Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Mapping of the KARYOTYPE of a cell.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Induction and quantitative measurement of chromosomal damage leading to the formation of micronuclei (MICRONUCLEI, CHROMOSOME-DEFECTIVE) in cells which have been exposed to genotoxic agents or IONIZING RADIATION.
Tests of chemical substances and physical agents for mutagenic potential. They include microbial, insect, mammalian cell, and whole animal tests.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.
Warfare involving the use of NUCLEAR WEAPONS.
Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity.
Actual loss of portion of a chromosome.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Americium. A completely man-made radioactive actinide with atomic symbol Am, atomic number 95, and atomic weight 243. Its valence can range from +3 to +6. Because of its nonmagnetic ground state, it is an excellent superconductor. It is also used in bone mineral analysis and as a radiation source for radiotherapy.
White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A subdiscipline of genetics that studies RADIATION EFFECTS on the components and processes of biological inheritance.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Toxic alkylating agent used in industry; also as antineoplastic and research tool to produce chromosome aberrations and cancers.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Rate of energy dissipation along the path of charged particles. In radiobiology and health physics, exposure is measured in kiloelectron volts per micrometer of tissue (keV/micrometer T).
Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
The possession of a third chromosome of any one type in an otherwise diploid cell.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The relationship between the dose of administered radiation and the response of the organism or tissue to the radiation.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Radiation from sources other than the source of interest. It is due to cosmic rays and natural radioactivity in the environment.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Uncontrolled release of radioactive material from its containment. This either threatens to, or does, cause exposure to a radioactive hazard. Such an incident may occur accidentally or deliberately.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Derivatives and polymers of styrene. They are used in the manufacturing of synthetic rubber, plastics, and resins. Some of the polymers form the skeletal structures for ion exchange resin beads.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
An expression of the number of mitoses found in a stated number of cells.
The use of an aberrometer to measure eye tissue imperfections or abnormalities based on the way light passes through the eye which affects the ability of the eye to focus properly.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Positively charged particles composed of two protons and two NEUTRONS, i.e. equivalent to HELIUM nuclei, which are emitted during disintegration of heavy ISOTOPES. Alpha rays have very strong ionizing power, but weak penetrability.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A chemosterilant agent that is anticipated to be a carcinogen.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Penetrating, high-energy electromagnetic radiation emitted from atomic nuclei during NUCLEAR DECAY. The range of wavelengths of emitted radiation is between 0.1 - 100 pm which overlaps the shorter, more energetic hard X-RAYS wavelengths. The distinction between gamma rays and X-rays is based on their radiation source.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The ratio of radiation dosages required to produce identical change based on a formula comparing other types of radiation with that of gamma or roentgen rays.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.
An ancient country in western Asia, by the twentieth century divided among the former USSR, Turkey, and Iran. It was attacked at various times from before the 7th century B.C. to 69 B.C. by Assyrians, Medes, Persians, the Greeks under Alexander, and the Romans. It changed hands frequently in wars between Neo-Persian and Roman Empires from the 3d to 7th centuries and later under Arabs, Seljuks, Byzantines, and Mongols. In the 19th century Armenian nationalism arose but suffered during Russo-Turkish hostilities. It became part of the Soviet Republic in 1921, with part remaining under Turkey. (Webster's New Geographical Dictionary, 1988)
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.
The amount of radiation energy that is deposited in a unit mass of material, such as tissues of plants or animal. In RADIOTHERAPY, radiation dosage is expressed in gray units (Gy). In RADIOLOGIC HEALTH, the dosage is expressed by the product of absorbed dose (Gy) and quality factor (a function of linear energy transfer), and is called radiation dose equivalent in sievert units (Sv).
Aberrant chromosomes with no ends, i.e., circular.
The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty.
A genotoxicological technique for measuring DNA damage in an individual cell using single-cell gel electrophoresis. Cell DNA fragments assume a "comet with tail" formation on electrophoresis and are detected with an image analysis system. Alkaline assay conditions facilitate sensitive detection of single-strand damage.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.
ELECTROMAGNETIC RADIATION or particle radiation (high energy ELEMENTARY PARTICLES) capable of directly or indirectly producing IONS in its passage through matter. The wavelengths of ionizing electromagnetic radiation are equal to or smaller than those of short (far) ultraviolet radiation and include gamma and X-rays.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
Unstable isotopes of cobalt that decay or disintegrate emitting radiation. Co atoms with atomic weights of 54-64, except 59, are radioactive cobalt isotopes.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The degree of replication of the chromosome set in the karyotype.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The exposure to potentially harmful chemical, physical, or biological agents that occurs as a result of one's occupation.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
An agent thought to have disinfectant properties and used as an expectorant. (From Martindale, The Extra Pharmacopoeia, 30th ed, p747)
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the GAMMA RAYS wavelength range. The distinction between gamma rays and X-rays is based on their radiation source.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction.
Refraction of LIGHT effected by the media of the EYE.
Unstable isotopes of cesium that decay or disintegrate emitting radiation. Cs atoms with atomic weights of 123, 125-132, and 134-145 are radioactive cesium isotopes.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The ability of some cells or tissues to survive lethal doses of IONIZING RADIATION. Tolerance depends on the species, cell type, and physical and chemical variables, including RADIATION-PROTECTIVE AGENTS and RADIATION-SENSITIZING AGENTS.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
Toxic, volatile, flammable liquid hydrocarbon byproduct of coal distillation. It is used as an industrial solvent in paints, varnishes, lacquer thinners, gasoline, etc. Benzene causes central nervous system damage acutely and bone marrow damage chronically and is carcinogenic. It was formerly used as parasiticide.
An alkaloid isolated from Colchicum autumnale L. and used as an antineoplastic.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Agents that reduce the frequency or rate of spontaneous or induced mutations independently of the mechanism involved.
Chemicals especially for use on instruments to destroy pathogenic organisms. (Boucher, Clinical Dental Terminology, 4th ed)
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
Uranium. A radioactive element of the actinide series of metals. It has an atomic symbol U, atomic number 92, and atomic weight 238.03. U-235 is used as the fissionable fuel in nuclear weapons and as fuel in nuclear power reactors.
Structures within the CELL NUCLEUS of insect cells containing DNA.
The process by which a DNA molecule is duplicated.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
DNA present in neoplastic tissue.
Structures which are contained in or part of CHROMOSOMES.
An antineoplastic antibiotic produced by Streptomyces caespitosus. It is one of the bi- or tri-functional ALKYLATING AGENTS causing cross-linking of DNA and inhibition of DNA synthesis.
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
The measurement of radiation by photography, as in x-ray film and film badge, by Geiger-Mueller tube, and by SCINTILLATION COUNTING.
Established cell cultures that have the potential to propagate indefinitely.
The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Chemicals that kill or inhibit the growth of fungi in agricultural applications, on wood, plastics, or other materials, in swimming pools, etc.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.
The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
The dioptric adjustment of the EYE (to attain maximal sharpness of retinal imagery for an object of regard) referring to the ability, to the mechanism, or to the process. Ocular accommodation is the effecting of refractive changes by changes in the shape of the CRYSTALLINE LENS. Loosely, it refers to ocular adjustments for VISION, OCULAR at various distances. (Cline et al., Dictionary of Visual Science, 4th ed)
The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals.
Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Chemicals used to destroy pests of any sort. The concept includes fungicides (FUNGICIDES, INDUSTRIAL); INSECTICIDES; RODENTICIDES; etc.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
An aberration in which an extra chromosome or a chromosomal segment is made.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
Elements of limited time intervals, contributing to particular results or situations.
The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The aperture in the iris through which light passes.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
An assisted fertilization technique consisting of the microinjection of a single viable sperm into an extracted ovum. It is used principally to overcome low sperm count, low sperm motility, inability of sperm to penetrate the egg, or other conditions related to male infertility (INFERTILITY, MALE).
An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Female germ cells derived from OOGONIA and termed OOCYTES when they enter MEIOSIS. The primary oocytes begin meiosis but are arrested at the diplotene state until OVULATION at PUBERTY to give rise to haploid secondary oocytes or ova (OVUM).
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
The injection of very small amounts of fluid, often with the aid of a microscope and microsyringes.

Classification of human colorectal adenocarcinoma cell lines. (1/6775)

Eleven human colorectal adenocarcinoma cell lines established in this laboratory were classified into three groups based on morphological features (light and electron microscopy), modal chromosome number, and ability to synthesize carcinoembryonic antigen (CEA). Group 1 cell lines contained both dedifferentiated and differentiating cells growing in tight clusters or islands of epithelium-like cells; their modal chromosome number was about 47, and they synthesized small to moderate amounts of CEA. Group 2 cell lines were more dedifferentiated, were hyperdiploid, and synthesized small amounts of CEA. Group 3 cell lines were morphologically similar to those of Group 1 by light microscopy. They differed ultrastructurally by containing microvesicular bodies; the modal chromosome number varied from hyperdiploid to hypertriploid or they had bimodal populations of hypodiploid and hypertriploid cells, and they synthesized relatively large amounts of CEA. No correlation could be found between Broder's grade or Duke's classification of the original tumor and modal chromosome number or ability to synthesize CEA. These findings support Nowell's hypothesis that the stem line is different for each solid tumor, which makes it difficult to relate chromosomal changes to the initiation of the neoplastic state.  (+info)

Assaying potential carcinogens with Drosophila. (2/6775)

Drosophila offers many advantages for the detection of mutagenic activity of carcinogenic agents. It provides the quickest assay system for detecting mutations in animals today. Its generation time is short, and Drosophila is cheap and easy to breed in large numbers. The simple genetic testing methods give unequivocal answers about the whole spectrum of relevant genetic damage. A comparison of the detection capacity of assays sampling different kinds of genetic damage revealed that various substances are highly effective in inducing mutations but do not produce chromosome breakage effects at all, or only at much higher concentrations than those required for mutation induction. Of the different assay systems available, the classical sex-linked recessive lethal test deserves priority, in view of its superior capacity to detect mutagens. Of practical importance is also its high sensitivity, because a large number of loci in one fifth of the genome is tested for newly induced forward mutations, including small deletions. The recent findings that Drosophila is capable of carrying out the same metabolic activation reactions as the mammalian liver makes the organism eminently suitable for verifying results obtained in prescreening with fast microbial assay systems. An additional advantage in this respect is the capacity of Drosophila for detecting short-lived activation products, because intracellular metabolic activation appears to occur within the spermatids and spermatocytes.  (+info)

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (3/6775)

The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. Although sequential multiple hits in the MTS locus were documented in the development of intraurothelial precursor lesions, the MTS genes do not seem to represent a major target for p21-23 deletions in bladder cancer. Two additional tumor suppressor genes involved in bladder neoplasia located distally and proximally to the MTS locus within p22-23 and p11-13 regions respectively were identified. Several distinct putative tumor suppressor gene loci within the q12-13, q21-22, and q34 regions were identified on the q arm. In particular, the pericentromeric q12-13 area may contain the critical tumor suppressor gene or genes for the development of early urothelial neoplasia. Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large areas of urinary bladder mucosa. These losses could be found in a high proportion of urothelial tumors and in voided urine or bladder washing samples of nearly all patients with urinary bladder carcinoma.  (+info)

Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (4/6775)

Malignant glial tumors (anaplastic astrocytomas and glioblastomas multiforme) arise mostly either from the progression of low grade precursor lesions or rapidly in a de novo fashion and contain distinct genetic alterations. There is, however, a third subset of malignant gliomas in which genetic lesions remain to be identified. Following surgical resection, all gliomas appear to have an inherent tendency to recur. Comparative molecular analysis of ten primary malignant gliomas (three anaplastic astrocytomas and seven glioblastomas multiforme) with their recurrences identified two distinct subgroups of recurrent tumors. In one group, primary tumors harbored genetic aberrations frequently associated with linear progression or de novo formation pathways of glial tumorigenesis and maintained their genetic profiles upon recurrence. In the other subset with no detectable known genetic mutations at first presentation, the recurrent tumors sustained specific abnormalities associated with pathways of linear progression or de novo formation. These included loss of genes on chromosomes 17 and 10, mutations in the p53 gene, homozygous deletion of the DMBTA1 and p16 and/ or p15 genes and amplification and/or overexpression of CDK4 and alpha form of the PDGF receptor. Recurrent tumors from both groups also displayed an abnormal expression profile of the metalloproteinase, gel A, and its inhibitor, TIMP-2, consistent with their highly invasive behavior. Delineation of the molecular differences between malignant glioblastomas and their subsequent recurrences may have important implications for the development of rational clinical approaches for this neoplasm that remains refractory to existing therapeutic modalities.  (+info)

Specific chromosomal aberrations and amplification of the AIB1 nuclear receptor coactivator gene in pancreatic carcinomas. (5/6775)

To screen pancreatic carcinomas for chromosomal aberrations we have applied molecular cytogenetic techniques, including fluorescent in situ hybridization, comparative genomic hybridization, and spectral karyotyping to a series of nine established cell lines. Comparative genomic hybridization revealed recurring chromosomal gains on chromosome arms 3q, 5p, 7p, 8q, 12p, and 20q. Chromosome losses were mapped to chromosome arms 8p, 9p, 17p, 18q, 19p, and chromosome 21. The comparison with comparative genomic hybridization data from primary pancreatic tumors indicates that a specific pattern of chromosomal copy number changes is maintained in cell culture. Metaphase chromosomes from six cell lines were analyzed by spectral karyotyping, a technique that allows one to visualize all chromosomes simultaneously in different colors. Spectral karyotyping identified multiple chromosomal rearrangements, the majority of which were unbalanced. No recurring reciprocal translocation was detected. Cytogenetic aberrations were confirmed using fluorescent in situ hybridization with probes for the MDR gene and the tumor suppressor genes p16 and DCC. Copy number increases on chromosome 20q were validated with a probe specific for the nuclear receptor coactivator AIB1 that maps to chromosome 20q12. Amplification of this gene was identified in six of nine pancreatic cancer cell lines and correlated with increased expression.  (+info)

Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. (6/6775)

We have previously shown (K. Kas et al, Nat. Genet., 15: 170-174, 1997) that the developmentally regulated zinc finger gene pleomorphic adenoma gene 1 (PLAG1) is the target gene in 8q12 in pleomorphic adenomas of the salivary glands with t(3;8)(p21;q12) translocations. The t(3;8) results in promoter swapping between PLAG1 and the constitutively expressed gene for beta-catenin (CTNNB1), leading to activation of PLAG1 expression and reduced expression of CTNNB1. Here we have studied the expression of PLAG1 by Northern blot analysis in 47 primary benign and malignant human tumors with or without cytogenetic abnormalities of 8q12. Overexpression of PLAG1 was found in 23 tumors (49%). Thirteen of 17 pleomorphic adenomas with a normal karyotype and 5 of 10 with 12q13-15 abnormalities overexpressed PLAG1, which demonstrates that PLAG1 activation is a frequent event in adenomas irrespective of karyotype. In contrast, PLAG1 was overexpressed in only 2 of 11 malignant salivary gland tumors analyzed, which suggests that, at least in salivary gland tumors, PLAG1 activation preferentially occurs in benign tumors. PLAG1 over-expression was also found in three of nine mesenchymal tumors, i.e., in two uterine leiomyomas and one leiomyosarcoma. RNase protection, rapid amplification of 5'-cDNA ends (5'-RACE), and reverse transcription-PCR analyses of five adenomas with a normal karyotype revealed fusion transcripts in three tumors. Nucleotide sequence analysis of these showed that they contained fusions between PLAG1 and CTNNB1 (one case) or PLAG1 and a novel fusion partner gene, i.e., the gene encoding the transcription elongation factor SII (two cases). The fusions occurred in the 5' noncoding region of PLAG1, leading to exchange of regulatory control elements and, as a consequence, activation of PLAG1 gene expression. Because all of the cases had grossly normal karyotypes, the rearrangements must result from cryptic rearrangements. The results suggest that in addition to chromosomal translocations and cryptic rearrangements, PLAG1 may also be activated by mutations or indirect mechanisms. Our findings establish a conserved mechanism of PLAG1 activation in salivary gland tumors with and without 8q12 aberrations, which indicates that such activation is a frequent event in these tumors.  (+info)

