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)

Chromosome mutations are the cause of many genetic diseases in humans. Cancer is associated with alterations in oncogenes and tumor suppressor genes. 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. Rats, mice and Chinese hamsters are commonly used.  The two types of structural chromosome aberrations are chromosome or chromatid. There are several criteria for determining a positive result, such as a dose-related increase in the relative number of cells with chromosome aberrations. Animals are exposed to the test compound and are treated with a metaphase-arresting agent (e.g., colchicine or Colcemid®) prior to euthanasia at appropriate times after treatment.  Bone marrow cells are harvested and stained, and metaphase cells are analyzed for chromosome aberrations. Each treated and control group must include at least 5 analyzable animals per sex. The limit dose for treatment
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 ...
The present study was designed to develop a technique to prepare human chromosomes for sequential light and electron microscopic observation and to compare detectability of chromosome aberrations induced by adriamycin and mitomycin C by the two procedures. The technique developed preserved the morphological and structural organization of chromosome while allowing observation of the cells entire chromosome complement. It was rapid and reproducible and chromosomes could be treated and stained for banding. Light microscopic data showed that in cultures of human lymphocytes both drugs induce chromosome aberrations. In comparison with controls both drugs produced significantly more chromosome and chromatid fragments. Electron microscopy revealed greater numbers of chromosome aberrations in both drug groups at higher levels of statistical significance. The differences between chromosome and chromatid fragments observed at the light and electron microscope levels were statistically significant. However, with
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 ...
TY - JOUR. T1 - Co-regulation analysis of closely linked genes identifies a highly recurrent gain on chromosome 17q25.3 in prostate cancer. AU - Bermudo, Raquel. AU - Abia, David. AU - Ferrer, Berta. AU - Nayach, Iracema. AU - Benguria, Alberto. AU - Zaballos, Ángel. AU - del Rey, Javier. AU - Miró, Rosa. AU - Campo, Elías. AU - Martínez-A, Carlos. AU - Ortiz, Ángel R.. AU - Fernández, Pedro L.. AU - Thomson, Timothy M.. PY - 2008/10/30. Y1 - 2008/10/30. N2 - Background: Transcriptional profiling of prostate cancer (PC) has unveiled new markers of neoplasia and allowed insights into mechanisms underlying this disease. Genomewide analyses have also identified new chromosomal abnormalities associated with PC. The combination of both classes of data for the same sample cohort might provide better criteria for identifying relevant factors involved in neoplasia. Here we describe transcriptional signatures identifying distinct normal and tumoral prostate tissue compartments, and the inference ...
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.. ...
The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations.
The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations.
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 ...
RESULTS: Samples from 9 malformed fetuses were analyzed successfully by CGH. Numerical chromosome aberrations were detected in samples from cases 4, 8 and 9, and were verified by fluorochrome-exchanged CGH. Trisomy 21q was detected in case 4, del 2p24-pter and dup 12p13 was detected in case 8, and del 1p33-pter and del 22q11-12 were detected in case 9 ...
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 ...
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 ...
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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...
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.
To detect novel genetic alterations, many astrocytomas have been investigated by comparative genomic hybridization (CGH). To identify aberration profiles characteristic of World Health Organization (WHO) grade I, II, III, and IV astrocytoma, we performed a meta-analysis of detailed genome wide CGH data of all 467 cases published so far. After expansion of all given aberrations to the maximum of 850 GTG-band resolution, the frequencies of genetic imbalances were calculated for each chromosomal band, separately for all four WHO grades. Low-grade astrocytoma has already demonstrated one characteristic of glioblastoma multiforme, gain of chromosome 7 with a hot spot at 7q32, but without loss of chromosome 10. In anaplastic astrocytoma, a more complex aberration pattern emerges from diffuse genetic imbalances. Gains of 7q32-q36 and 7p12 become the most frequent aberrations at chromosome 7. In glioblastoma multiforme, coarse aberrations like +7, -9p, -10, and -13 represent the most frequent ...
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 ...
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 ...
TY - JOUR. T1 - Association of the NAT1*10 genotype with increased chromosome aberrations and higher lung cancer risk in cigarette smokers. AU - Abdel-Rahman, Sherif Z.. AU - El-Zein, Randa. AU - Zwischenberger, Joseph B.. AU - Au, William W.. PY - 1998/2/28. Y1 - 1998/2/28. N2 - The NAT1 gene exhibits polymorphisms in the non-coding polyadenylation region with a number of alleles. Of these alleles, NAT1*10 is responsible for increased NAT1 enzyme levels and is reported to be associated with increased risk for colorectal and bladder cancers. In view of the possible role of the NAT1 gene product in the metabolism of a number of cigarette smoke carcinogens, we tested the possibility that genetic variation in the NAT1 gene might also be associated with increased risk for lung cancer. Allelic variances of the NAT1 gene were analyzed in 45 lung cancer patients and 47 controls wile were matched with respect to age, race and gender using restriction fragment length polymorphism (RFLP) analysis and ...
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). ...
Read or download book entitled Benign and Pathological Chromosomal Imbalances written by Thomas Liehr which was release on 31 August 2013, this book published by Academic Press. Available in PDF, EPUB and Kindle Format. Book excerpt: Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, ...
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
Opn5 (CEU) ancestry (Online Methods; Supplementary Numbers 1 and 2). After filtering, 414,804 autosomal SNPs common to both case-control series remained (Supplementary Number 1). To explore the relationship between SNP genotype and translocations involving the hybridization (FISH) and/or karyotype data (Supplementary Number 1). Translocation data were available on 1,655 multiple myeloma individuals, 12% with t(4;14) and 17% with t(11;14) and ploidy status was available for 1,535 individuals, 55% of which had HD (Supplementary Table 1). Prior to starting the meta-analysis of the two GWAS by subtype, we searched for potential errors and biases in the data units. Quantile-quantile plots of before and after Eigenstrat adjustment EGT1442 =1.03, 1.01, and 1.17, 1.03, for UK and German studies respectively; Supplementary Number 3). Using data from UK and German GWASs, we derived the combined OR and confidence interval (CI) for each SNP under a fixed-effects model along with the connected translocations ...
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
We have shown that PIK3CA pathway aberrations are common in breast cancer, pointing to a critical role for this signaling pathway in breast carcinogenesis. PIK3CA oncogene mutations are particularly common, whereas AKT and PTEN mutations occur less frequently ( Table 1). The AKT1_E17K mutation was detected in only 6 of 418 breast cancers (1.4%), confirming a role in breast cancer pathophysiology albeit in a limited number of breast cancers. Amplification of PDK1, PIK3CA, PIK3CB, AKT1, AKT2, and p70S6K is also among the extensive list of known aberrations that can activate PI3K pathway signaling in cancer ( 1). The frequency of PI3K pathway mutational aberrations was markedly different among the different breast cancer subtypes, being most common in hormone receptor-positive tumors and least common in basal-like cancers. This breast cancer subtype specificity suggests that PIK3CA mutations and other PI3K pathway aberrations may play a distinct role in the pathogenesis of these different diseases. ...
Comparative genomic hybridization (CGH) was used to screen 83 lung adenocarcinomas of 60 patients for chromosomal imbalances. The most common alteration was DNA overrepresentation on chromosome 1q, with a peak incidence at 1q22-q23 in 73% of the primary tumours, followed by DNA overrepresentation on …
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
A coded analysis of X-ray-induced chromatid aberrations in lymphocyte cultures from 45 control individuals and 19 ataxia-telangiectasia (A-T) heterozygotes was performed. The distribution of chromatid breaks induced in the late G2 portion of the cell cycle by 60 cGy of X-rays appeared bimodal in the study population. In six controls (13 percent) and in 12 of 19 (63 percent) A-T heterozygotes, the
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.
