Chromosomes: 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)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: 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.X Chromosome: 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: 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)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: 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.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: 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.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosome Disorders: 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)Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosomes, Artificial, Bacterial: 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.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosome Painting: 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.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: 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.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Yeast: 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.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: 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.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Chromosome Inversion: 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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.Molecular Sequence Data: 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.X Chromosome Inactivation: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Centromere: 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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Meiosis: 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.Hybrid Cells: 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.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Aneuploidy: 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).Metaphase: 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.Mitosis: 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.Recombination, Genetic: 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.Mutation: 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.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Crosses, Genetic: 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.Pedigree: 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.Microsatellite Repeats: 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).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Cloning, Molecular: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Y Chromosome: The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.Nondisjunction, Genetic: 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.Chromosomes, Artificial, Human: 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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Receptors, Purinergic P2Y1: A subclass of purinergic P2Y receptors that have a preference for ATP and ADP. The activated P2Y1 receptor signals through the G-PROTEIN-coupled activation of PHOSPHOLIPASE C and mobilization of intracellular CALCIUM.Nucleic Acid Hybridization: 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)DNA: 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).Telomere: 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.Chromosome Walking: 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.Chromosomal Proteins, Non-Histone: 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.Blotting, Southern: 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Models, Genetic: 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.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Amino Acid Sequence: 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.Spindle Apparatus: 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.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.DNA Probes: 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.Polymerase Chain Reaction: 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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Chromatids: 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)Mosaicism: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Abnormalities, MultiplePolytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Gene Deletion: 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.DNA Replication: The process by which a DNA molecule is duplicated.DNA-Binding Proteins: 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.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.Interphase: 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).Genetic Variation: Genotypic differences observed among individuals in a population.Cell Cycle Proteins: 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.Gene Dosage: 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.Loss of Heterozygosity: 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.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Genome, Human: 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.Cytogenetic Analysis: 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.Cytogenetics: 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.Karyotype: 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)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Chromosome Fragile Sites: Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)Sequence Tagged Sites: Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Philadelphia Chromosome: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Homozygote: An individual in which both alleles at a given locus are identical.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Ploidies: The degree of replication of the chromosome set in the karyotype.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Gene Amplification: 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.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Genes, Bacterial: The functional hereditary units of BACTERIA.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)DNA, Neoplasm: DNA present in neoplastic tissue.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Syndrome: A characteristic symptom complex.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.Sister Chromatid Exchange: 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.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Aurora Kinases: A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Genes, Insect: The functional hereditary units of INSECTS.Sex Chromosome Disorders of Sex Development: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.Meiotic Prophase I: The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)

A case of ring chromosome. (1/236)

A girl with a G22 ring chromosome is described. There are few physical abnormalities, performance quotient is in the low normal range but verbal skills are much retarded.  (+info)

Interacting populations affecting proliferation of leukemic cells in culture. (2/236)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells.  (+info)

De novo appearance of the ph-1 chromosome in a previously monosomic bone marrow (45,XX,-6): conversion of a myeloproliferative disorder to acute myelogenous leukemia. (3/236)

Bone marrow examination of a patient with a myeloproliferative disorder revealed monosomy for chromosome No. 6 (45,XX,-6). Two months later, during blastic crisis, reinvestigation of the bone marrow showed the presence of the Ph-1 chromosome in the previously aneuploid cell line (45,XX,-6,-22,+Ph-1). This case differs from those previously published in that the Ph-1 chromosome appeared de novo during the development of frank acute myelogenous leukemia.  (+info)

Removal of abnormal clone of leukaemic cells by splenectomy. (4/236)

A patient with chronic myelocytic leukaemia positive for the Philadelphia (Ph-1) chromosome underwent splenectomy in the "terminal phase" of his disease. Chromosomal analysis of a marrow aspirate obtained during the operation showed nothing abnormal. Material from the spleen, however, showed the absence of a C chromosome and the presence of a "marker" chromosome in all metaphases examined. The patient did well for almost three years after splenectomy, and serial cytogenetic studies of marrow specimens showed the Ph-1 chromosome to be the only significant abnormality. Six months before death from recurrent blastic transformation aneuploidy was found in a marrow specimen. Subsequently additional abnormalities, including cells with two Ph-1 chromosomes, were detected. The karyotypic abnormalities found in the splenic specimen, however, never recurred.  (+info)

Antibody responses to leukemia-associated antigens during immunotherapy of chronic myelocytic leukemia. (5/236)

We have studied immunologic reactivity to leukemia-associated antigens in patients with chronic myelocytic leukemia (CML) treated with chemotherapy and adjunctive immunotherapy. All patients were immunologically competent as measured by skin test reactivity to dinitrochlorobenzene. Immunotherapy consisted of allogeneic irradiated leukemic myeloblasts injected intradermally, with BCG vaccine (Research Foundation, Chicago, Ill.) given by multiple puncture at the same site. 10(9) cells plus BCG were given weekly for 4 wk, and 10(8) cells plus BCG were given at monthly intervals thereafter. Eight patients judged clinically to be in the stable phase of their disease developed circulating antibody against the immunizing blast cells demonstrable by cytotoxicity and immunofluorescence assays. The antibody also showed reactivity against a panel of myeloblasts (12 paients) but not against the corresponding remission lymphocytes (five patients) or normal lymphocytes (20 donors). In two cases the antibody showed reactivity against the patient's own leukemic blasts. Seven of these eight patients have maintained a steady clinical course ranging from 20 to 40 mo, while one entered the blastic phase and died. Six patients were judged to be in the aggressive phase of CML because of progressive leukocytosis and splenomegaly or increasing myeloblastosis; five died an average of 16 mo after diagnosis. Humoral antibodies were not detected in these patients after repeated courses of BCG and allogeneic leukemic cells. We conclude that specific active immunotherapy of patients with CML can abet the production of humoral antibody against blast cell antigens and that this response may be impaired during the aggressive phase of the disease.  (+info)