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. (7/6775)

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.  (+info)

Structure and inheritance of some heterozygous Robertsonian translocation in man. (8/6775)

Banding studies in 25 Robertsonian translocations showed that all could be interpreted as stable dicentrics. The mechanism for their stability is likely to be the proximity of their centromeres but centromeric suppression could also have a role. In many of these dicentric translocations, discontinuous centromeric suppression, as indicated by chromatid separation at one of the centromeric regions, was observed in C-banded preparations. A further observation of undefined relation to the first was that the ratio of the two constitutive centromeric heterochromatin (CCH) regions from the component chromosomes of the translocations was variable in the same translocation type, e.g. t(13;14). It is proposed that this ratio may influence the segregation ratio. Abnormal spermatogenesis is suggested as the likely mechanism for the difference in the proportion of aneuploid offspring in the progeny of maternal and paternal heterozygotes. Neither of the t dic(21;21)s could be interpreted as isochromosomes. It is proposed that Robertsonian fusion translocations be defined as stable, dicentric, whole-arm translocations, with both centromeres in a median position and resulting in the loss of a small acentric fragment during this formation. It is suggested that they occur at high frequency between telocentric or, as in man, certain acrocentric chromosomes because of some intrinsic property of those chromosomes not possessed by metacentric chromosomes and mediated by interphase association of centromeres.  (+info)