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. ...
DNA and chromosome aberrations; structural biology and molecular applications; tumor biology and microenvironment; and tumor ...
Douglas RN, Birchler JA (2017). "B Chromosomes". In Bhat T, Wani A (eds.). Chromosome Structure and Aberrations. New Delhi: ... Discussing B chromosomes in plants he wrote: In many cases these chromosomes have no useful function at all to the species ... B chromosomes refer to chromosomes that are not required for the viability or fertility of the organism, but exist in addition ... B chromosomes were first detected over a century ago.[when?] Though typically smaller than normal chromosomes, their gene poor ...
Mertens, F.; Wahlberg, P.; Domanski, H. A. (2009). "Clonal chromosome aberrations in a sialoblastoma". Cancer Genetics and ...
August 2006). "Stochastic cancer progression driven by non-clonal chromosome aberrations". Journal of Cellular Physiology. 208 ... "Cancer progression by non-clonal chromosome aberrations". Journal of Cellular Biochemistry. 98 (6): 1424-1435. doi:10.1002/jcb. ... and karyotypic variations including chromosome structural aberrations and aneuploidy. Studies of this issue have focused mainly ... Advances in cytogenetics facilitated discovery of chromosome abnormalities in neoplasms, including the Philadelphia chromosome ...
"Mitelman Database of Chromosome Aberrations in Cancer". Cancer Genome Anatomy Project. Retrieved 2008-03-01. v t e (Articles ... See below.) Mitelman F: Catalog of Chromosome Aberrations in Cancer, Karger, Basel 1983, ISBN 3-8055-3813-8; 2nd Ed. Alan R. ... Mitelman, F; Johansson, B; Mertens, F (2004). "Fusion genes and rearranged genes as a linear function of chromosome aberrations ... Together with Fredrik Mertens and Bertil Johansson he maintains a database of all published chromosome aberrations in ...
... in humans two chromosomes fused to form chromosome 2. Chromosomal aberrations are disruptions in the normal chromosomal content ... Chromosomes can also be fused artificially. For example, the 16 chromosomes of yeast have been fused into one giant chromosome ... Chromosomes in humans can be divided into two types: autosomes (body chromosome(s)) and allosome (sex chromosome(s)). Certain ... and two sex chromosomes. This gives 46 chromosomes in total. Other organisms have more than two copies of their chromosome ...
Henry H.Q. Heng (2006-05-10). "Stochastic cancer progression driven by non-clonal chromosome aberrations". Journal of Cellular ... "chromosome catastrophes," "structural mutations," "Frankenstein chromosomes," and more). Despite the various individual ... the idea that there is an emergent level of information from the order of genes on a chromosome, two-phased evolution, a model ... The Genome Architecture Theory focuses more on a genome or chromosome-oriented approach to biology, in contrast to the ...
The Cancer Chromosome Aberration Project (cCAP) is a CGAP supported initiative used for defining chromosome structure and to ... "The Cancer Chromosome Aberration Project (CCAP)". Retrieved 2014-09-05. "All About the FISH-mapped BACs". Retrieved 2014-09-07 ... with notable ones including the Cancer Chromosome Aberration Project (CCAP) and the Genetic Annotation Initiative (GAI). CGAP ... U. Brinkmann; G. Vasmatzis; B. Lee; N. Yerushalmi; M. Essand; I. Pastan (September 1998). "PAGE-1, an X chromosome-linked GAGE- ...
"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". cgap.nci.nih.gov. Retrieved 2018-11-27. Nathanson, ... Fikes, Bradley J. (9 February 2017). "Cancer genes hide outside chromosomes". sandiegouniontribune.com. Retrieved 2019-01-31. " ...
"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". Archived from the original on 2016-05-25. Retrieved ... Laâbi Y, Gras MP, Carbonnel F, Brouet JC, Berger R, Larsen CJ, Tsapis A (November 1992). "A new gene, BCM, on chromosome 16 is ... September 1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics ... Genes on human chromosome 16, Wikipedia articles incorporating text from the United States National Library of Medicine, ...
"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". Archived from the original on 2016-05-29. "Atlas of ... Loss of heterozygocity on chromosome arm 3p is found in more than 80% of SCLCs, including the loss of FHIT. One hundred ...
August 2002). "Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet. ... This second gene is also located on the short arm of chromosome 12 (12p12.1).[citation needed] In terms of the mechanism of ... The gene is located on short arm of chromosome 12 (12p12). Mutations in another gene (KCNJ8) has also been associated with this ...
10] Chromosome connections and aberrations in the Campanula persicifolia group. Svensk Botanisk Tidskrift 58: 1-17. 1964. ... Chromosome numbers of some Arctic or boreal flowering plants. Meddelelser om Grønland 147, 6: 1-32. 1950. Contributions to the ... Keywords: algae, Greenland' Chromosome behaviour and syncyte formation in Phleum phleoides (L.) Karst. Botaniska Notiser 1950: ... Chromosome studies in the Ranunculus polyanthemus complex. Botanisk Tidsskrift 54: 160-166. 1958. & M.W. Bentzon. Density ...
Luippold HE, Gooch PC, Brewen JG (February 1978). "The production of chromosome aberrations in various mammalian cells by ... It can cause chromatid aberrations in cell models. Altretamine Wong, Jeannette R.; Morton, Lindsay M.; Tucker, Margaret A.; ...
Mitelman F; Johansson B; Mertens F. "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". Archived from the ... This database is called Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. Presence of certain chromosomal ... part of the ABL1 gene in the breakpoint on chromosome 9 and the 5' part of a gene called BCR in the breakpoint in chromosome 22 ... later designated the Philadelphia chromosome. In 1973, Janet Rowley in Chicago showed that the Philadelphia chromosome had ...
... are rare aberrations of human chromosome 1. In a common situation a human cell has one pair of identical chromosomes on ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... chromosome 1. With the 1q21.1 CNVs one chromosome of the pair is not complete because a part of the sequence of the chromosome ... The result is that one chromosome is of normal length and the other one is too long or too short.[citation needed] The ...
"Effect of epithalon on the incidence of chromosome aberrations in senescence-accelerated mice". Bull Exp Biol Med. 133 (3): 274 ... epitalon did not appear to correct pre-existing structural aberrations of chromosomes associated with telomere degradation, but ... An in vivo study in aging mice found that epitalon treatment significantly reduced the incidence of chromosomal aberrations, ... did appear to exert a protective effect against the future development of additional chromosomal aberrations. A human ...
Polycentric chromosomes are produced by chromosomal aberrations such as deletion, duplication, or translocation.[citation ... In genetics, a polycentric chromosome is any chromosome featuring multiple centromeres. ... Polycentric chromosomes usually result in the death of the cell because polycentric chromosomes may fail to move to opposite ... As a result, the chromosome is fragmented, which causes the death of the cell. In some algae, such as Spirogyra, polycentric ...
2011). "Chromosome Segregation Errors as a cause of DNA Damage and Structural Chromosome Aberrations". Science. 333 (6051): ... Cells with defective chromosome segregation will form micronuclei which contain whole chromosomes or fragments of chromosomes. ... Chromosome segregation errors can lead to DNA damage and chromosomal aberrations such as aneuploidy which is linked to tumour ... The resulting fragmented chromosome segments can be joined together to give rise to a rearranged chromosome, which can ...