Chronic myelogenous leukemia presenting in the blastic phase and its association with a 45 XO Ph1 karyotype. (6/236)

A 58-yr-old male patient presented in the blastic phase of chronic myelogenous leukemia (CML). Cytogenetic studies revealed a 45 XO Ph1 chromosome pattern in bone marrow cells during a short remission and again in the blastic phase of the disease. The patient expired 8 mo following diagnosis. The blastic phase of CML can stimulate acute myelogenous leukemia (AML) clinically and hematologically; CML can be differentiated by the presence of the Ph1 chromosome and the stigmata of CML. Absence of the Y chromosome from the bone marrow in CML is a recently described finding. Previous reports indicating the prevention of the blastic phase in patients with this karyotype could not be confirmed by our or other recently reported cases.  (+info)

Discordant patterns of chromosome changes and myeloblast proliferation during the terminal phase of chronic myeloid leukemia. (7/236)

A patient with Ph1 positive chronic myeloid leukemia (CML) developed blastic transformation which by morphologic criteria appeared to be localized to the lymphatic system. Chromosome analysis at this time, however, revealed new chromosomal abnormalities in addition to the existing Ph1 in all tissues studied (lymph node, blood, and bone marrow) consisting primarily of extra chromosome numbers 19 and 9 and a second Ph1. Therapy resulted in clinical remission with significant decrease in the aneuploid cell lines. However, these reappeared with recurrence of the blast crisis. Colony formation in semisolid culture of blood and marrow cells at the time of initial blast crisis yielded growth patterns characteristic of CML. On recurrence of the blast crisis after therapy, growth patterns were characteristic of CML in blast crisis or acute myeloblastic leukemia even though blood and marrow still showed relatively low levels of myeloblasts and promyelocytes. Possible explanations are discussed for the disparity in distribution between morphologic and chromosomal abnormalities in this patient.  (+info)

Prognostic value of chromosomal findings in Ph1-positive chronic myelocytic leukemia. (8/236)

Chromosome examinations were performed on bone marrows from 88 patients with Ph1-positive chronic myelocytic leukemia (CML). As a group, Ph1-positive CML patients with some cytogenetically normal cells in the marrow survived much longer than those whithout such cells in their marrow. The survival for patients whose first bone marrow exhibited only metaphases with a Ph1 and other karyotypic abnormalities was significantly shorter than that for patients whose marrow exhibited only metaphases with a Ph1 and an otherwise normal karyotype or patients whose marrow contained both categories of cells. The shorter the interval between the diagnosis of CML and the first chromosome examination, the greater the frequency of karyotypically normal cells in the bone marrow. Karyotypic progression in CML was a common phenomenon, whereas a reversion was very rare. On the basis of the findings obtained, the early diagnosis and treatment of CML are indicated, both possibly being helped by the chromosomal findings in the marrow. Furthermore, a combination of the chromosomal data and the marrow cell differential may serve as an important prognostic index in CML.  (+info)

*Isochore (genetics)

Häring and Kypr; Kypr, J (2001). "No Isochores in the Human Chromosomes 21 and 22?". Biochemical and Biophysical Research ... 2006). "An isochore map of human chromosomes". Genome Research. 16 (4): 536-541. doi:10.1101/gr.4910606. PMC 1457033 . PMID ... 1985). The human genome, for example, was described as a mosaic of alternating low and high GC content isochores belonging to ... A comprehensive study of the human genome unraveled a genomic organization where two-thirds of the genome is a mixture of many ...

*CpG site

Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... Takai D, Jones PA (2002). "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6 ... About 70% of human promoters have a high CpG content. Given the frequency of GC two-nucleotide sequences, the number of CpG ... For example, in the human genome, which has a 42% GC content, a pair of nucleotides consisting of cytosine followed by guanine ...

*Tiling array

"Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22". Genome Research. 14 (3): ... "Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of ... Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology ... Earlier studies on chromosome 21 and 22 showed the power of tiling arrays for identifying transcription units. The authors used ...

*SRG1 RNA

February 2004). "Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread ...

*Computational epigenetics

The Krembil Family Epigenetics Laboratory Contains DNA methylation data of human chromosomes 21, 22, male germ cells and DNA ... MethyLogiX DNA methylation database Contains DNA methylation data of human chromosomes 21 and 22, male germ cells and late- ... Zheng, Hao; Shi-Wen Jiang; Hongwei Wu (2011). "Enhancement on the Predictive Power of the Prediction Model for Human Genomic ... MethPrimerDB Contains 259 primer sets from human, mouse and rat for DNA methylation analysis. The Histone Database Contains 254 ...

*DNA

For instance, the DNA in the largest human chromosome, chromosome number 1, consists of approximately 220 million base pairs ... DNA usually occurs as linear chromosomes in eukaryotes, and circular chromosomes in prokaryotes. The set of chromosomes in a ... A DNA helix usually does not interact with other segments of DNA, and in human cells, the different chromosomes even occupy ... Wright WE, Tesmer VM, Huffman KE, Levene SD, Shay JW (November 1997). "Normal human chromosomes have long G-rich telomeric ...

*Pseudogene

"Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22". Genome ... Recently 140 human pseudogenes have been shown to be translated. However, the function, if any, of the protein products is ... A human processed pseudogene of phosphoglycerate mutase was initially reported by interpretation of both in silico and ... Human populations, for example, have distinct sets of processed pseudogenes across its individuals. Non-processed (or ...

*Silver stain

Human chromosomes 13, 14, 15, 21, and 22 have NORs, which increase the silver stain activity by at least 50 times.[citation ... C. R. Merril, R. C. Switzer, M. L. Van Keuren: Trace polypeptides in cellular extracts and human body fluids detected by two- ...

