• 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)
  • 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)
  • Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (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)
  • Chromosome aberration frequencies were determined by scoring fragments and translocations using premature chromosome condensation. (nih.gov)
  • 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)
  • Micronuclei may originate from acentric chromosome fragments (i.e. lacking a centromere), or whole chromosomes that are unable to migrate to the poles during the anaphase stage of cell division. (re-place.be)
  • In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
  • B. This chromosomal aberration tends to manifest in males in the form of absent or delayed puberty, sterility, development of breast, etc. (schleiden-eifel.de)
  • Such structures are a result of chromosome fragments or entire acentric chromosomes which are lost during a cell division. (bvsalud.org)
  • 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)
  • Consequently, this in vitro method can detect both structural and numerical chromosome aberrations in cells that have undergone cell division during or after exposure to the test chemical. (re-place.be)
  • 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)
  • 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)
  • 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)
  • 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)
  • However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
  • They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
  • Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.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)
  • 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)
  • The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. (lookformedical.com)
  • Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.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)
  • 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)
  • 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)
  • This suggests that assays of these aberrations might yield relevant information on the biological effectiveness in high-LET radiotherapy. (nih.gov)
  • Our results show that, although both investigated radiation types induce similar numbers of IRIF per absorbed dose, only a small fraction of the DSB induced by the low-LET gamma-rays result in chromosome rearrangements and cell reproductive death, while this fraction is considerably enhanced for the high-LET alpha-radiation. (nih.gov)
  • 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)
  • Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • and Golbus, M S, "Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • In spite of the clear association between large ( de novo ) CNVs and other SVs (collectively known as chromosomal aberrations) with MCA/MR phenotypes [ 9 ], precise characterization of molecular mechanisms that cause disease in individual patients is often unknown. (biomedcentral.com)
  • 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)
  • 3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
  • Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
  • 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)
  • 19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
  • 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)
  • 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)
  • 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)
  • However, a thorough understanding of the molecular mechanisms that lead to MCA/MR as a result of chromosome aberrations is often lacking. (biomedcentral.com)
  • Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.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)
  • 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)
  • Subsequently, the introduction and relevance of new methods for high-resolution dissection of breakpoints of chromosomal aberrations is discussed. (biomedcentral.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)
  • In the following sections we first provide an overview of current methods for diagnostic detection and interpretation of chromosomal aberrations in MCA/MR patients. (biomedcentral.com)
  • 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)
  • 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)
  • To evaluate relationships between DNA-DSB, chromosome aberrations and the clinically most relevant effect of cell reproductive death, for ionizing radiations of different LET, dose-effect relationships were determined for the induction of these effects in cultured SW-1573 cells irradiated with gamma-rays from a Cs-137 source or with α-particles from an Am-241 source. (nih.gov)
  • Calculated RBE values derived for the linear components of dose-effect relations for gamma-H2AX foci, cell reproductive death, chromosome fragments and colour junctions are 1.0 ± 0.3, 14.7 ± 5.1, 15.3 ± 5.9 and 13.3 ± 6.0 respectively. (nih.gov)
  • Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
  • 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)
  • 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)
  • Distinction between structural and numerical chromosome aberrations requires combination with other techniques (e.g. (re-place.be)
  • 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)
  • Furthermore, the RBE values for the induction of the two types of chromosome aberrations are similar to those established for cell reproductive death. (nih.gov)
  • Thousands of chromosomal aberrations have been discovered in different types of cancer. (schleiden-eifel.de)
  • Telomeres are protective DNA structures that are located at the end of chromosomes, and proper telomere maintenance is indispensable for chromosomal integrity and overall genomic stability. (oncotarget.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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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 low density and small size of these bridges, and aneuploid chromosome number biologically persistent particles makes respiratory were observed. (cdc.gov)
  • The number of fetal fragments out of all cfDNA fragments is termed "fetal fraction", and reaches approximately 10% near the end of the first trimester. (identifai-genetics.com)
  • In genetics, a polycentric chromosome is any chromosome featuring multiple centromeres. (wikipedia.org)
  • They then fold themselves into the set of chromosomes that are so large that they can be seen in powerful microscopes. (whale.to)
  • Here, we review current methods for breakpoint identification and their impact on the interpretation of chromosome aberrations in patients with MCA/MR. In addition, we discuss opportunities to dissect disease mechanisms based on large-scale genomic technologies and studies in model organisms. (biomedcentral.com)
  • Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.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)
  • 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)