"Sensitive detection of chromosome copy number aberrations in prostate cancer by fluorescence in situ hybridization". The ... X chromosome reactivation (XCR) is the process by which the inactive X chromosome (the Xi) is re-activated in the cells of ... Therian female mammalian cells have two X chromosomes, while males have only one, requiring X-chromosome inactivation (XCI) for ... the paternal X chromosome is already partially silenced at the zygote stage by imprinted XCI, suggesting that sex-chromosome ...
Abe, Syuiti; Sasaki, Motomichi (1977). "Chromosome Aberrations and Sister Chromatid Exchanges in Chinese Hamster Cells Exposed ...
These DNA damages, chromosome aberrations and mutations may in turn cause more RecQ-independent aging phenotypes.[citation ... 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, more chromosome breaks and translocations and extensive ...
"Structural aberrations of chromosome 7 revealed by a combination of molecular cytogenetic techniques in myeloid malignancies". ... "C7orf43 chromosome 7 open reading frame 43 [ Homo sapiens (human) ]". NCBI Gene. Retrieved 9 May 2015. "BC037034 cDNA sequence ... In humans, MAP11 is located in the long arm of human chromosome 7 (7q22.1), and is on the negative (antisense) strand. Genes ... Through its location in the q arm of chromosome 7, C7orf43 has been linked to various diseases. Several diseases have been ...
Genetic Broadly speaking, genetic diseases are caused by aberrations in genes or chromosomes. Many genetic diseases are ...
November 2011). "Chromosome aberrations in peripheral blood lymphocytes of individuals living in high background radiation ... On the other hand, there may be non-cancer effects from the background radiation such as chromosomal aberrations. At the same ...
"Renal and Urinary Tract Abnormalities Associated with Chromosome Aberrations," International Journal of Pediatric Nephrology 8 ... "An Infant with Deletion of the Distal Long Arm of Chromosome 15 (q26.1----qter) and Loss of Insulin-like Growth Factor 1 ... Most cases have been attributed to a mutation on chromosome 10p which affects the GATA3 gene. Inheritance is likely autosomal ...
Schröder H, Heimers A, Frentzel-Beyme R, Schott A, Hoffman W (2003). "Chromosome Aberration Analysis in Peripheral Lymphocytes ...
... or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1.[citation needed] In a ... In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... Similar observations were done for chromosome 16 on 16p11.2 (deletion: autism/duplication: schizophrenia), chromosome 22 on ...
Hande MP, Azizova TV, Burak LE, Khokhryakov VF, Geard CR, Brenner DJ (2005). "Complex chromosome aberrations persist in ... "Stable intrachromosomal biomarkers of past exposure to densely ionizing radiation in several chromosomes of exposed individuals ... individuals many years after occupational exposure to densely ionizing radiation: An mFISH study". Genes, Chromosomes and ...
The most frequently used tests in research projects of this lab are based on cell culture and include: chromosome aberrations ... Chromosome aberrations analysis; Cytokinesis-block micronucleus cytome assay; Sister-chromatid exchange assay; Allium assay; ... Expert activity of the Laboratory for Cytogenetics and Genotoxicology mainly includes chromosome analysis and karyotyping of ...
A pseudogene has been identified on chromosome 17. The human gene PSMD7 has 7 Exons and locates at chromosome band 16q22.3. The ... Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 16). ...
The role of HAP1 in HD pathogenesis may involve aberration of cell cycle processes, as high immunostaining of HAP1 during the ... It may have a part in spindle orientation, microtubule stabilization or chromosome movement. More importantly, HAP1 may also ... Genes on human chromosome 17, Human gene pages with Wikidata item, Wikipedia articles incorporating text from the United States ...
... has a role in X chromosome inactivation, in maintenance of stem cell fate, and in imprinting. Aberrant expression of PRC2 ... Chase A, Cross NC (May 2011). "Aberrations of EZH2 in cancer". Clinical Cancer Research. 17 (9): 2613-2618. doi:10.1158/1078- ...
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 ...
Pseudogenes have been identified on chromosomes 2 and 12. The gene has 6 exons and locates at chromosome band 17q12. The human ... Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome). ...
"Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8". ... interfering with DNA repair by non-homologous end joining and causing chromosomal aberrations. The let-7a microRNA normally ... Genes on human chromosome 8, All articles with unsourced statements, Articles with unsourced statements from December 2019, EC ...
... have similar chromosomes but with increasing distance chromosomes tend to break and fuse and thus result in mosaic chromosomes ... such as translocations and inversions which are hallmark aberrations seen in many types of leukemia and lymphoma. Spectral ... FISH can be used to study the evolution of chromosomes. Species that are related have similar chromosomes. This homology can be ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and are more sensitive ... and thus can be correctly repaired using the complementary undamaged sequence in a homologous chromosome if it is available for ...
Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ... and aberration of the PP2A protein phosphatase. That is to say, the cell has an activated telomerase, eliminating the process ... Exposed chromosome ends are interpreted as double-stranded breaks (DSB) in DNA; such damage is usually repaired by reattaching ... Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. ...
PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs ... a rare egg with the nondisjunction acquires a second structural aberration, isochromosome formation, that results in the ... The sSMC in PKS consists of multiple copies of the short (i.e. "p") arm of chromosome 12. Consequently, the multiple copies of ... One suggested mechanism for the development of the sSMC in PKS involves three sequential events: 1) chromosome 12 suffers a ...
The paternal age is a factor in schizophrenia because of the increased likelihood of mutations in the chromosomes of cells that ... Increased paternal age has been linked to schizophrenia, possibly due to "chromosomal aberrations and mutations of the aging ... "Getting crowded on chromosome 11q22 - make way for phosphohippolin". Schizophrenia Research Forum. 14 March 2007. Archived from ... Within them, deletions in regions related to psychosis were observed, as well as deletions on chromosome 15q13.3 and 1q21.1. ...
Another study hypothesized that epigenetic changes on the Y chromosome could explain differences in lifespan among the male ... However, the exchange of epigenetic information between generations can result in epigenetic aberrations, which are epigenetic ... Specifically, the paternally derived chromosome carried an abnormal maternal mark at the SNURF-SNRPN, and this abnormal mark ... were causing these syndromes were localized on a chromosome with a specific parental and grandparental origin. ...
Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 9). ...
These aberrations can be monitored using fluorescent in situ hybridization (FISH) with DNA probes to assess the effects of ... Eastmond, D.A.; Rupa, DS; Hasegawa, LS (2000). "Detection of hyperdiploidy and chromosome breakage in interphase human ... Benzene causes chromosomal aberrations in the peripheral blood leukocytes and bone marrow explaining the higher incidence of ... which maintains chromosome structure), disruption of microtubules (which maintains cellular structure and organization), ...
The newly synthesized truncated chromosome can then be altered through the insertion of new genes for desired traits. The top- ... Minichromosomes may be created by natural processes as chromosomal aberrations or by genetic engineering. Minichromosomes can ... Minichromosome technology allows for the stacking of genes side-by-side on the same chromosome thus reducing likelihood of ... By minimizing the amount of unnecessary genetic information on the chromosome and including the basic components necessary for ...
When the chromosome is replicated, this gives rise to one daughter chromosome that is heavily methylated downstream of the ... and chromosomal aberrations. However, it has become apparent that cancer is also driven by epigenetic alterations. Epigenetic ... All DNA damage response requires either ATM or ATR because they have the ability to bind to the chromosomes at the site of DNA ... This pathway allows a damaged chromosome to be repaired using a sister chromatid (available in G2 after DNA replication) or a ...