*Centromere

"Chromosomes, Chromosome Anomalies". *Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. ... A chromosome is metacentric if its two arms are roughly equal in length. In a normal human karyotype, five chromosomes are ... Dicentric chromosome) will result in chromosome breakage during mitosis. In some unusual cases human neocentromeres have been ... the fusion of two acrocentric chromosomes to form one metacentric chromosome. If arms' lengths are unequal, the chromosome is ...

*Ribosomal DNA

In the human genome there are 5 chromosomes with nucleolus organizer regions: the acrocentric chromosomes 13, 14, 15, 21 and 22 ... Conserved sequences at coding regions of rDNA allow comparisons of remote species, even between yeast and human. Human 5.8S ... In the nucleus, the rDNA region of the chromosome is visualized as a nucleolus which forms expanded chromosomal loops with rDNA ... Between remote species as human and frog comparison of sequences at ITS tracts is not appropriate. ...

*Voltage sensitive phosphatase

... encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, ... "A human phospholipid phosphatase activated by a transmembrane control module". Journal of Lipid Research. 53 (11): 2266-74. doi ... "A human phospholipid phosphatase activated by a transmembrane control module". Journal of Lipid Research. 53 (11): 2266-74. doi ... Human Genetics. 109 (6): 569-575. doi:10.1007/s004390100607. ISSN 0340-6717. PMID 11810268. Walker SM, Downes CP, Leslie NR ( ...

*TPTE

2000). "Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21". Hum. ... encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, ... 2002). "The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE ... Antonarakis SE (1998). "10 years of Genomics, chromosome 21, and Down syndrome". Genomics. 51 (1): 1-16. doi:10.1006/geno. ...

*Bayesian tool for methylation analysis

DNA methylation profiling of human chromosomes 6, 20 and 22. Nature Genetics 38, 1378-85 (2006). Dodge, J.E., Ramsahoye, B.H., ... Each chromosome can take several days to process; therefore, if possible, run several in parallel. Summarize methylation states ... It is quite time consuming (it can take several days to analyse one chromosome). (Note: In one government lab, running Batman ... Human DNA methylomes at base resolution show widespread epigenomic differences. Nature 462, 315-22 (2009). Bird, A. DNA ...

*GABPA

"Assignment of the E4TF1-60 gene to human chromosome 21q21.2-q21.3". Gene. 166 (2): 337-8. doi:10.1016/0378-1119(95)00575-7. ... "Regional mapping of two subunits of transcription factor E4TF1 to human chromosome". Japanese Journal of Cancer Research. 86 (1 ... "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311-9. doi:10.1038/35012518. PMID 10830953. Galvagni F, Capo S, ... Chrast R, Chen H, Morris MA, Antonarakis SE (Jul 1995). "Mapping of the human transcription factor GABPA (E4TF1-60) gene to ...

*AFAP1

"Entrez Gene: AFAP1 actin filament associated protein 1". Human AFAP1 genome location and AFAP1 gene details page in the UCSC ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. doi:10.1038 ... 2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". ...

*RNR5

RNA, ribosomal 5, also known as RNR5, is a human gene. Genes for ribosomal RNA are clustered on the short arms of chromosomes ... 1985). "Variation among human 28S ribosomal RNA genes". Proc. Natl. Acad. Sci. U.S.A. 82 (22): 7666-70. doi:10.1073/pnas.82.22. ... "Human PubMed Reference:". "Entrez Gene: RNR5 RNA, ribosomal 5". Kern SE, Kinzler KW, Bruskin A, et al. (1991). "Identification ... The gene for RNR5 exists in multiple copies on chromosome 22. Each gene cluster contains 30-40 copies and encodes a 45S RNA ...

*Chromosome 21 (human)

Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 21". Genet Test. 1 (4): 301-6. ... The following is a partial list of genes on human chromosome 21. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 21. Because researchers use different approaches to ... Gardiner K, Davisson M (2000). "The sequence of human chromosome 21 and implications for research into Down syndrome". Genome ...

*C1orf21

2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ... "Entrez Gene: C1orf21 chromosome 1 open reading frame 21". Human C1orf21 genome location and C1orf21 gene details page in the ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...

*Comparative genomic hybridization

CGH does, however, allow for the exploration of all 46 human chromosomes in single test and the discovery of deletions and ... The authors painted a series of individual human chromosomes from a DNA library with two different fluorophores in different ... This method allows one to identify new recurrent chromosome changes such as microdeletions and duplications in human conditions ... 64'000 arrays, September 2014). NCBI's Cancer Chromosomes: Cancer Chromosome is an integral part of NCBI's Entrez system, which ...

*Piet Borst

... later also found in human telomeres. Introduction of PFG electrophoresis for the separation of chromosome-sized DNA molecules ... Reid G, Wielinga P, Zelcer N, Van der Heijden I, Kuil A, De Haas M, Wijnholds J, Borst P. The human multidrug resistance ... Bernards A, Michels PA, Lincke CR, Borst P. Growth of chromosome ends in multiplying trypanosomes. Nature. 1983;303:592-7. Van ... Van der Ploeg LH, Cornelissen AW, Barry JD, Borst P. Chromosomes of kinetoplastida. EMBO J. 1984;3:3109-15. Heymans HS, ...

*PLXNB2

"An expression-independent catalog of genes from human chromosome 22". Genome Res. 5 (3): 214-24. doi:10.1101/gr.5.3.214. PMID ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Artigiani S, Barberis ... "Human PubMed Reference:". "Mouse PubMed Reference:". Tamagnone L, Artigiani S, Chen H, He Z, Ming GI, Song H, Chedotal A, ... "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain ...

*SON (gene)

1994). "The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Ann. Hum. Genet. 58 (Pt 1): 25-34 ... 2002). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. ... 2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311-9. doi:10.1038/35012518. PMID 10830953. Wynn SL, ... and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16". Mamm Genome. 4 (6): 338-42. doi:10.1007/BF00357094. ...

*SLC35B2

2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane ... 2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". ...