Aim: Prediction of chromosomal disorders causing to severe pathological conditions can provide big benefits in early diagnosis and treatment. Adding a predeterminable feature to the cancer risk is very important in enlightening of the mechanisms inducing the disease, in elongation of survival times of the patients due to early diagnosis of the disease and in reducing mortality and morbidity by developing effective and economical treatment protocols. Studies using chromosomal aberrations as biological markers indicate that increasing aberration levels are important indicators in predisposition to the cancer. Aim of this study was to determine it this is feasible. One or several types of cancers were used in these studies reported in the literature. The increases in frequency of chromosome aberrations in Italy and Norwegian societies have been associated to some types of cancers ...
Objectives The effects of occupational and leisure-time exposures on the risk of acute myeloid leukemia (AML) were investigated with emphasis on clonal chromosome aberrations (CCA) and morphological subtypes.. Methods Consecutively diagnosed cases of AML (N=333) and 1 population referent per case were retrospectively included in the study. Information on worktasks, companies, and leisure-time activities was obtained with telephone interviews. Exposure probability and intensity were assessed by occupational hygienists. Associations were evaluated with logistic regression.. Results Exposure to organic solvents was associated with an increased risk of AML [low exposure: OR 1.5 (95% confidence interval (95% CI) 1.0-2.3, moderate-high exposure: OR 2.3 (95% CI 1.0-5.0)]. For exposure to solvents, but not to benzene, the OR was 1.2 (95% CI 0.69-2.0) for low and 2.7 (95% CI 1.0-7.3) for moderate-high exposure. The observed effects increased with intensity and duration of exposure. The estimated ...
In Nuclear Medicine, total body dose calculated after a technetium 99m labeled pharmaceutical administration was very low. Nevertheless, risks evaluation of the radio-induced genetics damages at low doses has become a public health priority. Peripheral lymphocytes can be used to study the effects of ionizing radiations on human cells. The induction by ionizing radiations of unstable structural chromosome aberrations (dicentrics, centrics, and fragments) in peripheral blood lymphocytes is considered to be a useful technique to complete physical dosimetry, and presently is the most advanced biological dosimeter. The aim of the study was to evaluate the potential cytogenetic effects of in vitro and in vivo exposure to technetium 99m (99mTc). Firstly, to evaluate the level of 99mTc activity able to produce a significant number of unstable chromosomal aberrations, specific relationships between activity and number of unstable chromosomal aberrations was established in vitro. The whole blood in vitro ...
Introduction: One of the important causes of male infertility is aberration at the chromosomes. Aim: The main purpose of this study was to determine the frequency and types of chromosomal aberration in infertile/sterile men whose samples were analyzed in the Center for Cytogenetics of Faculty of Medicine University of Sarajevo in the last four years. Methods: A total of 353 infertile/sterile men, between the ages of 22-55 years, referred for cytogenetic analysis to the Center for Genetics of Faculty of Medicine during the period 2013-2016. Karyotyping was performed on peripheral blood lymphocytes by using the Giemsa trypsin banding (GTG) technique. Results: The structural and numerical chromosomal aberration in infertility/ sterility of men found with the incidence of 6% (20/353). Out of the 20 patients with abnormal cytogenetic diagnosis, structural chromosome abnormalities were observed in 17 (85%) patients and 3 (15%) with numerical aberrations. The type of aberrations mostly found were ...
This report describes the results of an in vitro study for the detection of structural chromosomal aberrations in cultured mammalian cells. It supplements microbial systems insofar as it identifies potential mutagens that produce chromosomal aberrations rather than gene mutations (Scott et al, 1990). The method used followed that described in the OECD Guidelines for Testing of Chemicals (1997) No. 473 Genetic Toxicology: Chromosome Aberration Test and Method B10 of Commission Directive 2000/32/EC. The study design also meets the requirements of the UK Department of Health Committee on Mutagenicity Guidelines for the Mutagenicity Testing of Chemicals. Methods. Duplicate cultures of human lymphocytes, treated with the test material, were evaluated for chromosome aberrations at up to four dose levels, together with vehicle and positive controls. Four treatment conditions were used for the study, ie. experiment 1, 4 hours in the presence of an induced rat liver homogenate metabolising system (S9), ...
Chromosomal aberrations are efficiently induced by ionising radiation and contribute to a great extent to the development of cancer. Increased resolution of molecular cytogenetics along with the availability of cell lines and knockout mouse models sensitive to radiation, provide the basis for further unravelling of the mechanisms of formation of chromosomal aberrations. The proposal aims at studying the initial DNA damage, its repair and the biological factor influencing the ultimate yield of chromosomal aberrations. To reach this goal different strategies will be undertaken including exploitation of novel technologies, site-specific induction of DNA strand breaks and the use of cells with defined defects in repair. The outcome of this study will contribute to understanding of the mechanisms of chromosomal aberration formation and will ultimately help to extrapolate to the effects low doses and low dose-rates ...
1,3-Butadiene, a colorless gas regularly used in the production of plastics, thermoplastic resins, and styrene-butadiene rubber, poses an increased leukemia mortality risk to workers in this field. 1,3-Butadiene is also produced by incomplete combustion of motor fuels or by tobacco smoking. It is absorbed principally through the respiratory system and metabolized by several enzymes rendering 1,2:3,4-diepoxybutane (DEB), which has the highest genotoxic potency of all metabolites of 1,3-butadiene. DEB is considered a carcinogen mainly due to its high potential as clastogen, which induces structural chromosome aberrations such as sister chromatid exchanges, chromosomal breaks, and micronuclei ...
Detection of FMR1 triplet expansion with fragment analysis in premature ovarian failure patient.. Genetic investigation in the disorders of sexual differentiation: Mutation analysis of the SRY, desert hedgehog (DHH), androgen receptor (AR), 5α-reductase (SRD5A2) and WT1 genes in children with genital abnormalities.. 2. DNA microarray is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders or multiple congenital anomalies. Microarray analysis can identify candidate regions and genes in patients with unexplained mental retardations and developmental delays and discover novel microdeletion and microduplication syndromes. In cases with structural chromosome aberrations the identification of precise breakpoints and involved genes using microarray will allow the better understanding of pathogenesis and study of genotype-phenotype correlation.. 3. Bone disorders: craniosynostosis, achondro- and ...
The chromosome aberration test is designed to evaluate the potential of a test compound to induce structural chromosomal abnormalities such as breaks and exchanges.
TY - JOUR. T1 - Baseline chromosome aberrations in children. AU - Merlo, Domenico Franco. AU - Ceppi, Marcello. AU - Stagi, Elena. AU - Bocchini, Vittorio. AU - Sram, Radim J.. AU - Rössner, Pavel. PY - 2007/7/30. Y1 - 2007/7/30. N2 - Field studies conducted in children exposed to ionizing radiation and industrial chemicals have consistently reported increased frequencies of chromosome aberrations in those environmentally exposed than in referent subjects. Exposure(s) occurring during childhood - as well as in utero - may continue for several years, become chronic, and eventually play a relevant role in the etiology of childhood as well as adulthood cancers. Indeed the statistical association between CA frequency in peripheral blood lymphocytes and cancer risk detected in occupationally exposed adults supports the hypothesis that CA is a predictor of cancer. These facts suggest the usefulness of including CA as biomarkers of genetic damage in epidemiologic studies of children exposed to ...
This review explores the relationship between sperm chromosomal constitution and morphology. With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. Fluorescence in situ hybridization (FISH) analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia) is associated with a modest increase in the frequency of sperm chromosome abnormalities. However, FISH studies on some infertile men and mouse strains have suggested that certain types of morphologically abnormal
Chromosome aberrations are large-scale illegitimate rearrangements of the genome. They are indicative of DNA damage and of disease and are informative of nuclear architecture and of DNA damage processing pathways. In this talk I will present our mathematical approaches to analyze multiplex fluorescent in situ hybridization (mFISH)assays.
Results In BLM treated mice was observed huge perivascular lung fibrosis and significant skin involvement. 17 out of 20 mice developed acute renal involvement with mean proteinuria levels of 730±48 mg/dl. In comparison with the control mice, a significant increase in MN number was observed in BLM treated mice (57,8±4,4 vs 6,3±0,6, p,0.05). CREST staining was higher in MN derived from BLM treated mice (16,4±1,1 vs 3,7±0,7, p,0,025), indicating that in this group lymphocyte MN arised mainly from lagging chromosomes. In addition, an increased frequency of ring chromosome was observed in mice with greater skin fibrosis and renal involvement.A correlation between the presence of CREST stained MN and disease severity parameters as renal failure, lung and skin fibrosis was observed (respectively R=0,4095; R=0,7507 and R=0,9471). ...
Structural chromosome abnormalities occur when there is a change in the structure or parts of a chromosome. The total number of chromosomes is typically 46 total per cell. Structural chromosome abnormalities occur when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part. Ultimately, this leads to having too much or too little genetic material. This is a cause of some birth defects.. Each chromosome has many segments. These are usually divided into a short arm and a long arm of the chromosome. The short arm, which is the upper half of the chromosome, is known as the p arm. The long arm, which is the lower half of the chromosome, is the q arm. The centromere is the center part of a chromosome that appears pinched between the p and q arms.. ...
This study suggests that GBM can be categorized into genetic subgroups and validates aCGH for detecting CNAs in GBM. Our data also identified candidate loci for homozygous deletions and amplifications. We compared aCGH results with data obtained by chromosomal CGH, FISH, and quantitative PCR, and conclude that RR obtained from aCGH is a reliable estimate of relative copy number. Moreover, unlike chromosome CGH, aCGH detects homozygous loss and amplicon size and maps CNAs to precise locations in the genome.. Genetic subgroups. Our data suggest that there are genetically distinct subgroups within GBM (Fig. 7). We identified three provisional genetic subgroups: one with loss of chromosome 10 and gain of chromosome 7 (group C), a second with loss of chromosome 10 only (group B); and a third without chromosome 10 loss or chromosome 7 gain (group A). If the mechanisms that underlie malignant behavior in these genetic subgroups substantially differ, we expect that subgroups may behave differently and ...
It is well known that cancer is caused by gene abnormalities. There are many types of abnormalities in the genome of cancer cells, including gene fusion because of chromosome rearrangement. The discovery of a characteristic small chromosome, called Philadelphia chromosome, in chronic myeloid leukemia, is the first recurrent chromosome rearrangement to be seen in a human cancer [1]. This rearrangement was eventually identified as a translocation between chromosome 9 and 22 [2], resulting in the fusion of the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9, BCR-ABL1 [3]. Because many chromosomal abnormalities and fusion genes have been discovered by the development of experimental techniques, it has been shown that such fusion genes and chromosomal abnormalities are causes of cancer. Thus, the importance of chromosomal abnormalities and fusion genes in cancer has been recognized.. It is also known that fusion genes have a key role in oncogenesis in hematological tumors and sarcomas. ...
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Introduction. Absorbed dose is the most important physical quantity for evaluating potential biological response as a result of exposure to ionizing radiation (IR). Physical dosimetry is commonly performed by instruments that are sensitive to the physical effects of IR. However, in most cases involving real or suspected accidental exposure, people are not wearing a dosimeter and, as a result, physical dosimetry is not straightforward. For such situations, the study of early biological effects induced by an exposure to IR has been proposed as either a complementary or an alternative method for dose assessment (Downing, 2000; Amaral, 2002; Bonassi and Au, 2002; Ramalho and Nascimento, 1991; Ramalho et al., 1995; Voisin et al., 2001).. Biological dosimetry (biodosimetry) is based on the investigation of radioinduced biological effects (bioindicators) in order to correlate them with the radiation dose. Among the bioindicators employed in biodosimetry, the scoring of chromosome aberrations (CA) is ...
We report a cytogenetically highly complex adult FL grade 2 case that transformed to B-ALL with a karyotype involving eleven chromosomes, a dicentric derivative derived from parts of chromosomes 17 and 18 leading to partial monosomy 17p including TSG TP53 and three yet unreported chromosomal aberrations: t(X;20)(p21.3;q11.2), t(3;20)(q26.2;q12) and dic(17;18)(p11.2;p11.2).. Dicentric chromosomes are normally considered to be instable during mitosis; an idea that was not supported by this and previous own studies [10]. The role of dicentric chromosomes in cancer [11, 12] is still a field to be studied in more detail in future.. FL is regarded as a distinct entity by virtue of its characteristic cellular composition of follicle center cells (centroblasts and centrocytes), uniform immunophenotype (CD10+), and common cytogenetic background displaying the translocation t(14;18)(q32;q21) in most of the cases [13]. Since this primary immortalizing event does not render the cells malignant, it is ...
Normal human foreskin fibroblasts treated in vitro with a chemical carcinogen or irradiated with ultraviolet light subsequently acquired anchorage independent growth and an extended but finite capacity for exponential growth. All cell lines were derived from cells recovered from colonies that had grown in semisolid medium; cell lines originally treated with a chemical carcinogen produced nodules after s.c. inoculation into nude mice. G-banding analysis of 10 cell lines (including one ultraviolet light line) revealed that seven were chromosomally abnormal with structural and numerical chromosome alterations, one was characterized by a consistent trisomy, and the other two were normal diploid. Structural alterations consisted of chromosome deletions, translocations, and partial chromosome duplications. Although no common structural or numerical abnormality was detected, several structural alterations were observed involving chromosomes 1, 7, 11, and 22, where fgr, erb-B, H-ras-1, and sis ...
View Notes - Cyto-str from GENE 310 at Texas A&M. CYTOGENETICS; CHROMOSOMAL ABERRATIONS PART II: Structural Changes in Chromosomes There are 4 common types of structural aberrations; duplications,
BACKGROUND AND OBJECTIVE: Cytogenetic analysis of acute leukemia yields important information which has been demonstrated to be correlated to patient survival. A reference laboratory was created in order to perform karyotype analysis on all cases of acute leukemia enrolled in the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica) protocols. METHODS: From January 1990 to December 1995, 1115 samples of children with ALL or AML were sent in for cytogenetic analysis. The results of cell cultures were screened in the Reference Laboratory and then the fixed metaphases were sent to one of the six cytogenetic laboratories for analysis. RESULTS: The leukemic karyotypes of 556 patients were successfully analyzed. An abnormal clone was detected in 49% of cases of ALL and in 66% of AML. In ALL the most frequent abnormality was 9p rearrangement. Other recurrent abnormalities were t(9;22), t(4;11) and t(1;19). In AML t(8;21), t(15;17) and 11q23 rearrangement were the most frequent structural ...
Background: AML is a clinically and genetically heterogeneous clonal disorder. Approximately 50% are characterized by recurrent clonal chromosome aberrations which have contributed to the classification of disease and are recognized as important prognostic factors. AML patients who lack these recurrent structural abnormalities have been grouped as intermediate cytogenetic risk and are being further subcategorized by the sequence alterations that are being identified. A more complete understanding of the genetic changes that are relevant to the pathogenesis of AML will improve the classification of risk and ultimately better selection of therapy. Our hypothesis is that mutational profiling and analysis of patient outcomes will help better define the risk subgroups of patients and predict prognosis in patients with AML.. Methods: Archived DNA from 37 patients with various AML diagnoses were obtained with IRB approval (IRB#201502763). A panel of 30 commonly mutated genes in AML were designed ...
In terms of the sheer number of cases, genetic factors are the most important cause of congenital anomalies. It has been estimated that they cause approximately one third of all birth defects (see Fig. 19-1) and nearly 85% of anomalies with known causes. Any mechanism as complex as mitosis or meiosis may occasionally malfunction; thus, chromosomal aberrations are common and are present in 6% to 7% of zygotes. Many of these early embryos never undergo normal cleavage to become blastocysts. The changes may affect the sex chromosomes, the autosomes, or both (chromosomes other than sex chromosomes). In some instances, both kinds of chromosome are affected. Persons with chromosomal abnormalities usually have characteristic phenotypes, such as the physical characteristics of infants with Down syndrome. Numerical and structural changes occur in chromosome complements. - in Before We Are Born, Keith Moore and T. V. N. Persaud ...
Other reasons: Chromosome aberration study in vitro (Genetic Toxicity CAbvitro; Huntingdon Life Sciences, 2012, Study MOG0011) indicated the potential for HBPA to induce chromosome aberrations in mammalian cells. Although this result suggests a concern for genotoxic effects in humans, the available data do not permit a thorough assessment of the effect, nor are they sufficient to reach a conclusion on classification. In accordance with REACH Annex VIII Column 2 Section 8.4 it is considered that an in-vivo test assessing chromosome aberration in mammals is justified to more fully investigate the potential for harm to humans ...