These mutations in the chromosomes can affect the appearance, the number of sets, or the number of individual chromosomes. ... Both alterations can lead to chromosomal aberrations, unintentional genetic rearrangement, and a variety of cancers later in ... Since chromosomes are fixed for each specific species, it can also change the DNA and cause defects in the genepool of that ... Each eukaryotic chromosome is composed of many replicating units of DNA with multiple origins of replication. In comparison, ...
In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the ... In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 46,XY ... The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads ... In contrast XX gonadal dysgenesis has a normal female chromosome situation.[citation needed] Another type of XX gonadal ...
The mole cricket chromosome number varies between 19 and 23 chromosomes depending on the part of the world in which they are ... Paulsson K, Johansson B (February 2007). "Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and ... In the fruit fly, Drosophila, one X chromosome in the male is almost the same as two X chromosomes in the female in terms of ... Polysomy of chromosomes 1, 2, 4, 5, and 25 are also frequently involved in canine tumors. Chromosome 1 may contain a gene ...
The human gene PSMD14 has 12 Exons and locates at chromosome band 2q24.2. The human protein 26S proteasome non-ATPase ... Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 2). ...
... a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome ( ... The derivative chromosome must be specified in parentheses followed by all aberrations involved in this derivative chromosome. ... A derivative chromosome (der) is a structurally rearranged chromosome generated either by ... e.g. an inversion and a deletion of the same chromosome, or deletions in both arms of a single chromosome).[1] The term always ...
The human IL-11 gene, consisting of 5 exons and 4 introns, is located on chromosome 19, and encodes a 23 kDa protein. IL-11 is ... This process is highly regulated due to detrimental consequences that can arise from aberrations of the placentation process: ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, Interleukins). ...
... including groups with the chromosome rearrangements inv(16)(p13q22) and t(8;21)(q22;q22). The chromosome translocation t(8;21)( ... and RUNX1 genes results in ETV6-RUNX1 gene fusion and is the most common genetic aberration in childhood acute lymphoblastic ... The pericentric chromosome inversion inv(16)(p13q22) creates the CBFB-MYH11 fusion gene, which encodes the CBFβ-SMMHC fusion ... The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 (ETV6) ...
"Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific ... Fall and resurrection of chromosome territories during the 1950s to 1980s. Part III. Chromosome territories and the functional ... "Specific staining of human chromosomes in Chinese hamster x man hybrid cell lines demonstrates interphase chromosome ... Cremer T, Cremer C, Schneider T, Baumann H, Hens L, Kirsch-Volders M (1982). "Analysis of chromosome positions in the ...
... red panda and five Mustelid species revealed by comparative chromosome painting and G-banding". Chromosome Research. 10 (3): ... The domestic cat has slit pupils, which allow it to focus bright light without chromatic aberration. At low light, a cat's ... The domesticated cat and its closest wild ancestor are diploid and both possess 38 chromosomes and roughly 20,000 genes. The ...
Biodosimetry : chromosome aberration in lymphocytes and electron paramagnetic resonance in tooth enamel from atomic bomb ... Methods for the analysis of human chromosome aberrations / edited by K. E. Buckton, H. J. Evans  ... Méthodes danalyse des aberrations chromosomiques humaines / rédigé par K. E. Buckton, H. J. Evans  ...
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Biodosimetry : chromosome aberration in lymphocytes and electron paramagnetic resonance in tooth enamel from atomic bomb ... Methods for the analysis of human chromosome aberrations / edited by K. E. Buckton, H. J. Evans  ... Méthodes danalyse des aberrations chromosomiques humaines / rédigé par K. E. Buckton, H. J. Evans  ...
Chromosome aberrations in cultured rat bone marrow cells treated with inorganic fluorides. Author: Khalil AM. ... A specificity of fluoride ion in inducing chromosome aberrations (CA) was indicated by the observation that both NaF and KF ... and measuring the incidence of cells with aberrations and number of breaks per cell. Both forms of fluoride were found to be ...
Detection and isolation of induced chromosome aberrations in Lepidoptera. 1979. Ennis, T.J. Forest Pest Management Institute, ...
Various genomic disorders on chromosome 22, including cats eye syndrome caused by extra copies of the proximal region of the ... span,,b,Objective,/b, A significant number of genetic variations have been identified in chromosome 22, using molecular genetic ... 22q chromosome, are now well-defined. O,/span, … ... Clinical Features of Aberrations Chromosome 22q: A Pilot Study ... Clinical Features of Aberrations Chromosome 22q: A Pilot Study Emine Ikbal Atli et al. Glob Med Genet. 2021. . ...
Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. ... Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. ... Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. ...
... for individuals with 1 chromosome 9 aberration and ,/=2 chromosome 9 aberrations, respectively. By performing family history ... One hundred metaphases from PBLs of each subject were analyzed for chromosome 9 aberrations using the whole chromosome painting ... for lung cancer associated with chromosome 9 aberrations. When subjects were categorized by frequencies of the chromosome 9 ... Cytogenetic aberrations on chromosome 9 have been reported to be one of the most frequent genetic changes in lung tumorigenesis ...
Effect of pretreatment with venom of Apis mellifera bees on the yield of gamma-ray induced chromosome aberrations in human ... Effect of pretreatment with venom of Apis mellifera bees on the yield of gamma-ray induced chromosome aberrations in human ...
Keyword : chromosome aberrations. Polymorphism of DNA repair gene XPD Lys751Gln and chromosome aberrations in lymphocytes of ...
Chromosome aberrations and radiation-induced cell death. II. Predicted and observed cell survival. (English) ... Chromosome aberrations and radiation-induced cell death. II. Predicted and observed cell survival.. scientific article ...
Methods for the analysis of human chromosome aberrations / edited by K. E. Buckton, H. J. Evans. by Buckton, K. E , Evans, H. J ... Methods for the analysis of human chromosome aberrations.Availability: Items available for loan: WHO HQ (1)Call number: QH 462. ... Méthodes danalyse des aberrations chromosomiques humaines / rédigé par K. E. Buckton, H. J. Evans. by Buckton, K. E , Evans, H ... analyse des aberrations chromosomiques humaines.Availability: Items available for loan: WHO HQ (3)Call number: QH 462.A1 73ME ...
G2-Chromosome aberrations induced by high-let radiations. T. Kawata, M. Durante, Y. Furusawa, K. George, H. Ito, H. Wu, F. A. ... G2-Chromosome aberrations induced by high-let radiations. / Kawata, T.; Durante, M.; Furusawa, Y.; George, K.; Ito, H.; Wu, H ... title = "G2-Chromosome aberrations induced by high-let radiations",. abstract = "We report measurements of initial G2-chromatid ... Kawata, T, Durante, M, Furusawa, Y, George, K, Ito, H, Wu, H & Cucinotta, FA 2001, G2-Chromosome aberrations induced by high- ...
title = "Chromosome aberration analysis in radiological protection dosimetry",. abstract = "Chromosome dosimetry has become ... Chromosome aberration analysis in radiological protection dosimetry. Radiation Protection Dosimetry. 1981;1(1):19-28. ... Lloyd, David ; Purrott, R. J. / Chromosome aberration analysis in radiological protection dosimetry. In: Radiation Protection ... Chromosome aberration analysis in radiological protection dosimetry. / Lloyd, David; Purrott, R. J. ...
... stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome ... Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short ... Chromosome Aberrations* * Chromosome Mapping * Chromosomes, Human, Pair 7* * DNA / blood * Diarrhea, Infantile / congenital ... Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride ...
These data predict no increased risk of chromosome abnormality in future pregnancies after either (1) spontaneous abortions ... likely explanation is that the increased recurrence risk for trisomy is restricted to trisomy for only one or a few chromosomes ...
DNA and chromosome aberrations; structural biology and molecular applications; tumor biology and microenvironment; and tumor ...
Study Evaluating SKI-606 (Bosutinib) In Japanese Subjects With Philadelphia Chromosome Positive Leukemias. The safety and ... This is a two-part safety and efficacy study of SKI-606 in subjects who have Philadelphia chromosome positive leukemias (CML). ... Philadelphia Chromosome. Neoplasms by Histologic Type. Neoplasms. Myeloproliferative Disorders. Bone Marrow Diseases. ... Subjects with Philadelphia chromosome negative Chronic Myelogenous Leukemia.. *Overt leptomeningeal leukemia. Subjects must be ...
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, ...
Molecular cytogenetic diagnosis of submicroscopic chromosome aberrations (FISH) Kennedy Center. Purpose(s) : Post-natal ... Diagnosis of uniparental disomy of chromosome 14 (methylation of 14q32 region; MEG3 and DLK1 genes) AP-HP.Sorbonne Universit - ... Diagnosis of uniparental disomie of chromosome 11 AP-HP.Universit Paris Saclay - H pital Antoine B cl re ... Diagnosis of uniparental disomie of chromosome 14 AP-HP.Universit Paris Saclay - H pital Antoine B cl re ...
Sex Chromosome Aberrations and Learning Disorders Hyperactivity Tourette"s Syndrome 10. Visual-Spatial Disorders. Overview ...
... the incidence of unstable type aberrations and intracellular complexity of chromosome aberrations were much higher in the ... Micronuclei and Chromosome Aberrations Found 1n Bone Marrow Cells and Lymphocytes from Thorotrast Patients and Atomic Bomb ... Micronuclei and Chromosome Aberrations Found 1n Bone Marrow Cells and Lymphocytes from Thorotrast Patients and Atomic Bomb ... Micronuclei and Chromosome Aberrations Found 1n Bone Marrow Cells and Lymphocytes from Thorotrast Patients and Atomic Bomb ...
Chromosome Aberrations / statistics & numerical data * Chromosomes, Human, Pair 1 * Chromosomes, Human, Pair 11 ...
  • The aims of the present work were to investigate the different types of chromosomal aberrations and their relative frequencies in a group of children with suspected genetic disorders and to identify precisely the role of cytogenetic investigation in confirming the diagnosis, thus allowing proper genetic counselling to be offered. (who.int)
  • Therefore, we investigated the possible genotoxic effects of propofol and diazepam in those patients, using a chromosomal aberration (CA) assay. (nih.gov)
  • 100-250 metaphase cells per dose group were examined for chromosomal aberrations at 900x magnification by phase-contrast microscopy. (europa.eu)
  • 15. Chromosomal aberrations in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma unspecified: A matrix-based CGH approach. (nih.gov)
  • The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. (cdc.gov)
  • Cultures were examined for chromosomal aberrations and aneuploidy 24 hours after treatment. (cdc.gov)
  • They were examined for chromosomal aberrations at every passage 3 to 5 days after subculturing. (cdc.gov)
  • Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. (mpg.de)
  • Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. (mpg.de)
  • Overall, 5.8% of 2013 CML patients in the study carried abnormalities in chromosome 3, with chromosomal 3q26.2 rearrangements making up 50% of cases. (news-medical.net)
  • Multivariate analysis also determined that overall survival was significantly poorer in 23 patients with only 3q26.2 rearrangements than in 248 patients whose chromosomal aberrations did not affect chromosome 3, including those who had trisomy 8. (news-medical.net)
  • By contrast, patients with chromosomal aberrations not affecting chromosome 3 had a poorer survival if they had multiple aberrations rather than just one abnormality. (news-medical.net)
  • Such imbalances indicate large-scale chromosomal aberrations (i.e., losses and gains of long segments of DNA) that have proliferated to significant frequency in the blood. (ukbiobank.ac.uk)
  • Strikingly, an increased propensity for asymmetric fork progression and profuse chromosomal aberrations upon mild DNA damage confirmed that TSC loss indeed proved detrimental to stress adaptation. (oncotarget.com)
  • Effect of low-level pulsed electromagnetic fields on human chromosomes in vitro: analysis of chromosomal aberrations. (emf-portal.org)
  • In Vitro Assessment of Clastogenicity of Mobile-Phone Radiation (835 MHz) Using the Alkaline Comet Assay and Chromosomal Aberration Test,'' Environmental Toxicology, 23, pp.319-327, 2008 (Korea). (stopumts.nl)
  • CONCLUSION: Loss of chromosome 3 as well as loss of chromosomal region 9p21 (that entails tumour suppressor gene CDKN2A) plays a role in iris melanoma. (eyehospital.nl)
  • Anthracycline treatment is associated with secondary clonal chromosomal aberrations that can lead to therapy-related secondary myeloid neoplasms. (elsevier.com)
  • Results: Cytogenetic examination of short-term cultured cells from the Hoffa's pad revealed a balanced t(12;18)(q14;q21) translocation as the sole chromosomal aberration. (iiarjournals.org)
  • Screening for aneuploidies and structural chromosomal aberrations (deletions or duplications) accross the fetal genome, providing karyotype-level insight. (prenataladvance.it)
  • As two cytogenetic parameters of radiation exposure, the frequency of micronucleus in erythroblasts, lymphocytes and red cells (Howell-Jolly body) as well as chromosome aberrations in bone marrow cells and in lymphocytes were studied in 24 thorotrast patients and in 32 atomic bomb (A-bomb) survivors who were exposed within one kilometer from the Hiroshima hypocenter. (hiroshima-u.ac.jp)
  • Chromosome aberrations in lymphocytes of workers exposed to styrene. (sjweh.fi)
  • Chromosome aberrations in cultured human lymphocytes exposed to trivalent and pentavalent arsenic. (sjweh.fi)
  • code = 46 result sql = The effects of food protector biphenyl on sister chromatid exchange, chromosome aberrations, and micronucleus in human lymphocytes. (naturalnews.com)
  • code = 62 result sql = The aim of this study was to determine the possible genotoxic effects of biphenyl (E230), which is used as an antimicrobial agent in food by using sister chromatid exchanges (SCEs), chromosome aberrations (CAs), and micronucleus (MN) tests in human peripheral lymphocytes. (naturalnews.com)
  • Cytogenetic effects of pulsing electromagnetic field on human lymphocytes in vitro: chromosome aberrations, sister-chromatid exchanges and cell kinetics. (emf-portal.org)
  • Bender and Gooch [3] proposed the assessment of the frequency dicentric chromosomes (DCs) in peripheral blood lymphocytes of exposed individuals for the detection of human radiation exposure. (genome-integrity.org)
  • As a result, different cells within the same tumor can look quite different, with different numbers of chromosomes and unique mutations, for example. (quantamagazine.org)
  • Double-strand breaks are more devastating, with poor repair resulting in mutations, chromosome aberrations and cell death. (scielo.org.za)
  • In addition, iris melanomas might harbour UV-induced mutations of tumour suppressor genes, such as PTEN and CDKN2A.METHODS: Twenty iris melanomas were analysed for chromosome 1p, 3, 6, 8, 9p and 10q abnormalities using fluorescence in situ hybridisation. (eyehospital.nl)
  • Undifferentiated thyroid carcinomas (UTC) may display RET rearrangements (less than 10%) or point mutations in RAS (20-60%) or BRAF (0-63%), as well as mutations in TP53 (up to 60%), which is in accordance with the hypothesis that most UTC originate from well-differentiated lesions through the multi-step accumulation of genetic aberrations [ 2 , 4 ]. (biomedcentral.com)