*Haplogroup P (mtDNA)

In human mitochondrial genetics, Haplogroup P is a human mitochondrial DNA (mtDNA) haplogroup. Haplogroup P is a descendent of ... Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis. PNAS May 22, 2007 vol. 104 no. 21 8726- ... Human Mutation. 30 (2): E386-E394. doi:10.1002/humu.20921. PMID 18853457. Retrieved 2009-05-20. Friedlaender et al. 2005 April ... 8730 van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA ...

*TRIM63

2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ... Dai KS, Liew CC (Jun 2001). "A novel human striated muscle RING zinc finger protein, SMRZ, interacts with SMT3b via its RING ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2002). "Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities ...

*NFIX

"Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21- ... NFIX protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Apt D, Liu Y, Bernard HU (1994). "Cloning and functional analysis of spliced isoforms of human nuclear factor I-X: interference ... for the human transcription factor nuclear factor I by FISH". Genomics. 28 (1): 66-73. doi:10.1006/geno.1995.1107. PMID 7590749 ...
Chronic Myelocytic Leukemia (CML) - Epidemiology Forecast to 2025 Size and Share Published in 2017-09-20 Available for US$ 2750 at Researchmoz.us
Learn more about Chronic Myelocytic Leukemia at TriStar Southern Hills DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
CML progresses gradually. It is often slow growing for many years. Eventually, it may transform itself into acute myelogenous leukemia (AML). This is a more aggressive type of leukemia. It progresses much more rapidly and is more serious.. Cancer occurs when cells in the body become abnormal. They divide without control or order. Leukemia is cancer of the white blood cells and their parent cells. Leukemia cells do not function normally. They cannot do what normal blood cells do. In this case they can not fight infections. This means that the person is more likely to become infected with viruses or bacteria. The cancerous cells also overgrow the bone marrow. This forces other normal components, like platelets out. Platelets are needed to help the blood clot. As a results people with leukemia may bleed more easily.. ...
Chronic myeloid leukemia is the tumour that occurs in blood cells and bone marrow, which is the soft parts inside bones where blood cells are produced.
SUMMARY. A patient with chronic granulocytic leukemia who was suspected of having a lymphoma of the spleen with subsequent leukemic extension to the peripheral blood, bone marrow, and central nervous system is presented. This case is compared with others previously reported in the literature, and the pathogenesis of concomitant myeloproliferative and lymphoproliferative disorders is discussed. ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
Most patients will develop mild to moderate adverse events or side effects early in tyrosine kinase inhibitor therapy, and most will resolve spontaneously or can be well-controlled.. Adverse events and side effects can be divided into four grades based on severity. Grade 1 would require no change in tyrosine kinase inhibitor therapy, however, may require specific treatment. Grade 2 would involve withholding therapy until severity decreases, or continuing therapy with treatment if symptoms decrease in severity with monitoring. If a Grade 2 side effect is recurrent, therapy dose reduction should be considered. Grade 3 should involve withholding therapy until severity decreases and then restarting at a lower dose or withholding till symptoms reach a grade 1 level or less and resume prior dosage. If there is no resolution or Grade 3 side effects are recurrent, the tyrosine kinase inhibitor should be changed. Grade 4 events should involve switching tyrosine kinase inhibitor therapy when ...
Pregnancy has been reported in patients with hematological malignancies, such as acute leukemia, Hodgkin and malignant lymphoma and chronic myelocytic leukemia. Only 12 cases of pregnancy occurring in patients with multiple myeloma (MM) have been rep
Brand Names Hydria®, Droxia (There may be other brand names for this medication) How is it Administered? Hydroxyurea is taken by mouth (as a capsule). What is it Used For? This drug is given to treat several kinds of cancer including melanoma, squamous cell carcinoma of head or neck, chronic myelocytic leukemia (CML), and recurrent, metastatic, or inoperable ovarian cancer. How Does it Work?
I continue to find reasons to be hopeful that one day, though probably not within my lifetime, medical researchers will overcome the challenges that thwart efforts to cure or at least contain most cancers, especially the more common ones. |p| My guarded optimism stems from the progress made in devising treatments for several less well-known malignancies. For many patients with cancers like chronic lymphoma, chronic myelocytic leukemia and now multiple myeloma, longevity lies in the ability of science to remain one step ahead of the malignancy by unraveling its genetic and molecular underpinnings and producing treatments tailored to counter them. |p|
Generic Droxia is used for treating skin cancer, cancer of the ovary or chronic myelocytic leukemia that is recurrent, has spread or cannot be helped with surgery. It may also be used with radiation to control skin cancers of the head and neck.. Generic Droxia (Hydroxyurea 500 Mg) # Trackable Fast Delivery @ Online shop. Online shopping like never before! Get the latest trends ruling the charts in WorldWide. With the most greatest range of pharmacy!
Product name: Droxia. Active ingredient: Hydroxyurea. Description: Generic Droxia is used for treating skin cancer, cancer of the ovary or chronic myelocytic leukemia that is recurrent, has spread or cannot be helped with surgery. It may also be used with radiation to control skin cancers of the head and neck.. Similar Titles: Hydrea. Manufacturer: Baramhaj Chemicals. Place an order: Click here. Payment method: Visa / MasterCard / Western Union. Delivery Time: 5-7 business days by Courier Service or 10-21 business days by Standard International Airmail. Loyalty Program: USPS - Fast Delivery Shipping 1-4 day USA Best quality drugs Fast Shipping USA Professional packaging 100% guarantee on delivery Best prices in the market Discounts for returning customers FDA approved productas 35000+ satisfied customers. ...
An extra chromosome also called trisomy can cause a wide range of developmental disorders. Learn about trisomy conditions in babies.