Do You Have Chromosome Abnormality Disorders? Join friendly people sharing true stories in the I Have Chromosome Abnormality Disorders group. Find support forums, advice and chat with groups who share this life experience. Chromosome Abnormality Diso...
A hallmark of the transformed phenotype is altered chromosomal structure. The development and progression of lung cancer, one of the most common cancers, is driven by the interplay of genetic and epigenetic changes. Although there have been numerous studies on chromosomal aberrations in lung cancer, and cancer in general, broad assessment of chromatin structure information has been understudied, and its role in malignant transformation remains poorly characterized. Cancer progression is classified by tumor grade, which is determined by examining morphological changes that cells undergo as they de-differentiate. Given that chromosomal aberrations are well-documented in nearly all cancers, it is surprising that there is currently no information on the role of chromatin structure in the progression of cancer. We have identified chromatin-based patterns across different lung adenocarcinoma cancer grades.. To address the role of chromatin structure in the progression of cancer, we compared the ...
Investigating multiple samples (n={}25) from four patients we found an average of 5.6 ± 0.9 (mean ± SEM) chromosomal imbalances already present in DH. In the twelve DCIS lesions an average of 10.8 (±0.9) aberrations was identified with 14.8 (±0.8) aberrations in the four adjacent IDC lesions. The increasing number of chromosomal changes in parallel with the histopathological sequence corroborate the hypothesis, that the carcinomas may have developed through a sequential progression from normal to proliferative epithelium and eventually into carcinoma. However, heterogeneous results were identified in the multiple samples per entity from the same patient, demonstrated mainly in the DCIS samples in the chromosomal regions 6p, 9p, 11q, 16p and 17q, in the DH samples by 3p, 16p and 17q. This heterogeneous findings were most pronounced within the DH and was less in the DCIS and IDC samples. The only aberration consistently found in all samples - even in all DH samples - was amplification of the ...
SP 387/TL1 was tested in an in vitro cytogenetics assay using duplicate human lymphocyte cultures prepared from the pooled blood of three female donors in two independent experiments. Treatments covering a broad range of concentrations, separated by narrow intervals, were performed both in the absence and presence of metabolic activation (S-9). The test article was formulated in sterile water for injection (purified water) and the highest concentration used, 5000 μg/mL, is an acceptable maximum concentration for in vitro chromosome aberration studies according to current regulatory guidelines. The chromosome aberration assay was used to evaluate the clastogenic potential of the test article. In Experiment 1, treatment in the absence and presence of S-9 was for 3 hours followed by a 17 hour recovery period prior to harvest (3+17). The S-9 used was prepared from a rat liver post-mitochondrial fraction (S-9) from Aroclor 1254 induced animals. The test article concentrations for chromosome analysis ...
An analysis of the chromosomal aberrations and DNA ploidy in the interphase nuclei of seven human osteosacomas was preformed by double-target fluorescence in situ hybridization (FISH) and DNA cytofluorometry. The FISH study of the numerical aberrations in chromosomes 1 and 17 or the structural aberrations in chromosome arm 1p or 17p was carried out by using four locus specific DNA markers, with one pair consisting of 1q12 and 1p36 and the other pair consisting of the 17 cemtromere and 17p13.3. There was no significant differences in the percentage of deletions in chromosome 1 and 17 between osteosarcomas and normal tissues ...
Its more than just the number of miscarriages that determines the likelihood of structural chromosome abnormalities, say researchers from the Netherlands. In couples who are trying to conceive and who have had two or more miscarriages, young maternal age at the time of a second miscarriage, a history of three or more miscarriages, and a history of two or more miscarriages in siblings or parents of either partner make the couple more likely to be carriers of such anomalies, according to the results of a nested case-control study.
The chromosome damage in the peripheral circulating blood could be used as a biomarker to identify those with intestinal inflammation before they show any symptoms or suffer any distress. In the study, the chromosome damage could be detected in the blood before the onset of colitis in the mouse models the team studied, which were engineered to develop the inflammatory disorder, said Aya Westbrook, a graduate student of the UCLA Molecular Toxicology Interdepartmental Program and first author of the paper. She also noted that the severity of the disease correlated with higher levels of chromosome damage in the blood ...
Synopses of papers: The 187th Meeting of the Pathological Society of Great Britain and Ireland, The Robin Brook Centre, St. Bartholomews Hospital, London, 6-7 January 2005 ...
The advantage of microarray (array) over conventional karyotype for the diagnosis of fetal pathogenic chromosomal anomalies has prompted the use of microarrays in prenatal diagnostics. In this review we compare the performance of different array platforms (BAC, oligonucleotide CGH, SNP) and designs (targeted, whole genome, whole genome, and targeted, custom) and discuss their advantages and disadvantages in relation to prenatal testing. We also discuss the factors to consider when implementing a microarray testing service for the diagnosis of fetal chromosomal aberrations.
46,Y,t(X;14;7)(q11;p11;q?21),t(1;8)(q21;p21),t(2;20)(p13;q13),t(5;16) (p13;q12),der(15)t(15;18)(q15;p11),der(17)t(17;18)(q23;q21),der(18)t (15;18)t(17;18)/46,Y,t(X;10)(p22;q21),t(2;5)(p23;q11),t(6;12)(q23;q21)/46, XY,der(1)t(1;17)(p31;q11)del(1)(q23),dup(1)(q21q?41),?add(6)(q25),t(7;8) (p11;q24),t(10;11)(p11;q23),?t(11;18)(p14;p11),?t(13;16)(q32;q22),t(14;22) (q22;q11),der(17)t(1;17)(p31;q11)/46,XY,inv(6)(p11p21),t(14;15)(p11;q22), inv(17)(q11q25)/46,XY,t(1;3)(q21;p21),t(1;5;13)(q21;q22;q22),t(2;16) (p13;q13),t(11;18)(q21;q21),del(15)(q24 ...
During the course of chronic myeloid leukemia (CML) progression to blast crisis (BC) is thought to be caused by genetic instability such as cytogenetic aberrations in addition to the translocation t(9;22)(q34;q11). We have shown previously that major route ACA indicate an unfavorable outcome (Fabarius et al., Blood 2011). We now investigate whether there is a correlation in time between...
Principal Investigator:SUZUKI Fumio, Project Period (FY):1998 - 2000, Research Category:Grant-in-Aid for Scientific Research (B)., Section:一般, Research Field:環境影響評価(含放射線生物学)
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.: Recent molecular cytogenetic data have shown
Chromosomal Abnormality Definition - A chromosomal abnormality is when a person, embryo, or fetus is missing a chromosome, has an extra chromosome, or...
CHRTI : Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities                                                                                                       Subsequent chromosome analysis when results from peripheral blood are inconclusive
If your child is born with uncommon features, such as small size or abnormal physical appearance, you may benefit from genetic testing for chromosome abnormalities offered at the University of Miami Health System.
T-cell and B-Cell Activation - Components of the adaptive immune system with the main function to secrete antibodies upon activation. T-cells play a central role in controlling and shaping the immune response. Both cell types are critical for the development of several diseases.. According to recent research tumor induced T cell exhaustion plays a role in cancer relapse. Epigenetic regulation is essential for differentiation and function of immune cells and aberrations may result in loss of immune function, which might contribute to disease.. ...
Inclusion Criteria: - Patients must have a histologically confirmed diagnosis of Ph+ ALL - Detection of one of the following must be present: - t(9;22)(q34;q11) or 3-way variant by metaphase cytogenetics - Breakpoint cluster region (BCR)-Abelson (ABL) positive status by molecular analysis with qualitative polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH) - Patients must have primary refractory ALL based on failure to achieve a hematologic or molecular remission after induction therapy with dasatinib and steroids or dasatinib and chemotherapy, or have relapsed after treatment with a tyrosine kinase inhibitor with or without chemotherapy - Note: Prior course of dasatinib and steroid induction therapy should have included dasatinib 140mg PO daily on days 1-84 and prednisone 60mg/m^2 (capped at 120mg, or equivalent steroid dose) on days 1-28; if patients were unable to tolerate full steroid dose during induction therapy they will still be eligible - Note: Patients with ...
Our research aims to unravel the biological significance that the different levels of DNA compaction structures and components have on chromosome condensation and DNA processes in the nucleus. We believe that this research will contribute to the understanding of different important themes like cell division, cancer, stem cells, chromosome alterations, fertility and, plant and animal, breeding.
Karyotyping Karyotype Chromosomal aberration Size-ordered chart of the metaphase chromosomes of an individual cell Chromosomal aberration A mutation that is large enough to see under a light microscope
Acute myeloid leukemia (AML) represents a heterogeneous group of aggressive myeloid malignancies characterized by the accumulation of blasts in the bone marrow. The prognosis of AML is variable, likely reflecting its diversity at a genetic level. The pathogenesis of AML has not been completely defined; however it is clear that recurrent chromosomal abnormalities (e.g., translocations and numeric abnormalities) and genetic events (e.g., point mutations and indels) are necessary for disease development. Genetic changes are diverse and consist of large genomic changes such as rearrangements and ploidy anomalies, as well as submicroscopic changes, including point mutations and indels. Few studies have correlated cytogenetically detected anomalies with molecularly detected mutations in AML. Here we describe our experience using a hematological next generation sequencing (heme-NGS) panel in conjunction with conventional cytogenetic studies to interrogate diagnostic AML specimens in a routine clinical ...
I have read recently that at high concentrations of LSD produced chromosome damage and was mutagenic. So its a weakly mutagenic. Does that mean at the concentration people take it at it would do slight damage or what about for people who take it a lot.
Learn more about Chromosomal Abnormalities at Grand Strand Medical Center Main Page Risk Factors Symptoms ...
TY - JOUR. T1 - High-Resolution Genomic Arrays Facilitate Detection of Novel Cryptic Chromosomal Lesions in Myelodysplastic Syndromes. AU - OKeefe, Christine L.. AU - Tiu, Ramon. AU - Gondek, Lukasz P.. AU - Powers, Jennifer. AU - Theil, Karl S.. AU - Kalaycio, Matt. AU - Lichtin, Alan. AU - Sekeres, Mikkael A.. AU - Maciejewski, Jaroslaw P.. PY - 2007/2/1. Y1 - 2007/2/1. N2 - Objective: Unbalanced chromosomal aberrations are common in myelodysplastic syndromes and have prognostic implications. An increased frequency of cytogenetic changes may reflect an inherent chromosomal instability due to failure of DNA repair. Therefore, it is likely that chromosomal defects in myelodysplastic syndromes may be more frequent than predicted by metaphase cytogenetics and new cryptic lesions may be revealed by precise analysis methods. Methods: We used a novel high-resolution karyotyping technique, array-based comparative genomic hybridization, to investigate the frequency of cryptic chromosomal lesions in a ...
This test measures structural chromosomal aberrations (both chromosome- and chromatid-type) in dividing spermatogonial germ cells and is, therefore, expected to be predictive of induction of heritable mutations in these germ cells. The purpose of the in vivo mammalian spermatogonial chromosomal aberration test is to identify those chemicals that cause structural chromosomal aberrations in mammalian spermatogonial cells (1) (2) (3). In addition, this test is relevant to assessing genetoxicity because, although they may vary among species, factors of in vivo metabolism, pharmacokinetics and DNA-repair processes are active and contribute to the response. The original Test Guideline 483 was adopted in 1997. This modified version of the Test Guideline reflects many years of experience with this assay and the potential for integrating or combining this test with other toxicity or genotoxicity studies.
Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic techniques, Spectral karyotyping (SKY), and FISH failed to detect abnormalities. We performed a high resolution genome-wide screening for submicroscopic chromosomal rearrangements using array-CGH on 41 children with idiopathic mental retardation (MR) and dysmorphic features. The commercially available microarray from Spectral Genomics contained 2600 BAC clones spaced at approximately 1 Mb intervals across the genome. Standard chromosome analysis (|450 bands per haploid genome) revealed no chromosomal rearrangements. In addition, multi-subtelomeric FISH screening in 30 cases and SKY in 11 patients did not
Detection of numerical chromosomal aberrations in paraffin-embedded malignant mesothelioma by non-isotopic **in situ** hybridization ...
Clonal chromosomal changes were detected in three of five sporadic angiomyolipomas of the kidney irrespective of a solitary or multifocal appearance of this benign tumor type. No specific chromosomal changes have been identified. Including the cytogenetic data of the four renal angiomyolipomas repor …
TY - JOUR. T1 - Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis. AU - Paietta, Elisabeth M.. AU - Papenhausen, Peter. AU - Gucalp, Rasim A.. AU - Wiernik, Peter H.. PY - 1988. Y1 - 1988. N2 - A new reciprocal, apparently balanced translocation between chromosomes 12 and 19, t(12;19)(q13;q13.3), was detected in 5% ( 3 59) of patients with FAB M1 or M2 acute nonlymphocytic leukemia. In either case, this translocation was part of complex but different cytogenetic abnormalities. None of the patients had a significant response to therapy. In one instance, however, the translocation was found at first relapse after 2 years of complete remission, and no information regarding the karyotype at disease onset was available. Hematologically common to these patients were marked marrow erythroid hyperplasia and severely abnormal erythropoiesis despite normal serum B12 and folate levels. A direct association between t(12;19) and these ...
Pretreatment cytogenetics is a known predictor of outcome in hematologic malignancies. However, its usefulness in adult acute lymphoblastic leukemia (ALL) is generally limited to the presence of the Philadelphia (Ph) chromosome because of the low incidence of other recurrent abnormalities. We present centrally reviewed cytogenetic data from 1522 adult patients enrolled on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial. The incidence and clinical associations for more than 20 specific chromosomal abnormalities are presented. Patients with a Ph chromosome, t(4;11)(q21;q23), t(8;14)(q24.1;q32), complex karyotype (5 or more chromosomal abnormalities), or low hypodiploidy/near triploidy (Ho-Tr) all had inferior rates of event-free and overall survival when compared with other patients. In contrast, patients with high hyperdiploidy or a del(9p) had a significantly improved outcome. Multivariate analysis demonstrated that the prognostic relevance of t(8;14),
Leukaemia is often associated with genetic alterations such as translocations, amplifications and deletions, and recurrent chromosome abnormalities are used as markers of diagnostic and prognostic relevance. However, a proportion of acute myeloid leukaemia (AML) cases have an apparently normal karyotype despite comprehensive cytogenetic analysis. Based on conventional cytogenetic analysis of banded chromosomes, we selected a series of 23 paediatric patients with acute myeloid leukaemia and performed whole genome array comparative genome hybridization (aCGH) using DNA samples derived from the same patients. Imbalances involving large chromosomal regions or entire chromosomes were detected by aCGH in seven of the patients studied. Results were validated by fluorescence in situ hybridization (FISH) to both interphase nuclei and metaphase chromosomes using appropriate bacterial artificial chromosome (BAC) probes. The majority of these copy number alterations (CNAs) were confirmed by FISH and found ...
We report the results of a pilot microsatellite marker screen for duplications and deletions in 27 children with developmental delay and multiple congenital anomalies. Among these 27 patients, two children were diagnosed with newly characterised chromosome aberrations to account for their mental retardation and dysmorphic features. The identification of two deletions in 27 cases gave a detection rate of 7.5% without adjustment for marker informativeness (95% confidence interval 1-24%) and an aberration frequency of 18% if marker informativeness for monosomy was taken into account. The figure of 18% is higher than previous estimates of the frequency of subtelomeric chromosome abnormalities (5-10%) in children with idiopathic mental retardation17 19 although the confidence interval is overlapping.. In spite of the limited informativeness of the marker panel used in this pilot project, microsatellite markers detected two submicroscopic aberrations.17 20 22 The use of genetic marker analysis allows ...
Background: When abnormalities are found during the anatomy scan most patients are offered amniocentesis and conventional karyotyping, using Giemsa (G)-banding of metaphase chromosomes to detect aneuploidies and large structural changes in the prenatal diagnosis. The use of fluorescent in situ hybridization (FISH) reduces the time to obtain a result because culture is not necessary, but can only detect a limited number of prespecified targets. Small studies have shown that array comparative genomic hybridization (aCGH) can detect all unbalanced chromosomal abnormalities as well as smaller deletions and duplications that cannot be detected with routine cytogenetic analysis. Should aCGH screening be used instead of karyotyping to diagnose prenatal chromosomal abnormalities in pregnant patients with abnormal ultrasound? Methods: An exhaustive search of available medical literature from the past 5 years was conducted using Medline-OVID, CINAHL, Web of Science. Key words included: comparative genomic
Our results show that markers of exposure to naphthalene in young children are associated with translocations and stable chromosomal aberrations in lymphocytes in a dose-related manner. Childhood is a period of heightened susceptibility when exposure to environmental toxins can result in molecular changes that act as determinants for later disease. Exposures to low levels of common environmental toxins such as naphthalene during key periods of development may increase long-term risk of disease. Chromosomal aberrations in lymphocytes are used as a biodosimeter of protracted personal exposure to low-dose radiation (37) and of occupational exposure to genotoxins (31). Air levels of PAHs predict chromosomal aberrations in occupationally exposed adults (30). In studies on older children (8-19 years), frequencies of chromosomal aberrations correlate with levels of ambient pollutants (40). Translocations, the most persistent aberrations (half-life, 2-4 years), are a biodosimeter of low-dose clastogenic ...