  • The nature of ionizing these effects can vary significant- fects, including DNA damage, chro- radiation ly, depending on the resulting dose mosomal aberrations, mutations, cell distribution or distribution of radionu- transformation, and cell killing (NRC, Ionizing radiation is a term used for clides throughout the body. (who.int)
  • Recent studies have demonstrated, by inter-phase fluorescence in situ hybridization (iFISH) [ 5 ] and flow cytometry [ 6 ], the heterogeneity of MM cells at genetic (chromosome number, genetic translocations and mutations), clonal and cell differentiation levels. (oncotarget.com)
  • 1993). These genetically related chromosomes in different genomes are called homoeologous as compared to essentially genetically identical homologous pairs of chromosomes in diploid species. (fao.org)
  • There are 23 pairs of chromosomes, for a total number of 46 chromosomes in a diploid cell, or a cell having all the genetic material. (encyclopedia.com)
  • remember that humans have 23 pairs of chromosomes. (corvidresearch.blog)
  • Updates* a previous version of this post contained a typo stating that humans have 24 pairs of chromosomes. (corvidresearch.blog)
  • The incidence of both micronucleus and chromosome aberrations in these two exposed groups were significantly higher than that in non-exposed controls. (hiroshima-u.ac.jp)
  • Because of its simple procedures, micronucleus test is also helpful as screening for prediction of chromosome aberrations. (hiroshima-u.ac.jp)
  • 31. Celik A, Comelekoglu U, Yalin S. A study on the investigation of cadmium chloride genotoxicity in rat bone marrow using micronucleus test and chromosome aberration analysis. (bvsalud.org)
  • And my lecture will be on the role played by chromosome translocations in cancer development. (hstalks.com)
  • Tulay P, Gultomruk M, Findikli N, Bahceci M. (2014) Poor embryo development and preimplantation genetic diagnosis outcomes of translocations involving chromosome 10: Do we blame genetics? (neu.edu.tr)
  • A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. (semanticscholar.org)
  • Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. (nih.gov)
  • These changes can affect many genes along the chromosome and disrupt the proteins made from those genes. (medlineplus.gov)
  • As a result, these abnormal chromosomes have an extra copy of some genes and are lacking copies of genes on the missing arm. (medlineplus.gov)
  • Whereas earlier studies could look only at rough measures, such as the number of chromosomes in a cell, scientists can now record the number of copies of multiple genes in each cell and in some cases read the entire genome, which gives a more precise picture of the genetic diversity among single cells. (quantamagazine.org)
  • Sears and Sears, 1978) began studies with wheat aneuploids that ushered in the era of formal cytogenetic analysis and gene mapping of individual chromosomes and arms in wheat (a catalogue of mapped genes is published each year, see McIntosh et al . (fao.org)
  • Genes are expressed when the chromosome uncoils with the help of enzymes called helicases and specific DNA binding proteins. (encyclopedia.com)
  • We provide the genomic background of seven independent thyroid carcinoma models representative of the clinical tumors of the corresponding histotypes, and highlight regions of recurrent aberrations that may guide future studies aimed at identifying target genes. (biomedcentral.com)
  • The University of Leicester's Virtual Genetics Education Center provides an explanation of structural chromosome aberrations . (medlineplus.gov)
  • Your Genome from the Wellcome Genome Campus discusses chromosome disorders , including types of structural abnormalities in chromosomes that are involved in genetic diseases. (medlineplus.gov)
  • In an in vitro cytogenicity study in mammalian cells (chromosome aberration), conducted according to OECD Test Guideline 473 and in compliance with GLP (Bioservice Scientific Laboratories, 2012, reliability score 1), the potential of triethoxy(3-thiocyanatopropyl)silane to induce structural chromosome aberrations in Chinese hamster V79 cells was evaluated. (europa.eu)
  • It is concluded that the test substance was clastogenic to mammalian cells (caused structural aberrations in chromosomes) under the conditions of the test. (europa.eu)
  • 1991) Standard karyotype and nomenclature system for description of chromosome bands and structural aberrations in wheat (Triticum aestivum). (usda.gov)
  • METHODS: We examined the incidence of chromosome and chromatid breaks, fragments, structural rearrangements and aneuploidies in 100 metaphases for each blood sample. (elsevier.com)
  • [ 4 ] Numerous structural and numerical aberrations in chromosomes have been reported, the most common of which is translocation (11;14). (medscape.com)
  • The relative length of chromosome 21 is 1.9 ± 0.17 % of the total length of the human genome, and its size is approximately 60 Mb. (intechopen.com)
  • The National Human Genome Research Institute provides a list of questions and answers about chromosome abnormalities , including a glossary of related terms. (medlineplus.gov)
  • Numerous studies since then have confirmed that 1x=7 is the basic chromosome number of the tribe Triticeae (or the basic Triticeae genome is organized into seven chromosomes). (fao.org)
  • Furthermore, a specific chromosome or part of a chromosome in a basic genome is genetically related to a specific chromosome or a part of it in all other genomes of the Triticeae species. (fao.org)
  • In prokaryotes, or cells without a nucleus, the chromosome represents circular DNA containing the entire genome. (encyclopedia.com)
  • Click below on the chromosome of interest to view the UCSC Genome Browser with a track showing NCBI RefSeq Gene predictions and a track showing NIGMS Repository samples bearing copy number variants (CNVs) on that chromosome. (coriell.org)
  • The underlying assumption is that there are two copies of each autosomal chromosome in the human genome, and the goal of these algorithms is to estimate the size and location of regions which are significantly different from this assumption. (biomedcentral.com)
  • Clonal chromosome aberrations were detected in 8 short‐term cultured malignant peripheral nerve sheath tumors (MPNST). (semanticscholar.org)
  • Three previous investigations have reported a relationship between clonal chromosome abnormalities in marrow of patients with acute nonlymphocytic leukemia and employment in occupations involving mutagenic chemicals, but the effects of other exposures were not described. (northwestern.edu)
  • 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. (scilifelab.se)
  • Thus it happened that the second smallest chromosome, chromosome 21, which had been analysed three times in the patient's karyotype, was believed to cause Down Syndrome (DS). (intechopen.com)
  • On each karyotype page is a filter tool to display samples based on Chromosome # of the abnormality. (coriell.org)
  • chromosome 17p deletion and/or TP53 mutation) exhibit an unfavorable clinical outcome. (scilifelab.se)
  • Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of the 22q chromosome, are now well-defined. (nih.gov)
  • Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. (nih.gov)
  • We report on the clinical and molecular characterization of 31 individuals with distal deletions and duplications of chromosome 22q. (nih.gov)
  • Deletions can be large or small, and can occur anywhere along a chromosome. (medlineplus.gov)
  • Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. (mpg.de)
  • Loss of chromosome 9p was demonstrated in seven tumours, but no deletions of the PTEN region on chromosome 10 were found. (eyehospital.nl)
  • Aneuploidy Screening on chromosomes 13, 18, 21 and fetal gender determination. (prenataladvance.it)
