mL, and of chromosome aberration per cell in comparison to the control at concentrations of 5 and 10 mu g/mL. (comu.edu.tr)
  • If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)
  • The chromosome number of this cell is 2n-1 = 45. (schleiden-eifel.de)
  • NIPT is based on the presence of DNA fragments that circulate in our blood plasma, outside of blood cells, named cell-free DNA (cfDNA). (identifai-genetics.com)
  • These studies reaffirmed that chromosome structure and behavior in somatic and germ cell divisions were common to all plants and animals. (biomedcentral.com)
  • No chromosome was found contrary to an extra chromosome 5 in the basal cell carcinoma. (globale-dermatologie.com)
  • Such structures are a result of chromosome fragments or entire acentric chromosomes which are lost during a cell division. (bvsalud.org)
  • The X,t(Y;22) female lacks the ZFY gene but does not exhibit the complex phenotype known as Turner's syndrome, arguing against the hypothesis that ZFY is the Turner's syndrome gene on the Y chromosome. (nih.gov)
  • We used a large number of existing chromosomal aberrations in the Scr homeotic gene to investigate the functions of the cis -acting elements within the endogenous gene. (nih.gov)
  • When not physically linked, the elements interact with elements on the homologous chromosome and cause derepression of its wild-type Scr gene. (nih.gov)
  • Using a transgenic assay, we identified at least five DNA fragments from the Scr gene that silence transcription from a reporter gene. (nih.gov)
  • The HUMARA gene contains two alleles located on the X chromosome. (globale-dermatologie.com)
  • Indeed, in a clone of cells, only one of the alleles is expressed, because the same X chromosome is inactivated by lyonisation{Allen, 1992}, in a clone, whereas in normal {Nakamura, 2001} skin (polyclonal), the inactivated HUMARA gene allele isn't always on the same X chromosome. (globale-dermatologie.com)
  • This gene is located on the X chromosome and one of the alleles is thus inactivated. (globale-dermatologie.com)
  • Single cells with two chromosomal exchanges were registered for three persons, while such cells were absent in the comparison group. (org.ua)
  • The mean number of cells with chromosomal markers, as well as the mean number of markers, was increased in both exposure groups. (cdc.gov)
  • 22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
  • After the 52 week exposure period, surviving rats were killed and spermatogonial cells were analyzed for chromosome aberrations. (cdc.gov)
  • Chromosomal breaks were not induced by N2O and halothane exposure. (cdc.gov)
  • Chromosomal aberrations and their mechanisms have been studied for many years in livestock. (schleiden-eifel.de)
  • The mechanisms of transmission of both discontinuous and continuous characteristics across the generations were unknown before Mendel's laws were explained at the turn of the 20th Century by the behavior of chromosomes in germ cells [ 2 , 3 ]. (biomedcentral.com)
  • Cyril Darlington pioneered plant cytogenetics in 1920-30 and made important advances in our understanding of mechanisms of chiasma formation and the behavior of sex chromosomes in meiosis [ 7 ]. (biomedcentral.com)
  • The frequency has been determined for the dicentrics and centric rings with an accompanying pair fragment for 100 analyzed metaphases. (org.ua)
  • The frequency of ICF cells with chromosomal aberrations seems to increase with passage number, 3,4,40 although this is not a consistent finding. (schleiden-eifel.de)
  • Improvements in the resolution of chromosome analysis has followed closely the introduction of innovative technology. (biomedcentral.com)
  • Also increased in the exposed groups were cells with multiple types of aberrations. (cdc.gov)
  • Thousands of chromosomal aberrations have been discovered in different types of cancer. (schleiden-eifel.de)
  • The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)
  • Our study provides an invaluable database revealing common and differential imbalance regions at specific chromosomes among Asian and Caucasian lung cancer patients. (biomedcentral.com)
  • In genetics, a polycentric chromosome is any chromosome featuring multiple centromeres. (wikipedia.org)
  • The authors conclude that long term N2O plus halothane inhalation causes chromosomal damage to spermatogonial cells of rats. (cdc.gov)
  • ZnO induced significant increase of the ratio of chromosomal aberrations as well as percentage of abnormal cells at concentrations of 1, 5, 10 and 20 mu g/mL in 24 h treatments. (comu.edu.tr)
  • Presented in conjunction with cells expressing a histone 2B-GFP fusion protein (H2B-GFP), we demonstrated how this method enabled chromosomal segregation errors to be tracked in cells as they progressed through cellular division that were later identified as either diploid or polyploid. (biomedcentral.com)
  • To overcome the limitations brought upon by cellular fixation, membrane-permeant DNA fluorophores were designed to stain DNA stoichiometrically in live-cells (supravital staining), enabling both the quantification of DNA content and the ability to track the movement of chromosomes over time. (biomedcentral.com)
  • The low density and small size of these bridges, and aneuploid chromosome number biologically persistent particles makes respiratory were observed. (cdc.gov)
  • When they looked at the levels of copy number aberration in [patient sot call chromothripsis they found 5/6 cases which were undiagnosed Li-Fraumein syndrome. (blogspot.com)
  • For a subset of 29 patients with fresh-frozen tisue, CGH was used to screen for chromosomal copy number aberrations. (biomedcentral.com)
  • It includes a small number of papers dealing with the detailed mechanism of the action of LSD on the deoxyribonucleic acid (DNA), the most important constituent of the chromosomes. (druglibrary.net)
  • The sex-determining function lies entirely in interval 1A, inasmuch as most XX individuals with descended testes and normal male external genitalia carry this small region of the Y chromosome. (nih.gov)