Mosaic structural chromosomal abnormalities observed along the trophoblast-mesenchyme-fetal axis, although rare, pose a difficult problem for their prognostic interpretation in prenatal diagnosis. Additional issues are raised by the presence of mosaic imbalances of the same chromosome showing different sizes in the different tissues, that is, deletions and duplications in the cytotrophoblast and mesenchyme of chorionic villi (CV). Some of these cytogenetic rearrangements originate from the post-zygotic breakage of a dicentric chromosome or of the product of its first anaphasic breakage. Selection of the most viable cell line may result in confined placental mosaicism of the most severe imbalance, favoring the presence of the cell lines with the mildest duplications or deletions in the fetal tissues. We document three cases of ambiguous results in CV analysis due to the presence of different cell lines involving structural rearrangements of the same chromosome which were represented differently ...
TY - JOUR. T1 - Complex chromosome rearrangements. Report of a new case and literature review. AU - Pai, G. S.. AU - Thomas, G. H.. AU - Mahoney, W.. AU - Migeon, Barbara R. PY - 1980. Y1 - 1980. N2 - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.. AB - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to ...
It was concluded that H-CB is not mutagenic in the bacterial reverse mutation assay (JAPAN: Guidelines for Screening Mutagenicity Testing Of Chemicals) carried out under the experimental conditions. The test material did not induce any statistically significant, dose-related increases in the frequency of cells with structural or numerical chromosome aberrations either in the presence or absence of a liver enzyme metabolising system or after various exposure times. The test material was therefore considered to be non-c1astogenic to CHL cells in vitro (OECD Guideline 473 (In vitro Mammalian Chromosome Aberration Test)). The test material was not mutagenic to L5178Y cells following a 4-hour exposure in the absence and presence of metabolic activation under the conditions of the test. However, the test material was considered to be mutagenic to L5178Y cells following a 24-hour exposure in the absence of metabolic activation at dose levels with significant levels of test material-induced toxicity ...
Objective: To investigate underlying genetic events associated with complex DNA ploidy breast carcinomas.. Methods: Screening for chromosome imbalances was carried out using comparative genomic hybridisation (CGH) in 14 frozen samples of tumour from a series of 13 breast cancer patients with multiploid (n = 11) and hypertetraploid (n = 2) tumours. They had previously been analysed by DNA flow cytometry and also assessed immunohistochemically for p53 tissue expression. Ploidy status was determined on frozen samples using the Multicycle software program.. Results: The total number of copy gains (n = 242) was significantly greater than the number of copy losses (n = 51). The mean (SD) number of gains per sample was 17.3 (5.7), and of losses, 3.6 (4.2) (p = 0.0001). Gains of chromosomal regions at 1q (14/14; 100%), 7q (12/14; 85.7%), and 3q (11/14; 78.6%), as well as 1p, 2q, 5p, 8q, and 13q (10/14; 71.4%) were the most frequent aberrations in this series. Losses were most commonly found on 17p ...
However, as the eye ages from the young adulthood (20-30 years) to the elderly (60-80 years) it becomes more aberrated on average. In particular, the spherical aberration (SA) of the eye tends to increase in older eyes. Similarly, a significant increment of horizontal coma and other third-order aberrations has been reported. In a previous work (Artal et al., 2002), we showed that a progressive disruption of the corneal-internal aberrations balance was the primary source of increment of ocular aberrations in older eyes. However, the underlying causes of this mechanism remain unclear. To answer the question, it is necessary to improve our understanding about how ocular aberrations are generated and how the compensation mechanism works. Ocular aberrations may have an intrinsic origin related to the shape of the surfaces or the profile of the refractive index, or an angular origin associated with the alignment of the optical components. The combination of intrinsic factors makes the cornea of a ...
The aim of this work was to analyze the relationship between polymorphisms of DNA repair gene XPD Lys751Gln and frequency and spectrum of chromosome aberrations
Patients with chronic lymphocytic leukemia (CLL) harboring TP53 aberrations (TP53abs; chromosome 17p deletion and/or TP53 mutation) exhibit an unfavorable clinical outcome. Chromosome 8 abnormalities, namely losses of 8p (8p-) and gains of 8q (8q+) have been suggested to aggravate the outcome of patients with TP53abs. However, the reported series were small, thus hindering definitive conclusions. To gain insight into this issue, we assessed a series of 101 CLL patients harboring TP53 disruption. The frequency of 8p- and 8q+ was 14.7% and 17.8% respectively. Both were associated with a significantly (P , 0.05) higher incidence of a complex karyotype (CK, ,= 3 abnormalities) detected by chromosome banding analysis (CBA) compared to cases with normal 8p (N-8p) and 8q (N-8q), respectively. In univariate analysis for 10- year overall survival (OS), 8p- (P = 0.002), 8q+ (P = 0.012) and CK (P = 0.009) were associated with shorter OS. However, in multivariate analysis only CK (HR = 2.47, P = 0.027) ...
Here we describe a rare case of an apparently balanced karyotype of 46, XY, t(1;22;4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex chromosomal rearrangement (CCR) referred to ou
TY - JOUR. T1 - Whole Exome and Transcriptome Sequencing in 1042 Cases Reveals Distinct Clinically Relevant Genetic Subgroups of Follicular Lymphoma. AU - Li, Xiang. AU - Kositsky, Rachel. AU - Reddy, Anupama. AU - Love, Cassandra. AU - Naresh, Kikkeri. AU - Koff, Jean L.. AU - Nystrand, Ilja. AU - Leppä, Sirpa. AU - Pasanen, Annika. AU - Karjalainen-Lindsberg, Marja Liisa. AU - Dunkel, Johannes. AU - Kovanen, Panu. AU - Qin, Qiu. AU - Bhagat, Govind. AU - Leeman-Neill, Rebecca J.. AU - Goswami, Rashmi S.. AU - Wildeman, Sarah. AU - Delabie, Jan. AU - Burack, Richard. AU - Evans, Andrew G.. AU - Amador, Catalina. AU - Yuan, Ji. AU - Qureishi, Hina Naushad. AU - Li, Shaoying. AU - Xu, Jie. AU - Yin, C. Cameron. AU - Gang, Anne Ortved. AU - Norgaard, Peter H.. AU - Pedersen, Mette. AU - Chan, Jason Yongsheng. AU - Cheah, Daryl Ming Zhe. AU - Ong, Shin Yeu. AU - Cheng, Chee Leong. AU - Lee, Lianne. AU - Paulua, Felik. AU - Ondrejka, Sarah L.. AU - Hsi, Eric D.. AU - Czader, Magdalena. AU - Wang, ...
Chromosome changes in the bone marrow (BM) of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS). Comprehensive cytogenetic evaluations may give evidence of the real pathogenetic role of these changes in cases with cytopenia without morphological signs of MDS. Chromosome anomalies were found in the BM of three patients, without any morphological evidence of MDS: 1) an acquired complex rearrangement of chromosome 21 in a boy with severe aplastic anaemia (SAA); the rearrangement caused the loss of exons 2-8 of the RUNX1 gene with subsequent hypoexpression. 2) a constitutional complex rearrangement of chromosome 21 in a girl with congenital thrombocytopenia; the rearrangement led to RUNX1 disruption and hypoexpression. 3) an acquired paracentric inversion of chromosome 1, in which two regions at the breakpoints were shown to be lost, in a boy with aplastic anaemia; the MPL gene, localized in chromosome 1 short arms was not mutated neither disrupted, but
Comparative genomic hybridization (CGH) is a technique used to detect unbalanced chromosome rearrangements based on the use o f in situ hybridization of differentially labeled DNA. This technique can be used to analyze complex clinical cases which have constitutional chromosomal abnormalities that do not lend themselves to routine chromosomal analysis. CGH was examined in order to develop a reliable and reproducible protocol that can be used as an additional diagnostic tool in Shodair Hospitals clinical lab. CGH involves the isolation o f both test and reference DNA and the differentially labeling o f the different DNA with fluorescent probes. Then those samples o f DNA were hybridized onto a normal metaphase spread. The slide was examined under a fluorescent microscope and analyzed using Perceptive Scientific Instruments MacProbe fluorescent imaging software. It appears that a slightly modified version o f the published Vysis Protocol (1998) yields the best CGH results in our clinical diagnostic
High hyperdiploid acute lymphoblastic leukemia ( ALL) is one of the most common malignancies in children. It is characterized by gain of chromosomes, typically +X, +4, +6, +10, +14, +17, +18, and +21, +21; little is known about additional genetic aberrations. Approximately 20% of the patients relapse; therefore it is clinically important to identify risk-stratifying markers. We used SNP array analysis to investigate a consecutive series of 74 cases of high hyperdiploid ALL. We show that the characteristic chromosomal gains are even more frequent than previously believed, indicating that karyotyping mistakes are common, and that almost 80% of the cases display additional abnormalities detectable by SNP array analysis. Subclonality analysis strongly implied that the numerical aberrations were primary and arose before structural events, suggesting that step-wise evolution of the leukemic clone is common. An association between duplication of 1q and +5 was seen ( P = 0.003). Other frequent ...
TY - CHAP. T1 - Induction of chromosome damage by ultraviolet light and caffeine. T2 - Correlation of cytogenetic evaluation and flow karyotype. AU - Cremer, C.. AU - Cremer, T.. AU - Gray, Joe. PY - 1982. Y1 - 1982. UR - http://www.scopus.com/inward/record.url?scp=0020062161&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0020062161&partnerID=8YFLogxK. M3 - Chapter. C2 - 7075394. AN - SCOPUS:0020062161. VL - 2. SP - 287. EP - 290. BT - Cytometry. ER - ...
Results Screening 16 different regions we detected additional genomic aberrations in 92% of the cases of mantle cell lymphoma. Common gains included 3q26, 8q24, 15q23, 7p15, and common losses 13q14, 11q22-q23, 9p21, 1p22, 17p13, 6q27, and 8p22. Deletions 8p22, 9p21, 13q14, and gain of 7p15 were associated with evidence of clonal heterogeneity. While there was no correlation of additional genomic aberrations and VH-mutation status, gain of 15q23 and deletion 6q27 were associated with lower disease stage (p=0.01 and p=0.04, respectively). Patients with deletion 13q14 had shorter overall survival times (p=0.01), and there was a strong trend towards inferior outcome in patients with deletion 9p21 (p=0.07). In multivariable analysis, loss of 13q14 and an International Prognosis Index score ≥ 3 turned out to be significantly associated with inferior clinical outcome (p=0.002 and p,0.001, respectively). ...
Using an integrative genomics approach called amplification breakpoint ranking and assembly analysis, we nominated KRAS as a gene fusion with the ubiquitin-conjugating enzyme UBE2L3 in the DU145 cell line, originally derived from prostate cancer metastasis to the brain. Interestingly, analysis of tissues revealed that 2 of 62 metastatic prostate cancers harbored aberrations at the KRAS locus. In DU145 cells, UBE2L3-KRAS produces a fusion protein, a specific knockdown of which attenuates cell invasion and xenograft growth. Ectopic expression of the UBE2L3-KRAS fusion protein exhibits transforming activity in NIH 3T3 fibroblasts and RWPE prostate epithelial cells in vitro and in vivo. In NIH 3T3 cells, UBE2L3-KRAS attenuates MEK/ERK signaling, commonly engaged by oncogenic mutant KRAS, and instead signals via AKT and p38 mitogen-activated protein kinase (MAPK) pathways. This is the first report of a gene fusion involving the Ras family, suggesting that this aberration may drive metastatic ...
Translocations of a whole chromosome or a chromosome arm have been reported in both normal and abnormal liveborns. Often the abnormal phenotypes could not be explained by the genetic defects of the specific chromosome findings. Warburton et al. described an autosomal anomaly, tdic(12;14), showing gonadal dysgenesis; Pallister et al. described a patient with multiple congenital anomalies and mental retardation who had a normal karyotype in her fibroblasts. The whole chromosome translocation (6;19) was found in her lymphocytes only. Various genetic explanations have been proposed, including undetected lesions, position effects, mutations at the sites of breakage and union, and aneusomy by recombination. Perhaps the whole chromosome translocation per se were not responsible for the malformations, since they were not necessarily found in cells of the deformed organs, or if they were, the abnomalities were not always explained by aberrations of the specific chromsomes involved in the ...
CMAMT : Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities   Diagnosing chromosomal causes for fetal death   Determining recurrence risk of future pregnancy losses   Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected previously by other methods such as conventional chromosome and FISH studies   Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray
CMAMT : Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities   Diagnosing chromosomal causes for fetal death   Determining recurrence risk of future pregnancy losses   Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected previously by other methods such as conventional chromosome and FISH studies   Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray
Stocks: Flies were raised on a cornmeal-molasses-yeast-agar medium containing Tegosept and propionic acid at 25°. Mutations and chromosome aberrations are described in Lindsley and Zimm (1992) unless otherwise noted. brm1 and brm2 are described in Kennison and Tamkun (1988) and Brizuela et al. (1994). Df(3L)th102 deletes polytene chromosome region 72A1;72D12, including brm. The FLP and FRT stocks (Xu and Rubin 1993), UAS-lacZ reporter 4-2-4B (Brand and Perrimon 1993), and IJ3 and 69B GAL4 insertion lines (Brand and Perrimon 1993) used in this study were obtained from the Bloomington Stock Center (Indiana University, Bloomington, IN). The e16E GAL4 insertion line is described in Harrison et al. (1995). y w P[ry+, hsFLP]12 was generously provided by T.-B. Chou and N. Perrimon.. Production of antibodies against the BRM protein: Polyclonal rabbit antisera were raised against glutathione S-transferase (GST) fusion proteins containing amino acids 1504-1638 or 505-775 of the BRM protein (Figure 1). ...
The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell li
In this study, we compared genetic instability in 70 breast carcinomas analyzed by two different methods, cytogenetics and flow cytometry. This comparison showed that each method has its strengths and weaknesses. Flow cytometry detected aneuploidy in 60% of cases, but missed most of the cytogenetically near-diploid clones and clones with simple chromosomal changes. Cytogenetics revealed chromosomal abnormalities in 50% of the samples. Simple chromosomal changes and multiploidy were readily detected by this method, but some of the clones with a high DNA index by flow cytometry were missed. The two methods gave corresponding results in the majority of cases (54%). In 17 cases, both methods detected matching abnormal clones (r = 0.93) but the DNA index was higher than predicted by the chromosome numbers. Most of the discrepancies might be explained by tumor heterogeneity and insufficient numbers of cells available for cytogenetic analyses. In seven cases, single-cell abnormalities were found that ...
The malignant cells in many patients with leukemia, lymphoma, or another malignant hematologic disease have acquired clonal chromosomal abnormalities. Some specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morpho
New research suggests that there may be five distinct subgroups of head and neck cancer in which specific genetic profiles may be utilized to guide treatment decisions in patients.
Chromosomal aberrations in solid tumors appear in complex patterns. It is important to understand how these patterns develop, the dynamics of the process, the temporal or even causal order between aberrations, and the involved pathways. Here we present network models for chromosomal aberrations and algorithms for training models based on observed data. Our models are generative probabilistic models that can be used to study dynamical aspects of chromosomal evolution in cancer cells. They are well suited for a graphical representation that conveys the pathways found in a dataset. By allowing only pairwise dependencies and partition aberrations into modules, in which all aberrations are restricted to have the same dependencies, we reduce the number of parameters so that datasets sizes relevant to cancer applications can be handled. We apply our framework to a dataset of colorectal cancer tumor karyotypes. The obtained model explains the data significantly better than a model where independence ...
Most living cells have a defined number of chromosomes: Human cells, for example, have 23 pairs. As cells divide, they can make errors that lead to a gain or loss of chromosomes, which is usually very harmful.. For the first time, MIT biologists have now identified a mechanism that the immune system uses to eliminate these genetically imbalanced cells from the body. Almost immediately after gaining or losing chromosomes, cells send out signals that recruit immune cells called natural killer cells, which destroy the abnormal cells.. The findings raise the possibility of harnessing this system to kill cancer cells, which nearly always have too many or too few chromosomes.. If we can re-activate this immune recognition system, that would be a really good way of getting rid of cancer cells, says Angelika Amon, the Kathleen and Curtis Marble Professor in Cancer Research in MITs Department of Biology, a member of the Koch Institute for Integrative Cancer Research, and the senior author of the ...
Hospital statistics for Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality including various hospitalization stats.
Treatments for Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Because leukemia clone-specific chromosomal abnormalities are present at birth in children who later develop leukemia, it has been hypothesized that maternal factors, including nutrition during pregnancy, might affect the risk of acute lymphoblastic leukemia (ALL) among young children. We have evalu …
Chromosome abnormalities can be classified as either structural or numerical. Numerical abnormalities include duplications or deletion of a pair of chromosomes, such as Down Syndrome. Structural abnormalities include missing, extra or switched parts of a chromosome. Discover the latest research on chromosomal abnormalities here. ...
(2005) Lai et al. Bioinformatics. MOTIVATION: Array Comparative Genomic Hybridization (CGH) can reveal chromosomal aberrations in the genomic DNA. These amplifications and deletions at the DNA level are important in the pathogenesi...
This is a pseudodiploid human cell line with the modal chromosome number of 46, occurring in 86% of cells. The rate of polyploidy was high at 17.1%. The karyotype of the line was 46,XY,-2,+dir dup(2)(p13-p23). The Y chromosome was slightly longer than N22 and had a large segment of heterochromatic, fluorescent distal q arms ...