  • MATERIALS AND METHODS: We exposed normal human bronchial lung epithelial (NHBE) cells in vitro to 0.5 and 1 Gy low-linear energy transfer (LET) γ-rays and a low fluence of high-LET α-particles and assayed for chromosome aberrations in premature chromosome condensation (PCC) spreads by 24-color multiplex-fluorescence in situ hybridization (M-FISH). (ox.ac.uk)
  • Chromosomes are usually presented and analysed in the metaphase of mitosis after in vitro cultivation, which is not identical to their appearance in vivo . (intechopen.com)
  • Cobalt Borate Neodecanoate Complex: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
  • Cobalt Naphthenate: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
  • The genotoxic effects of inorganic fluorides were investigated by treating cultured rat bone marrow cells with varying concentrations (0.1-100 microM) of potassium fluoride (KF) and sodium fluoride (NaF) for different durations (12, 24 and 36 h) and measuring the incidence of cells with aberrations and number of breaks per cell. (fluoridealert.org)
  • Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. (harvard.edu)
  • Cytogenetic response (CyR) is based on the prevalence of Philadelphia chromosome positive (Ph+) cells. (clinicaltrials.gov)
  • Reduced chromosome aberration complexity in normal human bronchial epithelial cells exposed to low-LET γ-rays and high-LET α-particles. (ox.ac.uk)
  • Autosomes in somatic cells are comprised of two homologous, genetically identical chromosomes. (intechopen.com)
  • Usually the total chromosome count was determined in 10-15 cells, but if mosaicism was suspected then 30 or more cell counts were undertaken [10]. (who.int)
  • Many cancer cells also have changes in their chromosome structure. (medlineplus.gov)
  • Both arsenite and arsenate are genotoxic and capable of inducing sister chromatid exchange and chromosome aberrations in human and rodent cells. (news-medical.net)
  • Amosite at 0.14 and 0.27microg/cm2 induced a significant incidence of chromosome aberrations, mostly chromatid breaks and gaps, in mesothelial cells. (cdc.gov)
  • Altered cells had a modal chromosome number of 45 and lacked the Y- chromosome. (cdc.gov)
  • The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells. (cdc.gov)
  • Cancer cells possess unstable genomes - meaning their chromosomes can gain and lose pieces with disturbing speed - and they grow rapidly, creating a genetically diverse population. (quantamagazine.org)
  • The latest research shows that chromosome aberrations and DNA damage can accumulate in these cells. (cnio.es)
  • We observed cell reprogramming in the absence of SIRT1, but over time the produced iPS cells lengthen telomeres less efficiently and suffer from chromosome aberrations and DNA damage," says De Bonis. (cnio.es)
  • Chromosome abnormalities in reprogrammed cells in which SIRT1 protein has been removed (in red). (cnio.es)
  • A chromosome is a threadlike structure found in the nucleus of most cells that carries the genetic material in the form of a linear sequence of deoxyribonucleic acid (DNA). (encyclopedia.com)
  • In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (encyclopedia.com)
  • If the one of the sex cells has the full complement of chromosomes (diploidy), then the zygote would have an extra set of chromosomes. (encyclopedia.com)
  • During meiosis, two rounds of cell division ensure that the sex cells receive the haploid number of chromosomes. (encyclopedia.com)
  • RESULTS: The proportion of cells with chromatid and chromosome breaks ranged from 0% to 6% in patients before treatment and from 1% to 5% in controls. (elsevier.com)
  • Significant increases in the frequencies of chromosome aberrations were induced in a dose- and treatment time-dependent fashion when NaF was administered to RVBd cells at 0.5 and 1.0 mM for 24 and 48 h. (fluoridealert.org)
  • Stress, fear, and anxiety have serious affects, as U.S. CIA interrogators know and have been pleased to use even at the expense of accuracy, but they do not cause chromosome damage in germ cells, like soluble uranium(VI) exposure does. (iit.edu)
  • Chromosome 17 polysomy in circulating tumor cells in patients with metastatic breast cancer: a case series. (jefferson.edu)
  • The genetic aberrations are presumably acquired by mesenchymal stem cells of the infrapatellar fat pad inducing proliferation and differentiation into adipocytes or other mature connective tissue cells. (iiarjournals.org)
  • Processed cells were analyzed for the frequencies of dicentric and centric ring chromosomes. (genome-integrity.org)
  • Basic technical prerequisites for the establishment of capacity of biological dosimetry in the GAEC have been realized and expertise in the dicentric chromosome assay consolidated. (genome-integrity.org)
  • The conventional dicentric chromosome assay (DCA) which is sufficiently radiation-specific with reproducible dose-response relationship and low background frequency has since been accepted as a biomarker to assess human exposure to ionizing radiation and generally considered as the "gold standard" of the biodosimetric methods. (genome-integrity.org)
  • Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. (umassmed.edu)
  • Twenty two of them are autosomal and the last pair are sex chromosomes (you're either XX or XY, sound familiar? (corvidresearch.blog)
  • These data predict no increased risk of chromosome abnormality in future pregnancies after either (1) spontaneous abortions with trisomies of a kind that are always lethal in utero or (2) multiple early abortions in the presence of normal parental karyotypes. (nih.gov)
  • Méthodes d' analyse des aberrations chromosomiques humaines. (who.int)
  • the incidence of unstable type aberrations and intracellular complexity of chromosome aberrations were much higher in the former group. (hiroshima-u.ac.jp)
  • The location of this clock gene was delimited by the molecular mapping of chromosome aberrations at or very near the per locus. (cell.com)
  • The whole cytogenetic enterprise rests on the recognition of homoeology and gene content of individual chromosomes in different genomes of the Triticeae species. (fao.org)
  • BCL3 is juxtaposed to the immunoglobulin heavy chain gene locus on chromosome 14 (often in the switch alpha region) in a "head-to-head" configuration. (atlasgeneticsoncology.org)
  • Lecture and discussion cover topics of chromatin and chromosome structure, control of gene transcription, RNA processing, and DNA replication and repair. (wustl.edu)
  • The most likely explanation is that the increased recurrence risk for trisomy is restricted to trisomy for only one or a few chromosomes, for reasons such as parental trisomy mosaicism. (nih.gov)
  • To avoid conflict between previous and subsequent publications, the position of the two smallest chromosomes (21 and 22) was switched, resulting in the definition of DS as trisomy 21. (intechopen.com)
  • We present an unusual case of trisomy 18 due to a pseudodicentric chromosome 18 of paternal origin. (semanticscholar.org)
  • Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. (semanticscholar.org)
  • Amniocentesis was done on a 39-year-old woman at 16 weeks of gestation for rapid prenatal screen (chromosomes 13, 18, 21) and chromosome analysis and a diagnosis of trisomy 18 was reported. (semanticscholar.org)
  • We investigated whether spontaneous aberrations on chromosome 9 in PBLs are associated with the presence of lung cancer and with a family history of cancer. (nih.gov)
  • Spontaneous and Radiation-Induced Chromosome Aberrations in Primary Fibroblasts of Patients With Pediatric First and Second Neoplasms. (tu-darmstadt.de)
  • Our findings suggest that chromosome 9 aberrations in PBLs might be considered a marker of lung cancer predisposition and may be associated with familial aggregation of cancer. (nih.gov)
  • Our results suggest that chromosome 6, especially the long arm, carries important information for the clinical behavior of NHL. (nebraska.edu)
  • Conclusion: Our data indicate that Hoffa's disease is a neoplastic process with acquired genetic aberrations similar to those found in many benign tumors of connective tissues. (iiarjournals.org)