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Basophils possess membrane bound IgE molecules, and immunological activation leads to a secretory process with cell degranulation and histamine release. Heterologous anti IgE, concanavaline A, and phytohaemagglutinin are potent non-cytotoxic releasing agents. They operate by a mechanism similar to that of immunological activation. Heavy water is not a histamine releasing inducer but it increases histamine release of the cells. We studied the histamine release reaction of leukaemic basophils in 10 patients and found a physiological response such as that previously reported with normal human basophils.. ...
If you have a beautiful new baby in your family diagnosed with Down syndrome, you may have questions and concerns about to find the best possible support and encouragement available for a wonderful quality of life, richness of experience, and opportunities to reach his or her full potential. - Welcoming Babies with Down Syndrome - Children with Special Needs at BellaOnline
Objective:To study the effects of lentivirus mediated bcr/abl RNAi on the viability of K562cell line and prepare for the further study and clinic treatment.Met
All children need to express themselves. There is no difference in a child who stutters/stammers and a child who does not. We should be good listeners and allow all children to learn to express their thoughts.
It was time for a routine 5 month ultra sound it was in January 2009 and we decided to take our 3 year old to meet his new sibling. It was an experience! He stole the show with his comments and enthusiasm he had everyone in the room laughing. We did not want to know the sex of the baby we loved the surprise. At the end the doctor lightly mentioned that she did not see a stomach bubble and would like to do another ultra sound in a month. Both my husband and I did not think much about this. I mentioned this to friends and they reassured me that if she is looking in a month it must be nothing to worry about. I did no research during this time which is unlike me but I just did not think it was a big deal. The ultra sound day came February 17, 2009 I told my husband not to come that it was nothing and that there was no worries besides I was feeling the baby move and it was very reassuring. In the waiting room I remember getting really excited that they had a 3-D ultra sound machine I really wanted ...
Apo-Imatinib: Imatinib belongs to a family of medications called protein tyrosine kinase inhibitors. It is used to treat adults and children who have been newly diagnosed with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase. It works by affecting enzymes that play a role in certain cancer cells.
Trade Name: Cytosar-U®. For which conditions is this drug approved? Cytarabine is FDA approved in combination with other anticancer drugs for the treatment of acute myelogenous leukemia, acute lymphocytic leukemia, and the blast phase of chronic myelocytic leukemia. It is also indicated for intrathecal administration in the prevention and treatment of meningeal leukemia. It is important for patients to remember that physicians have the ability to prescribe medication for conditions other than those for which the drug has been approved by the FDA. Patients who have received a prescription of this drug for a condition other than which it is approved may wish to discuss this issue with their physician.. What is the mechanism of action? Cytarabine belongs to a group of drugs called antimetabolites. Cytarabine produces its anti-cancer effects by inhibiting the ability of a cell to produce DNA or repair DNA. By inhibiting the production and repair of DNA, cytarabine suppresses the ability of a cell ...
A new study in Clinical Epidemiology and Global Health features the Glivec®Patient Assistance Program (GIPAP) and reveals that "chronic myelocytic leukemia (CML) is diagnosed at an earlier age in poorer populations than in more affluent populations." The study focused on Indias CML population to investigate other possible contributors to early age at onset. The team of authors include our very own South Asia Region Head Viji Venkatesh, and Max CEO Pat Garcia-Gonzalez, as well as Paul H. Levine, Kunal Ajmera, Brenna ONeill, Heather J. Hoffman. The study is only available to the public for a limited time so if you know a physician.... Read More ...
Video presentation: Down Syndrome - A Picture is Worth a Thousand Words. Rosa Rocha discusses day-to-day challenges, realities, and rewards of raising a Down Syndrome child, as well as sources of information and support.
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And the answer Ive come up with is that I believed everything to be perfect and fine because it was. The initial shock of her diagnosis immediately after birth shook that belief hard. I thought that I was so wrong to have naively believed everything was perfect. But now I know the truth: that I knew her already even in those early months inside, when the secret of her extra chromosome was still hidden, and that I innately knew that she was and is perfect just as she is. And as nice as it is to re-discover this truth about Cora, its also nice to discover that I knew it all along ...
Play online games for down syndrome children games for free on PlayAllFreeOnlineGames.com, the largest source of free Games For Down Syndrome Children games, girl games. Play free games for Boys, Girls & Kids
My son has been a fan of baseball since he was a toddler. Many other children and teens with Down syndrome love the game, just like their mainstream peers. - Baseball Stories - Down Syndrome - Children with Special Needs at BellaOnline
Also known as: Acute myelocytic leukemia / Acute myeloid leukemia / Leukemia, Myeloid, Acute / Acute myelocytic leukaemia / Acute myeloblastic leukemia with failed remission / Leukaemia myeloblastic acute / AML / Non-lymphoblastic leukaemia acute / Non-lymphoblastic leukemia acute / Acute myeloid leukemia NOS / Myeloid leukaemia, acute / Leukaemias acute myeloid / Acute myeloblastic leukemia / Acute myeloblastic leukaemia / Leukemia myeloblastic acute / Acute granulocytic leukaemia / Acute granulocytic leukemia / Acute myeloid leukaemia / Myeloid leukemia, acute / Acute myeloid leukaemia NOS ...
The discovery of the Philadelphia chromosome as a hallmark of chronic myelogenous leukemia in 1960 by Peter Nowell provided evidence for a genetic link to cancer. As with most seminal scientific observations, the description of the Philadelphia chromosome posed many more questions than were answered. This Review series includes contributions from individuals who performed critical experiments addressing some of the most important of these questions, reflecting the nearly 50 years of work inspired by Nowells initial finding. The legacy of the Philadelphia chromosome now serves as a paradigm for how basic science discoveries can lead to effective new approaches for the treatment of human disease.