Changes in chromosomes in leukemia cells can be identified in 80% of children with AML. These distinct chromosomal changes detected on cytogenetic examination are often associated with different outcomes of treatment. With current treatment, 30-50% of children with AML are cured. It is important to identify those children who can be cured with standard treatments and those who should receive more individualized treatment. The distinct type of chromosomal abnormality present at diagnosis has been shown to help identify patients with a good or bad outcome.. In one Pediatric Oncology Group study, outcomes of 478 children with AML were reported. They found that children with an inverted 16th chromosome had a survival rate without relapse of 58%, those with a translocation of chromosomes 8 and 21 had a survival rate without relapse of 45% and patients with no chromosomal abnormalities had a survival rate without relapse of 45%. Children with translocation of chromosomes 15 and 17 had a survival ...
Most living cells have a defined number of chromosomes: Human cells, for example, have 23 pairs. As cells divide, they can make errors that lead to a gain ...
2. Select your favorite chromosome and list the following: Three disorders that are found on this chromosome, Indicate the type of disorder (dominant, recessive) and the type of numerical or structural aberration ...
"The production of chromosome aberrations in various mammalian cells by triethylenemelamine". Genetics. 88 (2): 317-26. PMC ... It can cause chromatid aberrations in cell models. Altretamine "Risk of Subsequent Malignant Neoplasms in Long-Term Hereditary ...
It seems that they are easy to analyze compared to chromosome aberrations. Umbreit, Neil T.; Zhang, Cheng-Zhong; Lynch, Luke D ... If the cell senses extra chromosomes, the cell can attempt to remove the extra chromosome in another cell membrane, separate ... This results in parts of the chromatids or chromosomes being broken off and enveloped as an extra nucleus in one of the ... Micronuclei can contain a whole chromosome or part of a chromatid. The increased formation of micronuclei is usually an ...
Thyroid nodularity and chromosome aberrations among women in areas of high background radiation in China. What is desirable and ... 1990). Thyroid nodularity and chromosome aberrations among women in areas of high background radiation in China. Journal of the ... 1990). Thyroid nodularity and chromosome aberrations among women in areas of high background radiation in China. Journal of the ...
This lack increases DNA damage and chromosome aberrations and sensitivity to DNA-damaging agents that cause double-strand ...
"Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific ... Borden J, Manuelidis L (December 1988). "Movement of the X chromosome in epilepsy". Science. 242 (4886): 1687-91. doi:10.1126/ ... Manuelidis L, Borden J (1988). "Reproducible compartmentalization of individual chromosome domains in human CNS cells revealed ... he authored papers on the organization of interphase chromosomes in human brain tissue. At Tufts-New England Medical Center he ...
2002). "Estimation of x ray overexposure in a childhood leukaemia cluster by means of chromosome aberration analysis". ... Her work made a major contribution to the development of biological dosimetry methods in which changes to the chromosomes in ... prevalence of chromosomal aberrations in peripheral blood lymphocytes". International Journal of Radiation Biology. 77 (1): 111 ...
Furthermore, cells will show chromosomal aberrations, the most frequent being monosomy 7 and partial trisomies of chromosome 3q ... Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay ... as this gene is on the X chromosome. These genes are involved in DNA repair. The carrier frequency in the Ashkenazi Jewish ... which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome, a 50% chance exists that male ...
Countryman, Paul I.; Heddle, John A. (1976-12-01). "The production of micronuclei from chromosome aberrations in irradiated ... Sex chromosomes contribute to the majority of chromosome loss events with increasing age. In females, the X chromosome can ... Micronucleus is the name given to the small nucleus that forms whenever a chromosome or a fragment of a chromosome is not ... Micronuclei originating from chromosome loss events and acentric chromosome fragments can be distinguished using pancentromeric ...
Chromomeric maps can be used to analyze chromosome aberrations, and find correlations between the aberrations and their effects ... Giant banded (Polytene) chromosomes resulting from the replication of the chromosomes and the synapsis of homologs without cell ... It is unknown when chromomeres first appear on the chromosome. Chromomeres can be observed best when chromosomes are highly ... Chromomeres are organized in a discontinuous linear pattern along the condensed chromosomes (pachytene chromosomes) during the ...
The fanatical Daughters of the Amazon believe that Mother Earth cleansed itself of the "aberration" of the Y chromosome. They ...
Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and are more sensitive ...
Because of the limited resolution of metaphase chromosomes, aberrations smaller than 5-10 Mb cannot be detected using ... Genes, Chromosomes and Cancer 20:399-407. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo W-L, Chen C ... Genes, Chromosomes and Cancer 10:231-243. Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, Cremer T ... Detecting these aberrations by array CGH provides information on the locations of important cancer genes and can have clinical ...
... chromosome segregation as well as development and pluripotency. Aberrations in chromatin remodeling proteins are found to be ... Loss of heterozygosity in coding region of p300 (chromosome 22q13) is present in large number of glioblastomas. Further, HATs ... During senescence, portions of chromosomes can be exported from the nucleus for lysosomal degradation which results in greater ... DNA repair and chromosome segregation, and therefore exerts tumor-suppressor function. Mutations in such chromatin remodelers ...
... tobacco and inhaling its dust is an occupational hazard for beedi workers as an increased level of chromosome aberrations was ... Mahimkar, MB; Bhisey, RA (1995). "Occupational exposure to bidi tobacco increases chromosomal aberrations in tobacco processors ...
Radiation damage can also cause chromosome and chromatid aberrations, and their effects depend on in which stage of the mitotic ... A damaged chromosome may cyclize, binding to another chromosome, or to itself. Diagnosis is typically made based on a history ... and there will be a break on both chromosome arms; the damage then will be apparent in both daughter cells. If the irradiation ... later creating serious and even lethal chromosomal aberrations if left unrepaired. Ionizing radiation can produce reactive ...
In 1938 Sax published a paper entitled "Chromosome Aberrations Induced by X-rays," which demonstrated that radiation could ... noted for his research in cytogenetics and the effect of radiation on chromosomes. Sax was born in Spokane, Washington in 1892 ... induce major genetic changes by affecting chromosomal translocations, a chromosome abnormality. The paper is thought to mark ...
"The effect of x-irradiation in oxygen and in hydrogen at normal and positive pressures on chromosome aberration frequency in ... 1957: With E. H. Y. Chu, "A study of primate chromosome complements". Am. Nat. 91:273-282. 1958: With M. E. Case, "Evidence ... 1940: "The effects of fast neutrons on the chromosomes of Tradescantia". Proc. Natl. Acad. Sci. U. S. A. 26:567-575. 1948: With ... 1950: With H. P. Riley, "Studies on the mechanism of oxygen effect on the radiosensitivity of Tradescantia chromosomes". Proc. ...
... a fast auto-counter of chromosome aberrations, imaging methods of heavy ions for treatments with atomic force microscopes. 1993 ...
... the mis-rejoining of unrepairable ends with other radiation-induced DSB leads to large DNA deletions and chromosome aberrations ... The presence of chromosomes that are lacking telomeres in the progeny of cells that were exposed to heavy ions is particularly ... However, the quality of chromosome damage is different when heavy ions are compared to sparsely ionizing radiation. Large ... Cells containing telomere-deficient chromosomes will either senesce or undergo breakage-fusion-bridge (B/F/B) cycles, thereby ...
... chromosome map). It can identify chromosomal aberrations such as translocations and rearrangements.[citation needed] It stains ... Giemsa stain is used in Giemsa banding, commonly called G-banding, to stain chromosomes and often used to create a karyogram ( ... Giemsa stain is also used to visualize chromosomes. This is particularly relevant for detection of Cytomegalovirus infection, ...
While genetic aberrations in chromosomes 1, 6 and 8 have not independently been able to predict disease progression, ... In particular, chromosomes 1, 3, 6 and 8 have been extensively studied for their association with shorter survival time and ... 82(22): p. 1765-9. Sisley, K., et al., Genes, Chromosomes & Cancer, 1990. 2(3): p. 205-9. Damato, B., J.A. Dopierala, and S.E. ... Chromosome 3 abnormalities have been analyzed using multiple techniques, including fluorescence in situ hybridization (FISH), ...
Douglas RN, Birchler JA (2017). "B Chromosomes". In Bhat T, Wani A (eds.). Chromosome Structure and Aberrations. New Delhi: ... B chromosomes[edit]. B chromosomes refer to chromosomes that are not required for the viability or fertility of the organism, ... B chromosomes were first detected over a century ago.[63] Though typically smaller than normal chromosomes, their gene poor, ... Two classic examples of segregation distortion involving sex chromosomes include the "Sex Ratio" X chromosomes of Drosophila ...
increased DNA damage and chromosome aberrations; progeria; aspects of premature aging; altered expression of numerous DNA ... increased DNA damage and chromosome aberrations, sensitivity to DNA-damaging agents and deficiency in homologous recombination[ ... "Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer- ...
2006). "Cancer progression by non-clonal chromosome aberrations". Journal of Cellular Biochemistry. 98 (6): 1424-1435. doi: ... 2006). "Stochastic cancer progression driven by non-clonal chromosome aberrations". Journal of Cellular Physiology. 208 (2): ... and karyotypic variations including chromosome structural aberrations and aneuploidy.[33][34][39][40][41] Studies of this issue ... Advances in cytogenetics facilitated discovery of chromosome abnormalities in neoplasms, including the Philadelphia chromosome ...
... aneuploidy and chromosomal aberrations. In vivo it induced chromosome abnormalities and hypodiploidy in the bone marrow of mice ...
The SMARCB1 gene (also termed BAF47, INI1, or hSNF5) is located on chromosome 22q11.2 and codes for a member of the SWI/SNF ... Aberrations of 18q and 8q, as well as recurrent gains at 11q13, have also been observed. ... Epithelioid sarcoma typically contains chromosome 22q11.2 mutations or deletions and 8q gains, particularly i(8) (>q10). ...
DNA and chromosome aberrations; structural biology and molecular applications; tumor biology and microenvironment; and tumor ...
... is a rare human genetic disorder, caused by a chromosomal aberration in which the long ("q") ... Chromosome 15q trisomy Genetics Genetic deletion "Chromosome15q deletion". nih.gov. Retrieved 2016-08-05. "15q deletion" (PDF ... Deletions of regions of chromosome 15 (notably regions 15q15 and 15q22) on several types of human tumours suggest the presence ... In addition to deletions, uniparental disomy of chromosome 15 also gives rise to the same genetic disorders, indicating that ...
The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer is a free access database devoted to chromosomes, ... It was first published in 1983 as a book named "Catalog of Chromosome aberrations in Cancer" in the Journal of Cytogenetics and ... ISBN 0-8451-4248-8. Mitelman, Felix (1991). Catalog of chromosome aberrations in cancer (4th ed.). New York: Wiley-Liss. p. ... ISBN 0-471-56087-1. MItelman, Felix (1994). Catalog of chromosome aberrations in cancer (5th ed.). New York: Wiley-Liss. p. ...
"The production of micronuclei from chromosome aberrations in irradiated cultures of human lymphocytes". Mutation Research/ ... Sex chromosomes contribute to the majority of chromosome loss events with increasing age. In females, the X chromosome can ... Micronucleus is the name given to the small nucleus that forms whenever a chromosome or a fragment of a chromosome is not ... Micronuclei originating from chromosome loss events and acentric chromosome fragments can be distinguished using pancentromeric ...
The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... such as translocations and inversions which are hallmark aberrations seen in many types of leukemia and lymphoma. ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
... been noted for its mutagenic effects as well as its capacity for being a very potent agent for inducing chromosome aberrations. ...
... with 22-25 clonally abnormal chromosomes, known as HeLa signature chromosomes."[38][39][40][41] The signature chromosomes can ... Numerical and structural chromosomal aberrations identified by SKY, genomic imbalances detected by CGH, as well as FISH ... We mapped by FISH five HPV18 integration sites: three on normal chromosomes 8 at 8q24 and two on derivative chromosomes, der(5) ... including its number of chromosomes. HeLa cells are rapidly dividing cancer cells, and the number of chromosomes varied during ...
... chromosome aberrations and mutations may in turn cause more RecQ-independent aging phenotypes. ... Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and have increased ... Cells of affected individuals have reduced lifespan in culture,[18] more chromosome breaks and translocations[19] and extensive ...
Chromosomes were measured and compared within and among cultures. Results[edit]. Newt Study[edit]. According to morphogical ... Cytological changes and chromosomal aberrations were seen in both flight-fixed and ground-fixed flight cells. A substantial ... It also examined whether cell division (mitosis) and chromosome behavior were modified by the space environment. ...
... reduces radiation-induced chromosome aberrations in human lymphocytes". Mutation Research/Genetic Toxicology and Environmental ...
There are about 1000 chromosomal aberrations (e.g., translocations and inversions) and stocks with abnormal chromosome numbers ... Maize is a diploid with 20 chromosomes (n=10). The combined length of the chromosomes is 1500 cM. Some of the maize chromosomes ...
VHL results from a mutation in the von Hippel-Lindau tumor suppressor gene on chromosome 3p25.3. Xeroderma pigmentosum (XP) is ... "Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer- ... but FANCB can be inherited from the maternal or paternal x-chromosome (x-linked recessive inheritance). The FA pathway is ...
Unique banding patterns are used to identify chromosomes and to diagnose chromosomal aberrations, including chromosome breakage ... The karyotype of humans includes only 46 chromosomes.[15][16] The great apes have 48 chromosomes. Human chromosome 2 is now ... Chromosome abnormalitiesEdit. Main article: Chromosome abnormalities. Chromosome abnormalities can be numerical, as in the ... This would give rise to a chromosome abnormality such as an extra chromosome or one or more chromosomes lost. Abnormalities in ...
Sadasivan, G.; Rani, Gulab; Kumari, C.Kusuma (1978). "Chromosome-damaging effect of betel leaf". Mutation Research/Fundamental ... These researchers report an increase in the frequency of chromatid aberrations when the leaf extract was added to cultures. ... chromosome damaging effect of betel leaf in human leukocyte cultures. ...
Toder (Jun 1997). "Comparative chromosome painting between two marsupials: origins of an XX/XY1Y2 sex chromosome system.". ... The Jackson Laboratory: Mice with chromosomal aberrations.. *^ Perelman PL, Graphodatsky AS, Dragoo JW, Serdyukova NA, Stone G ... "Chromosome painting shows that skunks (Mephitidae, Carnivora) have highly rearranged karyotypes". Chromosome Res. 16 (8): 1215- ... The 2n=6 chromosome number is conserved in the entire family Culicidae, except in Chagasia bathana which has 2n=8.[42]. ...
മനുഷ്യക്രോമസോമുകളിലുണ്ടാകുന്ന ഘടനാപരമായ വ്യതിയാനങ്ങൾ (chromosome structural abberrations)[5] പഠനവിധേയമാക്കിയതോടെ രോഗകാരണമായ ജീ ... 2Fehp.1103921 Occupational Exposure to Benzene and Chromosomal Structural Aberrations in the Sperm of Chinese Men ... bioweb.uwlax.edu/genweb/molecular/theory/replication/replication.htm DNA replication is initiated at a region on a chromosome ...
January 2007). "Abeta oligomer-induced aberrations in synapse composition, shape, and density provide a molecular basis for ... on chromosome 21, together with the fact that people with trisomy 21 (Down Syndrome) who have an extra gene copy almost ...
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.. *v ... Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have ... chromosome. • midbody. • early endosome. • phagocytic vesicle. • endoplasmic reticulum. • DNA-dependent protein kinase complex ... chromosome, centromeric region. • macromolecular complex. • autophagosome membrane. • autophagosome. • cytoplasmic vesicle. ...
"Chromosome Aberration Analysis in Peripheral Lymphocytes of Gulf War and Balkans War Veterans" (PDF). Radiation Protection ... Bosnia and Kosovo have been found to have up to 14 times the usual level of chromosome abnormalities in their genes.[123][124] ...
In the case of hemophilia, it is sex-linked thus only carried on the X chromosome. Only females can be a carrier in which the ... DNA fragment analysis can also be used to determine such disease causing genetics aberrations as microsatellite instability ( ... The most common chromosomal aneuploidy is a trisomy of chromosome 21 which manifests itself as Down syndrome. Current ...
... e may induce cellular changes, including chromosome aberrations, changes in metabolism and cell growth. Severe ... These include the addition of chromosomes, the loss of entire chromosomes, partial loss of chromosomes, and chromosomal ... Partial or complete loss of chromosomes causes the loss of important genes involved in the regulation of cell proliferation.[26 ... Chromosomal translocation and extra chromosomes help create abnormally high activity of certain proto-oncogenes, which caused ...
A well-known example of this is the Philadelphia chromosome, or translocation of chromosomes 9 and 22, which occurs in chronic ... Using molecular biological techniques, it is possible to characterize the mutations, epimutations or chromosomal aberrations ... Aneuploidy, the presence of an abnormal number of chromosomes, is one genomic change that is not a mutation, and may involve ... Large-scale mutations involve the deletion or gain of a portion of a chromosome. Genomic amplification occurs when a cell gains ...
"Y-chromosome microsatellite variation in Italian wolves: A contribution to the study of wolf-dog hybridization patterns". ... commensalism or singular aberration?". Zoology in the Middle East. 62: 85-87. ...
... and an additional aberration of trisomy 3". Am J Gastroenterol. 94 (7): 1951-4. doi:10.1111/j.1572-0241.1999.01237.x. PMID ... Genes on human chromosome 18. Hidden categories: *Protein pages needing a picture ...