  • This poor prognosis may be related to overexpression of the EVI1 oncogene associated with the chromosome rearrangement, leading to BCR-ABL1 independent signalling, explain Shimin Hu, from the University of Texas MD Anderson Cancer Center in Houston, USA, and co-authors. (news-medical.net)
  • Finally, patients with abnormalities of chromosome 3 other than 3q26.2 rearrangement had poorer survival than those whose aberrations affected different chromosomes. (news-medical.net)
  • 10. Multipoint interphase FISH in childhood T-acute lymphoblastic leukemia detects subpopulations that carry different chromosome 3 aberrations. (nih.gov)
  • Overall survival was significantly shorter in patients with 3q26.2 rearrangements than those with different chromosome 3 rearrangements, although patients with deletion or addition of chromosome 3 had comparable survival to those with 3q26.2 changes. (news-medical.net)
  • Absence of short‐arm telomeres was shown by multicolor FISH, and the results of DNA analysis showed monosomy for loci D18S59 and D18S170 as well as paternal inheritance of the aberrant chromosome. (semanticscholar.org)
  • Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (bvsalud.org)
  • A 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, and hearing loss is reported on, and DNA polymorphisms for chromosome 18 showed that the abnormalities of chromosome 18 were paternal in origin. (semanticscholar.org)
  • Patients with aniridia that is not clearly part of an autosomal dominant trait, and those with coincident systemic malformations, should undergo chromosome analysis (karyotyping) and observation for possible Wilms tumor. (aao.org)
  • Els nostres resultats mostren doncs una forta tendència linial entre l'edat de l'individu i les anomalies estructurals i disomia del cromosoma 9, així com per a la diploidia, en espermatozoides humans. (uab.cat)
  • Agilent CGH Analytics software (v3.4) was used to visualize, detect and analyse aberration patterns from CGH microarray profiles. (sigmaaldrich.com)
  • Boveri proposed that cancer originates in a single cell by mitotic disturbances resulting in chromosome aberrations. (hstalks.com)
  • A translocation occurs when a piece of one chromosome breaks off and attaches to another chromosome. (medlineplus.gov)
  • Tulay P, Gultomruk M, Findikli N, Yagmur E, Bahceci M. (2014) Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements? (neu.edu.tr)
  • The presence of a chromosome 11q13 translocation has been associated with an unfavorable prognosis. (medscape.com)
  • We used chromosome banding analysis and comparative genomic hybridization to profile eight non-medullary thyroid carcinoma cell lines of papillary (TPC-1, FB2, K1 and B-CPAP), follicular (XTC-1) or anaplastic origin (8505C, C643 and HTH74). (biomedcentral.com)
  • All cellular models displayed genomic aberrations of varying complexity, and recurrent gains at 5p, 5q, 8q, and 20q (6/7 cell lines) and losses at 8p, 13q, 18q, and Xp (4/7 cell lines) were seen. (biomedcentral.com)
  • 7. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. (nih.gov)
  • 12. Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. (nih.gov)
  • 18. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. (nih.gov)
  • A case-control analysis of lymphocytic chromosome 9 aberrations in lung cancer. (nih.gov)
  • Methods for the analysis of human chromosome aberrations. (who.int)
  • However, in multivariate analysis only CK (HR = 2.47, P = 0.027) maintained independent significance, being associated with a dismal outcome regardless of chromosome 8 abnormalities. (scilifelab.se)
  • The most commonly affected chromosomes in hPSCs include 1, 8, 10, 12, 17, 18, 20, and X. Although steps can be taken to minimize the appearance of variants within an hPSC culture, current cytogenetic analysis methods cannot detect low levels of mosaicism within a culture. (stemcell.com)
  • Univariate analysis indicated a lower disease-free survival for patients with diffuse growing melanomas (p=0.01), melanomas that lost a copy of chromosome 3 (p=0.03), or invading the ciliary body (p=0.01). (eyehospital.nl)
  • Aberrant chromosomes with no ends, i.e., circular. (umassmed.edu)
  • Additionally, we believe many of the DNA segments targeted for elimination are important for germline chromosome structure and thus understanding how the cell specifically recognizes these sequences will contribute general knowledge of mechanisms ensuring chromosome stability that are essential to prevent aberrant rearrangements. (wustl.edu)
  • This substance arrests the chromosomes in the c-metaphase of mitosis and, at the same time, increases the contraction of chromosomes, rendering the centromeres and the fissure between the two chromatids visible ( Figure 2a) . (intechopen.com)
  • It is proposed that a loop-type configuration of sister chromatids took place and that the break-reunion occurred at cross sites of the loop to form an asymmetrical isodicentric chromosome during either mitosis or meiosis. (semanticscholar.org)
  • The dose response data used to convert aberration yield to equivalent whole-body dose are described. (ukhsa.gov.uk)
  • A dose-related increase in the number of aberrations was observed at all concentrations tested with and without metabolic activation. (europa.eu)
  • The data strongly indicate the existence of significant linear (α) and quadratic (β) components and are consistent with those published for the production of chromosome aberrations in comparable absorbed dose ranges. (genome-integrity.org)
  • These are the two sex chromosomes or gonosomes (X,Y) and the 44 non-sex chromosomes or autosomes, respectively. (intechopen.com)
  • The origin of the abnormal chromosome was verified by FISH with a painting probe from chromosome 18. (semanticscholar.org)
  • We report 34 newly diagnosed patients with NHL who had an abnormal chromosome 6 on initial biopsy. (nebraska.edu)
  • Chromosome aberrations and radiation-induced cell death. (wikidata.org)
  • To help assess human health risks from such exposures, a better understanding of the frequency and types of chromosome aberration initially-induced in human lung cell types is required to link initial DNA damage and rearrangements with transmission potential and, to assess how this varies with radiation quality. (ox.ac.uk)
  • 2. Cytogenetic and molecular delineation of a region of chromosome 3q commonly gained in marginal zone B-cell lymphoma. (nih.gov)
  • 9. Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. (nih.gov)
  • The 82nd Cold Spring Harbor Symposium focused on Chromosome Segregation & Structure and addressed the enormous progress in our understanding of the nature and behavior of chromosomes during the life cycle of the cell. (cshlpress.com)
  • If DNA were not coiled within chromosomes, the total DNA in a typical eukaryotic cell would extend thousands of times the length of the cell nucleus. (encyclopedia.com)
  • In a diploid cell, males have both an X and a Y chromosome , while females have two X chromosomes. (encyclopedia.com)
  • Chromosomes can be visualized using a microscope just prior to cell division, when the DNA within the nucleus uncoils as it replicates. (encyclopedia.com)
  • Comparison of RBE values of high-LET α-particles for the induction of DNA-DSBs, chromosome aberrations and cell reproductive death. (wjgnet.com)
  • Chromosome dosimetry has become established in radiological protection as a useful technique to supplement physical methods in the event of a suspected or confirmed accidental overexposure to external ionising radiation. (ukhsa.gov.uk)
  • Ring Chromosomes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • Rearrangements of chromosome 3q26.2 have a significant negative impact on patients with chronic myeloid leukaemia, suggests research published in Blood . (news-medical.net)
  • After adjustment by age, gender, ethnicity, family size, and pack-years, there was a 16.63-fold significantly elevated odds ratio (OR) for lung cancer associated with chromosome 9 aberrations. (nih.gov)