Hi! My name is Qadoshyah and Im the oldest of 11 kids. I live on a ranch in the beautiful country of Northeastern Oklahoma with my family. We are a large household with so many kids that we have various projects going on: We raise goats, pigs, sheep, and rabbits (I raise the rabbits - cute little mini lops) on our 44 acre ranch. Our ranch is also home to bullmastiffs, chickens, guinea hens, ducks, llamas, a donkey, a bottle calf, and several ranch dogs and livestock guardian dogs. The youngest two kids are boy/girl twins born in Feb. 05. The boy happens to have Down syndrome. He is such a blessing to our family :)! Our whole family is also gluten-free, which adds another interesting aspect to our large, active family. We also cook dairy-free & corn-free due to allergies a few kids have. Some of the family is also on the GAPS diet to restore gut health ...
Indirubin Function 1) anti cancer,anti tumor 2) mainly used for treating chronic granulocytic leukemia 3) used for treating abnormal myeloproliferative and eosinophil increased Application lndirubin is used in anti cancer and chronic .....
The Constitutional Court will hear an application on Thursday for leave to appeal a Western Cape High Court ruling against a damages claim by the mother of a Down syndrome child.
Why, then, does Singer argue that infants born with this condition can justly be killed? Because they are "abnormal" and do not have "good prospects" (Rethinking p. 214). This notion of "prospects" runs like a mantra through Singers discussion of Down syndrome children: "the future prospects of life may be so bleak" (211), "the prospects are clouded" (213), and so forth. But what sort of prospects does he have in mind? On p. 213 of Rethinking he lists several activities which a person with Down syndrome will supposedly never be capable of: "to play the guitar, to develop an appreciation of science fiction, to learn a foreign language, to chat with us about the latest Woody Allen movie, or to be a respectable athlete, basketballer or tennis player." This list reads like a parody of bourgeois myths of achievement, success, and respectability. To Singer, however, these are legitimate reasons for killing a newborn. After all, if you cant do your own financial planning, why should you be allowed to ...
Questions and some answers from the Jérôme Lejeune Foundation on the best reflexes to have on health issues with a Down syndrome child.
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
At first I thought that maybe she didnt see me smile and I figured that once she sat down and glanced over shed start a conversation. As I was thinking this I also realised that I was facebook friends with this woman!!!! Seriously, when I first had Stella my home based development worker gave my name to all of the families who had a child with Down Syndrome, and this woman "friended" me. She even sent me a message! So I thought for sure once we were siting there, across from one another that she would say something to me. I had already attempted contact and honestly I just felt so deflated that I could not muster up the nerve to put myself out there again ...
Generic Hydrea (Hydroxyurea) is often used to treat cases of chronic ovarian cancer, myelocytic leukemia, melanoma and squamous cell cancer in the head and neck. Generic Hydrea may also be used to... From: ADD TO CART ...
TY - JOUR. T1 - Methotrexate and Cyclosporine Compared with Cyclosporine Alone for Prophylaxis of Acute Graft versus Host Disease after Marrow Transplantation for Leukemia. AU - Storb, Rainer. AU - Deeg, H. Joachim. AU - Whitehead, John. AU - Appelbaum, Frederick. AU - Beatty, Patrick. AU - Bensinger, William. AU - Buckner, C. Dean. AU - Clift, Reginald. AU - Doney, Kristine. AU - Farewell, Vernon. AU - Hansen, John. AU - Hill, Roger. AU - Lum, Lawrence. AU - Martin, Paul. AU - Mcguffin, Robert. AU - Sanders, Jean. AU - Stewart, Patricia. AU - Sullivan, Keith. AU - Witherspoon, Robert. AU - Yee, Gary. AU - Thomas, E. Donnall. PY - 1986/3/20. Y1 - 1986/3/20. N2 - We treated 93 patients who had acute non-lymphoblastic leukemia in the first remission or chronic myelocytic leukemia in the chronic phase (median age, 30 years) with high-dose cyclophosphamide and fractionated total-body irradiation, followed by infusion of marrow from an HLA-identical sibling. To evaluate post-grafting prophylaxis for ...
Usually each egg and sperm cell contains 23 chromosomes (half the normal number). The union of these cells creates 23 matched pairs, or 46 total chromosomes at the time of fertilization. In this manner, a person receives exactly half of their genetic material from each biological parent. Sometimes, an error occurs when an egg or sperm cell is forming, causing it to have an extra chromosome #18 or #13 inside. If this cell contributes that extra chromosome 18 to the embryo, then trisomy 18 results. If this cell contributes that extra chromosome 13 to the embryo, then trisomy 13 results. The extra chromosome 18 or 13 can come from either the mothers egg cell or the fathers sperm cell. The features of trisomy 18 and trisomy 13 result from having this extra copy of chromosome 18 or 13 in each of the bodys cells.. Occasionally, the extra chromosome 18 or 13 is attached to another chromosome in the egg or sperm; this is called a translocation. This is the only form of trisomy 18 or 13 that can be ...
(title:Down syndrome AND body:Down syndrome) OR title:Down syndrome, chromosome, down syndrome symptoms, down syndrome causes, 21st chromosome, down syndrome children
Sarah Palin Im grateful for those with a heart of love for those who have that extra chromosome; we refer to it as "an extra chromosome of love!" And adding to Bristols collection of pictures on her blog during Down Syndrome Awareness Month, heres one of our boys. ...
Down syndrome is a chromosomal disorder that often results in a child experiencing both physical and mental challenges. Down syndrome children require a great deal of emotional, social, and academic support as they reach the school-age years. Teaching children with Down syndrome is not always easy, though educators can follow some basic guidelines that help to make the process rewarding and successful. Examples of Down syndrome teaching tips include how to provide reading and math support, how to practice inclusion in the regular classroom, and how to implement support strategies for students with the condition.
Most of us are born with 23 pairs of chromosomes, for a total of 46. These chromosomes include DNA and other genetic building blocks. Some people, however, are born with a trisomy condition, that is, an extra chromosome. Trisomy can lead to a variety of problems, including physical and intellectual and developmental disabilities. March is…