As with any optical system experiencing a defocus aberration, the effect can be exaggerated or masked by changing the aperture ... Genetically, linkage studies have identified 18 possible loci on 15 different chromosomes that are associated with myopia, but ... "Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22". Invest. Ophthalmol. Vis. Sci. 43 (5): 1686-93. PMID 11980891 ... strong eyeglass prescriptions create distortions such as prismatic movement and chromatic aberration. Strongly near-sighted ...
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal ... "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". Archived from the original on 2016-05-29.. ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... Acquired chromosome abnormalities[edit]. Most cancers, if not all, could cause chromosome abnormalities,[12] with either the ...
... and CdLS cells carrying SMC1A variants display high level of chromosome aberrations.[22][23] [24] Furthermore, SMC1A is ... chromosome. • nucleoplasm. • condensed nuclear chromosome. • chromosome, centromeric region. • cell nucleus. • kinetochore. • ... Members of this family are key regulators of DNA repair, chromosome condensation and chromosome segregation from bacteria to ... Structural maintenance of chromosomes protein 1A (SMC1A) is a protein that in humans is encoded by the SMC1A gene.[5][6] SMC1A ...
The types of aberrations detected in cells affected by a genotoxic substance are chromatid and chromosome gaps, chromosome ... Also, chromosomes' integrity may be altered through chromosome loss and clastogenic lesions causing multiple gene and ... chromosomal aberrations, gene mutations, and chromosome mutations in vivo and in vitro."[4] The most common mutation within the ... This is similar to the micronucleus test and chromosome aberration assay, which detect structural and numerical chromosomal ...
In many kinds of breast cancer, aberrations in the PI3K/AKT/mTOR pathway are the most common genomic abnormalities. The most ... Cappellen, D; Gil Diez de Medina, S; Chopin, D (1997). "Frequent loss of heterozygosity on chromosome 10q in muscle-invasive ... common known aberrations include the PIK3CA gene mutation and the loss-of-function mutations or epigenetic silencing of ... "Phosphatase and tensin homologue deleted on chromosome ten (PTEN) as a molecular target in lung epithelial wound repair" ...
Taguchi, M; Watanabe, S; Yashima, K; Murakami, Y; Sekiya, T; Ikeda, S (October 1994). "Aberrations of the tumor suppressor p53 ... located on chromosome 17p132, allows for cell cycle arrest when DNA or RNA is damaged. Dysregulation of the p53 pathway can ...
The chromosome aberration test is designed to evaluate the potential of a test compound to induce structural chromosomal ... The chromosome aberration test (CAT) is designed to evaluate the potential of a test compound to induce structural chromosomal ... In Vitro Mammalian Chromosome Aberration Test. Understanding the implications of positive genetic toxicology results is crucial ...
Chromosome aberrations are large-scale illegitimate rearrangements of the genome. They are indicative of DNA damage and of ... Chromosome aberrations are large-scale illegitimate rearrangements of the genome. They are indicative of DNA damage and of ... Quantitative analysis of radiation induced chromosome aberrations. Wednesday, September 26, 2007 - 11:15am - 12:15pm ...
We look Equations from Problems of all offers of download chromosome aberrations reprint of cytogenetic and genome, except ... roundtables think Dispatched for picks and the solutions loading our models potentially have a synthetic download chromosome of ... Download Chromosome Aberrations Reprint Of Cytogenetic And Genome Research 2004. download chromosome aberrations quotes in back ... One download chromosome aberrations reprint of tested this new. done download chromosome aberrations reprint of cytogenetic and ...
Dose assessment by quantification of chromosome aberrations and micronuclei in peripheral blood lymphocytes from patients ... Chromosome aberrations. Table 1 presents the number of unstable CA (dicentrics and fragments) in lymphocytes, as well as their ... For the chromosome aberration studies, 0.3 mL of the blood samples were cultured for 48 h, in a humidified atmosphere ... Lloyd DC, Edwards AA and Prosser JS (1986) Chromosome aberrations induced in human lymphocytes by in vitro acute X and gamma ...
Acute myeloid leukemia and clonal chromosome aberrations in relation to past exposure to organic solvents ... were investigated with emphasis on clonal chromosome aberrations (CCA) and morphological subtypes.. Methods Consecutively ... as the sole aberration.. Conclusions Exposure to organic solvents was associated with an increased risk of AML. This ... No increased risk for AML with complex CCA or with total or partial losses of chromosomes 5 or 7 were observed, but a higher ...
Structural Changes in Chromosomes There are 4 common types of structural aberrations; duplications, ... CHROMOSOMES 04/20/03 6:45 PM CHROMOSOMES and KARYOTYPES Chromosomes of higher orga ... CYTOGENETICS; CHROMOSOMAL ABERRATIONS PART II: Structural Changes in Chromosomes There are 4 common types of structural ... one normal chromosome and one deleted chromosome are generally OK so long as the deletion is not too large; if it is large, it ...
The increases in frequency of chromosome aberrations in Italy and Norwegian societies have been associated to some types of ... Role of radiation-induced chromosome aberrations in predicting brain cancer risk for glioblastoma multiforme patients. Ozar M. ... Studies using chromosomal aberrations as biological markers indicate that increasing aberration levels are important indicators ... Results: The ratio of dicentric chromosome was found to be higher in the glioblastoma multiforme patients.. Conclusion: To ...
Radiation / Chromosome aberration / Cultured mammalian cells / Gene cloning / Mitosis / Checkpoint regulation / AIM-1 / ... To analyze the genes controlling radiation-induced chromosome aberration and chromosomal instability which is commonly found in ... Analysis of the checkpoint genes controlling induction of chromosome aberrations by radiation.. Research Project ...
Merlo DF, Ceppi M, Stagi E, Bocchini V, Sram RJ, Rössner P. Baseline chromosome aberrations in children. Toxicology Letters. ... Baseline chromosome aberrations in children. Domenico Franco Merlo, Marcello Ceppi, Elena Stagi, Vittorio Bocchini, Radim J. ... Baseline chromosome aberrations in children. / Merlo, Domenico Franco; Ceppi, Marcello; Stagi, Elena; Bocchini, Vittorio; Sram ... Merlo, DF, Ceppi, M, Stagi, E, Bocchini, V, Sram, RJ & Rössner, P 2007, Baseline chromosome aberrations in children, ...
1Mb resolution array-CGH identifies small chromosome aberrations in chromosome unstable and microsatellite unstable colorectal ... 1Mb resolution array-CGH identifies small chromosome aberrations in chromosome unstable and microsatellite unstable colorectal ...
CHROMOSOME STRUCTURE. *Marcos Dauder, Ricardo (Principal Investigator) ... Chromosomal aberrations are efficiently induced by ionising radiation and contribute to a great extent to the development of ... The outcome of this study will contribute to understanding of the mechanisms of chromosomal aberration formation and will ... Mechanisms of formation of ionizing radiation-induced chromosomal aberrations: Impact of repair pathways and nuclear ...
The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer is a free access database devoted to chromosomes, ... It was first published in 1983 as a book named "Catalog of Chromosome aberrations in Cancer" in the Journal of Cytogenetics and ... ISBN 0-8451-4248-8. Mitelman, Felix (1991). Catalog of chromosome aberrations in cancer (4th ed.). New York: Wiley-Liss. p. ... ISBN 0-471-56087-1. MItelman, Felix (1994). Catalog of chromosome aberrations in cancer (5th ed.). New York: Wiley-Liss. p. ...
Research in this area is supported and directed by the DNA and Chromosome Aberrations Branch (DCAB). ... Research on DNA and chromosome aberrations focuses on cancer genetics and epigenetics. Topics include regulation of gene ... "DNA and Chromosome Aberrations Research was originally published by the National Cancer Institute." ... Mechanisms involved in mitotic chromosome segregation and chromosome imbalance, translocations, and fragile sites ...
Effect of Cysteine on Chromosome Aberrations Induced by Radiation of Human Lymphocytes in Vitro. ...
Chromosome aberration definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look ... chromosome aberration, chromosome band, chromosome map, chromosome mapping, chromosome number, chromosomes ... Words nearby chromosome aberration. chromosomal map, chromosomal region, chromosomal syndrome, chromosomal trait, chromosome, ... A deviation in the normal number of chromosomes or in their morphology. ...
Rapid analysis of chromosome aberrations in mouse B lymphocytes by PNA-FISH.. Misenko SM1, Bunting SF2. ... Analysis of the frequency and type of chromosome aberrations in different cell types allows defects in DNA repair pathways to ... facilitates the rapid analysis of genomic instability in metaphase chromosome spreads. B cells have specific advantages ...
Chromosome aberrations in lymphocytes of high-voltage laboratory cable splicers exposed to electromagnetic fields. ... laboratories; lymphocytes; chromosome changes; electromagnetic fields; genetic effects; high voltage. Descriptors (secondary). ...
... chromosome aberrations and sperm alternations in streptozotocin-induced diabetic rats. These animals have been treated, for 30 ... disappear of some base pairs and chromosome aberrations. So, it is proposed that more close scientific attention be paid to ... Al-Malki, A. (2012) Effect of Pleurotus ostreatus on hyperglycemia, DNA damage and chromosomes aberrations. Journal of ... Mushroom; Diabetes; Hyperglycemia; DNA Damage; Chromosome Aberrations and Sperm Alternations; Streptozotocin-Induced Diabetic ...
... Aamot et al 2007, J Cancer Res Clin Oncol. ...
... chromosome aberrations and may be visualized at mitosis when cells divide.. The frequency of chromosome aberrations increases ... Chromosome aberrations. Chromosomes are composed of long thin molecules of DNA. When cells are exposed to radiation or ... Such aberrations have a single centromere per chromosome and hence can divide so that the altered chromosome persists for many ... Chromosome aberrations have been examined in clonally derived cell populations in vivo (cells bearing an identical aberration) ...
... revealed clonal chromosome aberrations in 21 of them. Eight polyps had structural rearrangements, whereas only numerical ... Chromosome 8 was involved in structural changes in two adenomas; in one this led to loss of 8p and in the other to gain of 8q. ... Rearrangement of chromosome 1 was the most common structural change. Abnormalities involving 1p were seen in six adenomas, ... The most common numerical change was gain of chromosome 7, found either as the sole anomaly (five polyps), together with other ...
Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. ... Abnormal number or structure of the SEX CHROMOSOMES. ... Some sex chromosome aberrations are associated with SEX ... Sex Chromosome; Chromosome Aberration, Sex; Chromosome Aberrations, Sex; Chromosome Abnormality, Sex; Sex Chromosome Aberration ... Sex Chromosome; Chromosome Abnormalities, Sex; Aberration, Sex Chromosome; Aberrations, Sex Chromosome; Abnormality, ...
The Effectiveness of 20 MeV Protons at Nanosecond Pulse Lengths in Producing Chromosome Aberrations in Human-Hamster Hybrid ... Since the different findings for the comparisons of individual chromosome aberration types and combined comparisons could be ... "The Effectiveness of 20 MeV Protons at Nanosecond Pulse Lengths in Producing Chromosome Aberrations in Human-Hamster Hybrid ... "The Effectiveness of 20 MeV Protons at Nanosecond Pulse Lengths in Producing Chromosome Aberrations in Human-Hamster Hybrid ...
... Cancer Genet Cytogenet. 1997 Jul 1;96(1): ...
Both regimens have long-term effects in somatic cells, presenting nonclonal chromosomal aberrations and genomic chaos in a ... including nonclonal chromosomal aberrations. The frequency and type of chromosomal abnormalities appear to depend on the type ... of karyotypic heterogeneity that could eventually generate a more stable population acquiring clonal chromosomal aberrations ... nonclonal chromosome aberration (NCCA); second cancer; virus reactivation chromosome instability (CIN); chromoplexy; genome ...
Patients with chronic lymphocytic leukemia (CLL) harboring TP53 aberrations (TP53abs; chromosome 17p deletion and/or TP53 ... Chromosome 8 abnormalities, namely losses of 8p (8p-) and gains of 8q (8q+) have been suggested to aggravate the outcome of ... rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations. ... In conclusion, our results highlight the association of chromosome 8 abnormalities with CK amongst CLL patients with TP53abs, ...
... has become a useful tool in the detection and mapping of chromosome aberrations. Modifications of CGH with … ... A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size Eur J Hum ... has become a useful tool in the detection and mapping of chromosome aberrations. Modifications of CGH with increased resolution ... a clear limitation when used as a screening method for chromosome aberrations in patients with idiopathic MR. ...
... ... chromosome, and clarified the mechanism that generated the Y chromosome inversion (Figure 1). Eight loci of the Y chromosome: ... Structural aberrations involving the chromosome 9 at region q32-ter have been identified in six BEEC cases (1). The SF-1 ( ... The Y chromosome aberration identified in this patient with a complex urogenital malformation is an unusual finding, and ...
Multiple Aberrations of Chromosome 3p Detected in Oral Premalignant Lesions. Ivy F.L. Tsui, Miriam P. Rosin, Lewei Zhang, ... Multiple Aberrations of Chromosome 3p Detected in Oral Premalignant Lesions. Ivy F.L. Tsui, Miriam P. Rosin, Lewei Zhang, ... Multiple Aberrations of Chromosome 3p Detected in Oral Premalignant Lesions. Ivy F.L. Tsui, Miriam P. Rosin, Lewei Zhang, ... Multiple Aberrations of Chromosome 3p Detected in Oral Premalignant Lesions Message Subject (Your Name) has forwarded a page to ...
Chromosome aberrations in human lymphocytes irradiated with heavy ions.. Darmstadt, Technische Universität, [Online-Edition: ... ionizing radiation, particle therapy, chromosome aberrations, lymphocytes, high LET, heavy ions. English. ... and Fe-like particles with LETs ranging from 2-3160 keV/microm and chromosome aberrations were measured in first cycle ... In parallel, aberrations were determined in G2-phase cells and cell cycle progression as well as radiation-induced apoptosis ...
... chromosome aberra-tions. The rates of SCEs and chromosome aberrations in persons living in one of the endemic villages were ... Sister chromatid exchange frequency and chromosome aberrations in residents of fluoride endemic regions of South Gujarat. ...
a lichen) on imazalil-induced genotoxicity: analysis of micronucleus and chromosome aberrations in vitro. ... 3523225 - 25 years of a unique chromosome-breakage system. i. principal features and comparison t.... 17164655 - Cytogenetic ... were studied against the genotoxic damage induced by IMA on cultured human lymphocytes using chromosomal aberrations (CAs) and ...
Multiple structural aberrations produced by chromosome breakage and reunion not only provide new germplasm for enriching ... Potential use of these stable aberrations and the colinearity of chromosome 2R with corresponding chromosomes in the other ... gametocidal chromosome action and irradiation. A total of 88 chromosome 2R aberrations were identified in 65 plants. From the ... Multiple structural aberrations produced by chromosome breakage and reunion not only provide new germplasm for enriching ...
... EJ Tawn and Hubert ... "Dose Response Relationships for Chromosome Aberrations Induced by Low Doses of Alpha-particle Radiation." Radiation Protection ... "Dose Response Relationships for Chromosome Aberrations Induced by Low Doses of Alpha-particle Radiation." RADIATION PROTECTION ... Tawn E, Thierens H. Dose response relationships for chromosome aberrations induced by low doses of alpha-particle radiation. ...
The frequency of chromosome aberrations was decreased in dependence of the concentration applied and the treatment variant. 34- ... She has experience with classical cytogenetic techniques (chromosome aberrations, micronuclei) and molecular methods (comet ... evaluated by chromosome aberration test in barley (reconstructed karyotype MK14/2034) and cultured human lymphocytes. Two types ... possess anti-genotoxic activity against MNNGinduced chromosome aberrations in higher plants and cultured human lymphocytes. ...
  • Increased resolution of molecular cytogenetics along with the availability of cell lines and knockout mouse models sensitive to radiation, provide the basis for further unravelling of the mechanisms of formation of chromosomal aberrations. (uab.cat)
  • Field studies conducted in children exposed to ionizing radiation and industrial chemicals have consistently reported increased frequencies of chromosome aberrations in those environmentally exposed than in referent subjects. (elsevier.com)
  • The chromosome aberration test (CAT) is designed to evaluate the potential of a test compound to induce structural chromosomal abnormalities such as breaks and exchanges. (criver.com)
  • Is there a relationship between sperm chromosome abnormalities and sperm morphology? (biomedcentral.com)
  • With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. (biomedcentral.com)
  • Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. (biomedcentral.com)
  • Fluorescence in situ hybridization (FISH) analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia) is associated with a modest increase in the frequency of sperm chromosome abnormalities. (biomedcentral.com)
  • Intuitively, one might expect that a change in chromosome content is reflected by a change in the size of sperm - thus, people expect to see a relationship between sperm morphology and genetic abnormalities. (biomedcentral.com)
  • Numerical abnormalities include aneuploidies and polyploidies, and arise from a missing or extra chromosome(s) due to meiotic non-disjunction. (biomedcentral.com)
  • The frequency of numerical chromosome abnormalities in sperm of fertile men is 1-2%, and the frequency of structural chromosome abnormalities in sperm varies from 7-14% [ 3 ]. (biomedcentral.com)
  • There are many types of abnormalities in the genome of cancer cells, including gene fusion because of chromosome rearrangement. (biomedcentral.com)
  • The increases in frequency of chromosome aberrations in Italy and Norwegian societies have been associated to some types of cancers. (minervamedica.it)
  • While a single break leading to the loss of the ends of chromosomes should be most common, such 'terminal deletions' are actually rare. (coursehero.com)
  • Analysis of the checkpoint genes controlling induction of chromosome aberrations by radiation. (nii.ac.jp)
  • To analyze the genes controlling radiation-induced chromosome aberration and chromosomal instability which is commonly found in human cancer cells, we have isolated several mammalian homologues of the yeast mitotic checkpoint genes and examined their biochemical properties using human tumor cell lines and cancerous tissues. (nii.ac.jp)
  • loss of chromosomal material Breaks in chromosomes can result from a variety of factors, including X-rays or stray cosmic radiation. (coursehero.com)
  • Chromosomal aberrations are efficiently induced by ionising radiation and contribute to a great extent to the development of cancer. (uab.cat)