Dr. Ferguson responded: No. With any trisomy every cell in the body has an extra chromosome in the nucleus. That extra chromosome interferes with the normal information that tells each metabolic function how to proceed. Those trisomys that are compatible with a rather normal life have less interference shown than others, but stem cells would never cancel or remove the extra chromosome.
Large collection of high quality biology pictures, photos, images, illustrations, diagrams and posters on marine biology, cell biology, microbiology... for educational purposes.. ...
People with Down syndrome have an extra chromosome that impacts how a person looks and their ability to think, learn, and reason. Find out the type, causes, and kinds of effects it can have.
Looking for information on Acute myelocytic leukemia? Medigest has all you need to know about Acute myelocytic leukemia - Symptoms and Signs, Causes, Treatments and definition
We report a 34 year old man who developed bilateral ptosis and predominantly respiratory, truncal and bulbar weakness, and a high titer of anti acetylcholine receptor antibodies along with a diagnosis of Philadelphia chromosome positive Chronic Myeloid Leukemia (CML). The temporal relationship suggests a possible association.. ...
Translated by Norman Yuan Most marrow donors consider donating bone marrow as simple as donating blood. But in Taiwan, where the concept of donating marrow has not yet been completely accepted, bone marrow donation is not only an act of courage, but also a virtue. Some people may doubt the percentage of successful bone marrow transplants; however, in the medical field today, a bone marrow transplant is still the only chance for blood cancer patients. When a physician suggested a marrow transplant for Lin Chia-jung, who was afflicted with chronic myelocytic leukemia, her parents were hesitant. After all, having a transplant was gambling with Chia-jungs life. A recent marrow transplant attempted in the same hospital ward had failed. However, after they read an American magazine article about marrow transplant, they suddenly realized that their daughter should not wait any longer. She was very lucky to have found someone with a matching human leukocyte antigen (HLA) type in the Tzu Chi Marrow ...
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APA Citation Wapner, Jessica. () The Philadelphia chromosome :a genetic mystery, a lethal cancer, and the improbable invention of a lifesaving treatment MLA Citation Wapner, Jessica. The Philadelphia Chromosome: A Genetic Mystery, A Lethal Cancer, And The Improbable Invention Of A Lifesaving Treatment. : . Print.. These citations may not conform precisely to your selected citation style. Please use this display as a guideline and modify as needed.. ...
Cytoxan belongs to the drugs for treatment of cancer with cytotoxic effect. Its active substance cyclophosphamide is converted in the liver by cytochrome P450 into two active substances acrolein and phosphoramide. They are the active compounds, and they slow the growth of cancer cells inhibiting their proliferation and metabolism. First of all this effect concerns cells of uncontrolled growing but also damages other cells of the body resulting in serious side effects. Cytoxan also can be referred to as immunosuppressive agent. Cytoxan is used to treat malignant lymphoma (lymphocytic and gistiotsitarnaya lymphoma, lymphogranulomatosis, Burkitt lymphoma, lymphoma, mixed type), multiple myeloma, leukemias (lymphocytic leukemia, granulocytic leukemia, myelocytic leukemia, acute lymphoblastic leukemia in children), neuroblastoma, ovarian adenocarcinoma, retinoblastoma, breast carcinoma ...
22q11.2 deletion is a chromosomal difference present in approximately one out of every 2,000 to 4,000 live births, and in 5-8 percent of children born with cleft palate.
Acute myeloid (myelogenous, myelocytic, myeloblastic) leukemia (AML) consists of a group of malignant disorders characterized by the replacement of normal bone marrow with abnormal, primitive hematopoietic cells. Although the cure rate has improved, treatments are associated with notable morbidity and mortality.
Another "con" to living here is the lack of resources locally for parents of children with Down Syndrome. There are very few children/babies here locally who have DS and therefore there is no local support centre for me to go and meet other parents like me. The closest city is almost two hours away and with three young children, going there is just not something I can do very often, if at all. This is what I find hardest about living here. I am the type of person that loves/needs to feel connected, to feel like I am not alone. If I still lived in Victoria, I would have had more of an opportunity to meet other families on the same journey as ours ...
The girls and I have a routine that we try to follow every weekday. We get up, Brinley gets her milk, we all hang out, Adele gets her bottle and Brinley has breakfast, then its nap time at around 11:00am for Brinley. I usually have their outfits picked out the night before, so we can get dressed and out the door. I didnt do that last night. I decided to put Brinley in her crib and pick out some clothes for the girls. I should have known better. When I went to leave Brinleys room, she went into the ugly cry. I picked her up, had some snuggles, and tried again. Nope. At that moment, I started to feel a bit overwhelmed. I dont know if it was because our schedule was thrown off or that I knew that Brinley would not get a nap today since we had Music Therapy in the afternoon? I brought her into our room, Adele was already napping and Brinley sat on the bed and played Endless Alphabet while I showered. Then I had a thought, I dont follow the nap rules.....I dont put Brinley down at 1:00pm ...
Abstract. We performed a subpopulation analysis in acute myelocytic leukemia (AML) with the objective of relating the phenotypic diversity to the clonogenic pr
I know my daughter is stunning, the most beautiful person I have ever seen my entire life, although my husband is a close runner-up. Early on, we knew that for a baby with an extra chromosome, Ellen was physically and cognitively in amazing shape, something that for a while baffled us but for which we…
May will be here soon. It is one of my favorite months for two major reasons: my daughters birthday and the French Open. The two are related. When Ellen came into this world with an extra chromosome and I was trying to figure out as rapidly as I could what that meant for her and…
Compare Rates of Patients' Depressive Symptoms (as per HADS), and Major Depressive Syndrome (as per PHQ-9) at Baseline, Week-2, Months 1, 3, and 6, and Longitudinally Between the Two ...