  • Chromosome aberrations are large-scale illegitimate rearrangements of the genome. (umn.edu)
  • Chromosome pairing in an individual homozygous for the deletion will appear normal although the chromosomes are shorter. (coursehero.com)
  • Studies using chromosomal aberrations as biological markers indicate that increasing aberration levels are important indicators in predisposition to the cancer. (minervamedica.it)
  • The proposal aims at studying the initial DNA damage, its repair and the biological factor influencing the ultimate yield of chromosomal aberrations. (uab.cat)
  • Acute myeloid leukemia and clonal chromosome aberrations in relation to past. (sjweh.fi)
  • Objectives The effects of occupational and leisure-time exposures on the risk of acute myeloid leukemia (AML) were investigated with emphasis on clonal chromosome aberrations (CCA) and morphological subtypes. (sjweh.fi)
  • The abnormalities that result are termed 'chromosome aberrations' and may be visualized at mitosis when cells divide. (rerf.jp)
  • Chromosome abnormalities in colorectal adenomas: two cytogenetic subgroups characterized by deletion of 1p and numerical aberrations. (nih.gov)
  • The chromosome aberration test (CAT) is designed to evaluate the potential of a test compound to induce structural chromosomal abnormalities such as breaks and exchanges. (criver.com)
  • The details of the underlying molecular mechanisms that lead to the development of these symptoms associated with X chromosome abnormalities are poorly understood. (biomedcentral.com)
  • In the present study, we investigated the abnormalities of chromosome 3 and 4, and the possible correlation between them, as well as with LH-RH-R expression. (elsevier.com)
  • Our results clearly demonstrate abnormalities in chromosome 3 and 4 and the incidence of the monosomy of chromosome 3 in human UM. (elsevier.com)
  • intraventricular aberration aberrant conduction within the ventricles of an impulse generated in the supraventricular region, excluding abnormalities due to fixed organic defects in conduction. (thefreedictionary.com)
  • extracts (PREs) were studied against the genotoxic damage induced by IMA on cultured human lymphocytes using chromosomal aberrations (CAs) and micronucleus (MN) as cytogenetic parameters. (biomedsearch.com)
  • The objective of the study was to evaluate cytotoxic/clastogenic effect and anti-cytotoxic/anti-clastogenic potential of geraniol (ethanolic extract) evaluated by chromosome aberration test in barley (reconstructed karyotype MK14/2034) and cultured human lymphocytes. (omicsonline.org)
  • Ghorbani M. and Mozdarani H. In vitro radioprotective effects of histamine H2 receptor antagonists against gamma-rays induced chromosomal aberrations in human lymphocytes Iran. (sciencepublishinggroup.com)
  • Rapid analysis of chromosome aberrations in mouse B lymphocytes by PNA-FISH. (nih.gov)
  • The standard method to quantify the exposed dose and to assess the health risks of radiation is the analysis of chromosome aberrations in peripheral blood lymphocytes at the first post-irradiation mitosis at one fixed time, 48 h, after in vitro stimulation. (tu-darmstadt.de)
  • Labeling of the telomeres using PNA-FISH probes (peptide nucleic acid - fluorescent in situ hybridization) facilitates the rapid analysis of genomic instability in metaphase chromosome spreads. (nih.gov)
  • In conclusion, the resolution of metaphase CGH may be as high as 2-3 Mb but is most likely depending on the chromosomal region involved, a clear limitation when used as a screening method for chromosome aberrations in patients with idiopathic MR. (nih.gov)
  • However, evidence is accumulating that high LET induced cell cycle delays and apoptosis may influence the aberration yield observable in metaphase cells. (tu-darmstadt.de)
  • To address these questions, lymphocytes obtained from a healthy donor were irradiated with X-rays, C-, Fe- and Fe-like particles with LETs ranging from 2-3160 keV/microm and chromosome aberrations were measured in first cycle metaphase cells at multiple 3 h collection intervals from 48 to 84 h post-irradiation. (tu-darmstadt.de)
  • When mitogen stimulation converts these resting lymphocytes into cycling cells, DNA lesions can be visualized in the metaphase chromosome (Lindholm, 2000). (scielo.br)
  • Cell division was blocked in metaphase by the addition of colchemid and the chromosomal damages in the preparations were scored with asymmetrical chromosomal aberrations. (minervamedica.it)
  • We report two antagonic non-random chromosome arrangements in untreated premeiotic cells: the parallel configuration with homologue chromosomes associated side by side in the metaphase plate and the antiparallel configuration having homologue chromosomes with antipolar distribution in the metaphase ring. (oalib.com)
  • Our objectives were to study the dose response for ET-induced numerical and structural chromosomal aberrations in mouse one-cell zygotes, to compare these data with those obtained from a contemporary metaphase II (MII) oocyte study and to evaluate the sensitivity of dictyate oocytes to ET-induced aneuploidy. (mysciencework.com)
  • for example, in the condensation of chromosomes at metaphase. (encyclopedia.com)
  • Chromosome preparations are then made from the bone marrow cells and stained, and metaphase cells are analysed for chromosome aberrations. (oecd.org)
  • To better define the incidence and significance of cryptic chromosome lesions in acute myeloid leukemia (AML), fluorescence in situ hybridization (FISH) studies were performed in interphase cells and, when appropriate, in metaphase cells and in morphologically intact BM smears. (elsevier.com)
  • Metaphase cells showed only one hybridization signal at 5q31 (three cases) and 7q31 (one case), whereas two normal signals at 7q31 and chromosome 8 centromeres were seen in two patients with 7q deletion and trisomy 8 in interphase cells. (elsevier.com)
  • SUMMARY: Peripheral blood lymphocytes of residents of three villages and one nearby township in South Gujarat with fluoride concentrations in the drinking water of 1.56 - 3.46 and 0.6 - 0.8 ppm, respectively, were examined for their frequency of sister chromatid exchanges (SCE) and chromosome aberra-tions. (slweb.org)
  • To examine the biological effect in the peripheral blood of the paediatric patients chromosome analysis was carried out in 10 children for whom the medical justifications for CT examinations were accidental injuries and not diseases as investigated in earlier studies. (radioprotection.org)
  • The biological method involved counting chromosome aberrations in cultured peripheral blood lymphocytes, and the physical method was based on a reconstruction of the accident. (nature.com)
  • After the last time of radiation exposure, all the mice were employed for the determination of the body mass (BM) observation, forced swim test (FST), the open field test (OFT), the chromosome aberration (CA), the peripheral blood cells parameters analysis, the sperm abnormality (SA), the lymphocyte transformation test (LTT), and the histopathological studies. (hindawi.com)
  • The aim of this work was to analyze the relationship between polymorphisms of DNA repair gene XPD Lys751Gln and frequency and spectrum of chromosome aberrations in the culture of peripheral blood lymphocytes of thyroid cancer (TC) patients having been exposed to ionizing radiation due to the Chornobyl accident. (exp-oncology.com.ua)
  • In several studies was found the relationship between of high level of the chromosomal aberrations in the culture of peripheral blood lymphocytes of persons exposed to IR and the risk of the developing of the TC [19]. (exp-oncology.com.ua)
  • however, the occurrence of numerical aberrations of chromosome 4 have never been studied in UM. (elsevier.com)
  • Numerical aberrations of chromosome 3 and 4 were studied by fluorescence in situ hybridization (FISH). (elsevier.com)
  • DI-fusion Study of numerical aberrations of chromosome 1 by fluorescent. (ac.be)
  • It was first published in 1983 as a book named "Catalog of Chromosome aberrations in Cancer" in the Journal of Cytogenetics and Cell Genetics, containing 3,844 cases. (wikipedia.org)
  • The database is available on-line (https://mitelmandatabase.isb-cgc.org) for searches related to cases cytogenetics, gene fusions, clinical associations, structural or numerical recurrent aberrations and references. (wikipedia.org)
  • Current cytogenetics has largely focused its efforts on the identification of recurrent karyotypic alterations, also known as clonal chromosomal aberrations (CCAs). (biomedcentral.com)
  • 6. Cytogenetics: Karyotypes and Chromosome Aberrations. (barnesandnoble.com)
  • Increased resolution of molecular cytogenetics along with the availability of cell lines and knockout mouse models sensitive to radiation, provide the basis for further unravelling of the mechanisms of formation of chromosomal aberrations. (uab.cat)
  • We show that a single, short exposure of cultured mammalian epithelial cells to live pks + E. coli at low infectious doses induced a transient DNA damage response followed by cell division with signs of incomplete DNA repair, leading to anaphase bridges and chromosome aberrations. (pnas.org)
  • In addition, infection of various mammalian cells with pks + E. coli induced, at very low multiplicity of infection (MOI), reversible DNA damage response that did not repair all DSBs, leading to chronic mitotic and chromosomal aberrations together with increased frequency of gene mutation and anchorage-independent growth. (pnas.org)
  • The mammalian in vivo chromosome aberration test is used for the detection of structural chromosome aberrations induced by test compounds in bone marrow cells of animals, usually rodents (rats, mice and Chinese hamsters). (oecd.org)
  • This is a source of karyotypic heterogeneity that could eventually generate a more stable population acquiring clonal chromosomal aberrations and leading towards the development of a new cancer. (mdpi.com)
  • Krishnaja A.P. and Sharma N.K. Heterogeneity of chromosome damage in β-thalassaemia traits. (sciencepublishinggroup.com)
  • Research on DNA and chromosome aberrations focuses on cancer genetics and epigenetics. (cancer.gov)
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  • Therefore, the quantification of chromosome biomarkers of α-irradiation must take into account the distribution and transmissibility of the different aberration types if it is to provide information that is relevant to the interpretation of in vivo frequencies. (radioprotection.org)
  • Furthermore, aberrations can be used for applications in biodosimetry and more generally as biomarkers of exposure and risk, that is the case for cancer patients monitored during Carbon-ion therapy and astronauts exposed to space radiation. (unipv.it)
  • In vitro irradiation experiments using blood lymphocytes can provide a dose-response relationship that can be used to estimate radiation dose to individuals on the basis of the aberration frequency detected in their lymphocytes. (rerf.jp)
  • a lichen) on imazalil-induced genotoxicity: analysis of micronucleus and chromosome aberrations in vitro. (biomedsearch.com)
  • In recent years, in vitro studies have highlighted the complexity of chromosome aberrations induced by α-irradiation. (radioprotection.org)
  • Lymphocytes in their first in vitro division following exposure to 213Bi α-particles were analysed by sFISH and genomic aberration frequencies derived. (radioprotection.org)
  • Chromosome analysis was carried out in lymphocytes by fluorescence plus Giemsa (FPG) staining exclusively in metaphases of the first cell cycle in vitro. (radioprotection.org)
  • Since nuclear swelling (NS hereafter) has been frequently observed in chromosomal aberration (CA hereafter) tests (in vitro), the relationship between NS and CAs was investigated in this study. (biomedcentral.com)
  • It is not possible to determine whether these aberrations were already formed in the bone marrow in vivo or whether they occurred during proliferation in vitro . (aacrjournals.org)
  • The proposal aims at studying the initial DNA damage, its repair and the biological factor influencing the ultimate yield of chromosomal aberrations. (uab.cat)
  • The TVRC biopsy was performed to confirm diagnosis prior to enucleation and was subsequently analyzed using two techniques for chromosomes 1p, 3, 6, and 8: Fluorescence in situ hybridization (FISH) in all patients, and multiplex ligation-dependent probe amplification (MLPA) in 16 patients. (arvojournals.org)
  • 25 years of a unique chromosome-breakage system. (biomedsearch.com)
  • In this study, mass structural aberrations of rye chromosome 2R were induced by means of spontaneous breakage and reunion, gametocidal chromosome action and irradiation. (springer.com)
  • Molecular studies to gain knowledge on the changes in epigenetics and gene expressions associated with abnormal numbers of chromosomes could improve the understanding of the molecular basis of these symptoms. (biomedcentral.com)
  • At 0h & 24h Famotidine induced 60.91% & 56.42% inhibition in dicentrics & 59.39% & 56.21% inhibition was observed in total aberrations where as Ranitidine induce 52.11% & 43.54% inhibition in dicentrics and 53.06% & 46.66% inhibition in total aberrations at 0h & 24h. (sciencepublishinggroup.com)
  • Treatment of corn oil for 14 and 28 days failed to induce chromosomal aberrations. (who.int)
  • A slightly but consistently lower aberration yield was observed for the pulsed compared to the continuous mode of proton irradiation. (bioone.org)
  • For high LET irradiation, such as that from internally deposited α-emitting radionuclides, the relationship between chromosome aberration frequencies in blood lymphocytes and dose is more difficult to establish. (radioprotection.org)
  • The profile of chromosome damage induced by α-particle irradiation was examined using sFISH and mBAND. (radioprotection.org)
  • These assays can detect mutations in the Tk gene that result from both gene mutations and chromosome damage. (biomedcentral.com)
  • However, cytogenetic and molecular investigations have failed to detect either aberrations of chromosome 22 or mutations in the NF2 gene in approximately 40% of all tumors, thus making it apparent that an alternative mechanism(s) is responsible for the development of a large fraction of meningiomas. (northwestern.edu)
  • 4 (in genetics) any change in the number or structure of the chromosomes. (thefreedictionary.com)
  • This book continues to fulfill that need, and is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects. (springer.com)
  • Pathology and I-BRD9 site genetics of tumours of soft tissue and bone.Olecular characterization of MAR, a multiple aberration area on human chromosome segment 12q13q15 implicated in different strong tumors. (ghsrinhibitor.com)
  • Pathology and genetics of tumours of soft tissue and bone.Olecular characterization of MAR, a multiple aberration region on human chromosome segment 12q13q15 implicated in different strong tumors. (cannabinoid-receptor.com)
  • The small but consistent differences between the two cities may be due either to different scoring efficiency of aberrations in the two laboratories or to differential errors in DS86 dose assignments. (rerf.jp)
  • Tawn E, Thierens H. Dose response relationships for chromosome aberrations induced by low doses of alpha-particle radiation. (ugent.be)
  • Biological Dosimetry: Chromosomes aberrations analysis for dose assessment, I.A.E.A. Vienna Technical documents. (sciencepublishinggroup.com)
  • The highest percentage of chromosomal aberrations was produced by the two tested dose 14 days after treatment. (who.int)
  • For the conditions of this accident a reasonable agreement was obtained between the two methods, which adds to the growing confidence in the use of chromosome aberration counting for dose assessment in radiation accidents. (nature.com)
  • The results demonstrated that piperine at a dose of 100 mg/kg body weight gave a statistically significant reduction in cyclophosphamide -induced chromosomal aberrations . (bvsalud.org)
  • The outcome of this study will contribute to understanding of the mechanisms of chromosomal aberration formation and will ultimately help to extrapolate to the effects low doses and low dose-rates. (uab.cat)
  • Chen TT (2010) Development and molecular marker analysis of chromosome 2R variations of Secale cereale cv. (springer.com)
  • article{Rosenfeld2002EffectOE, title={Effect of Epithalon on the Incidence of Chromosome Aberrations in Senescence-Accelerated Mice}, author={Svetlana V. Rosenfeld and E. F. Togo and Vladimir Mikheev and Irina G. Popovich and M. A. Zabezhinskii and Vladimir Kh. (semanticscholar.org)
  • Analysis of the checkpoint genes controlling induction of chromosome aberrations by radiation. (nii.ac.jp)
  • After a brief introduction on the main general features of chromosome aberrations, in this work we will address key aspects of the current knowledge on chromosome aberration induction, both from an experimental and from a theoretical point of view. (unipv.it)
  • Finally, two of the few available models of chromosome aberration induction by ionizing radiation (including heavy ions) will be described and compared, focusing on the different assumptions adopted by the authors and on how these models can deal with heavy ions. (unipv.it)
  • In three adenomas, del(1)(p36) was the only cytogenetic aberration, supporting the authors' previous conclusion that loss of one or more gene loci in band 1p36 is a common early change in colorectal tumorigenesis. (nih.gov)
  • Loss of chromosome 22 loci, and specifically inactivation of the NF2 tumor suppressor gone, is considered one of several critical steps in the tumorigenesis of meningioma. (northwestern.edu)
  • Analysis of the frequency and type of chromosome aberrations in different cell types allows defects in DNA repair pathways to be elucidated. (nih.gov)
  • Each type of chromosome contains different genes that are found at specific locations along the chromosome. (encyclopedia.com)
  • Cultures were harvested & processed at 48h & 72h for chromosome aberrations and micronucleus analysis respectively. (sciencepublishinggroup.com)
  • Most carcinogens that cause NS are genotoxins, which cause DNA damage, chromosomal aberrations (CAs), and micronucleus formation. (biomedcentral.com)
  • Chen SW, Chen PD, Wang XE (2008) Inducement of chromosome translocation with small alien segments by irradiating mature female gametes of the whole arm translocation line. (springer.com)
  • A chromosome rearrangement is a structural change in a chromosome such as a deletion, translocation, inversion, or gene amplification. (encyclopedia.com)
  • Sometimes a spontaneous break or breaks occur in a chromosome or chromosomes in a particular cell and can result in a deletion, inversion, or translocation. (encyclopedia.com)
  • When a piece of one chromosome is exchanged with a piece from another chromosome it is called a translocation. (encyclopedia.com)
  • In females heterozygous for Searle's translocation ( T 16 H ), in which part of the X chromosome is translocated on to an unidentified autosome, the sex-linked variegation is suppressed. (nature.com)
  • Thus, the frequency of dicentric chromosomes can be applied to recent exposure cases only. (rerf.jp)
  • In contrast to controls, the N-APC survivors frequently contain dicentric chromosomes and then go on to become highly aneuploid. (biologists.org)
  • DNA staining techniques such as mFISH (multicolor fluorescent in situ hybridization) provide a means for analyzing aberration spectra by examining observed final patterns. (utmb.edu)

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