San Francisco Business Times subscription required.) Xoma Corp.s latest promise may be its last. The Berkeley biotech drug developer - long on expectations, but short on delivering its own drugs to market - over the past eight months has brought on new leadership and cut costs. Whats more, a year-old partnership is helping to turn a once-failed drug toward a wide array of other uses. But where that partner, Les Laboratoires Servier, has given Xoma a measure of stability since a high-profile diabetes drug failure last year, the collaboration also has fueled speculation that the French drug maker ultimately will buy Xoma. Those rumors have sent Xomas stock price soaring more than 170 percent from a 52-week low to about $2.85 per share. Excuse Xoma shareholders, however, if they get a queasy been-there/done-that vibe when it comes to Xomas plans ...
The FAB group has recently published guidelines for distinguishing chronic granulocytic leukaemia (CGL) from chronic myelomonocytic leukaemia (CMML) and atypical chronic myeloid leukaemia (aCML). Whereas CGL is generally recognized to be a distinct entity, there is debate as to whether CMML and aCML are separate disorders or part of a spectrum of myeloproliferative disorders with dysplastic features. Data are presented on 10 cases who developed features of a CML during the course of their disease but who presented with a normal or a low leucocyte count without a monocytosis and were diagnosed as refractory anaemia. This suggests that, at least in some cases, aCML represents an unusual evolution of MDS, and even though these patients have a uniformly poor prognosis it may be premature to regard aCML as a distinct clinical entity ...
Patients must have histologically documented or cytologically confirmed diagnosis of acute myelocytic leukemia refractory to standard induction treatment, or relapsed after standard therapy; acute lymphocytic leukemia refractory to induction treatment, or relapsed after effective therapy; chronic myelocytic leukemia refractory to imatinib therapy or second line tyrosine kinase inhibition, or relapsed after tyrosine kinase inhibition, in chronic, accelerated, or blastic phase; chronic lymphocytic leukemia refractory to standard therapy, or relapsed in second relapse; a myelodysplastic syndrome (including chronic myelomonocytic leukemia) refractory to azacitidine; and an int-2 or high myelodysplastic syndrome relapsed after a hypomethylating agent. Patients may not be eligible for, or must have declined, bone marrow transplantation or other chemotherapeutic regimens known to produce consistent remissions. Because hematopoietic criteria in leukemia and lymphoma are confounded by the nature of the ...
Acute Myelocytic Leukemia (AML, Acute Myeloblastic Leukemia) - Pipeline Review, H1 2017 Size and Share Published in 2017-06-30 Available for US$ 2500 at Researchmoz.us
D.A. Vorobiof, J. Benjamin, H. Kaplan and A. Dvilansky: Chronic Granulocytic Leukemia, Neutrophilic type, with paraproteinemia IgA type K. Acta Hemat. 60:316-320, 1978.. J. Benjamin, D. Ben-Gradus, M. Mostoslavski, J. Rapoport and C. Chaimovitz: Peritonitis in Continuos Ambulatory Peritoneal dialysis in Southern Israel. Israel Journal of Medical Sciences. 25: 699-702,1989.. ...
But what is a situation of concern for all women across the globe is particularly acute for women and girls with Down Syndrome, as well as parents of Down Syndrome children. And if there is one area in which there does not seem to be much of a variance between girls and boys it is with regard to what happens when parents receive a diagnosis of Down Syndrome. In many countries that diagnosis is sadly tantamount to a death sentence. Despite the assurances of the 2006 Convention on the Rights of Persons with Disabilities to "promote, protect and ensure the full and equal enjoyment of all human rights and fundamental freedoms by all persons with disabilities," including "those who have long-term physical, mental, intellectual or sensory impairments," and to "promote respect for their inherent dignity," there are really no social protections for those diagnosed in the womb with a third 21st chromosome. For children born with Down Syndrome, in many places access to public services - to education, ...
Acute myeloid leukemia is also called acute myelocytic leukemia, acute myelogenous leukemia, acute granulocytic leukemia, acute non-lymphocytic leukemia, or sometimes just AML. It is most common in older people.
Down syndrome (DS) is a main cause of human prenatal and postnatal morbidity and mortality, and a leading cause of birth defects and mental retardation. There is increasing evidence that maternal meiosis is an error prone process that is most sensitive to the effect of exogenous factors at the time of chromosomal segregation, which is around conception. In addition to environmental factors, various genetic factors have been described which seem to influence the nondisjunction rate during meiosis. The first data of DS in the Oman yielded a high prevalence among live births. The birth prevalence of Trisomy 21 in Oman with 1:454 newborns is, perhaps, the highest reported so far. We have performed a case control study based on a structured questionnaire, which covers socio demographics, family history and potential risk factors. We identified increased maternal age as one factor for the birth of a DS child. The sex ratio among Down Syndrome children showed a predominance of boys of 1.37:1 (m:f ) as ...
Pain management information for pain medicine healthcare professionals in treating and caring for their patients. Clinical Pain Advisor offers news, case studies and more.
My son is 15 weeks old and has recently been diagnosed with Alagille syndrome. Over the last couple of weeks he has started itching his eyes and face. Im not sure he can co-ordinate his hand to the...
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After I read Joshs statement, I was even more upset because I thought that he used Christ as an out. He used Christ as a means to excuse his behaviour and inexcusable choices. This bothered me. As I continued to read his statement, I wondered how his family could speak to the authorities but that nothing was done. Why did the Duggar family not contact the authorities right away? Why did the incidents continue before something was actively done about it? If five girls had been molested, seeking counselling was enough of a consequence? Today, are they thriving women, in healthy relationships, with no thoughts of their tumultuous past? Joshs actions were clearly illegal and those which will heavily impact the lives of the victims and their families for a lifetime. The family also stated in the police report that they all felt safe in their home with Josh. I can hear the Duggar parents educating their children on what they would say during their interrogation with the detectives. I could actually ...
I have read that Gleevec is used to treat a particular type of leukaemia, caused by the Philadelphia Chromosome. My leukaemia is not of that type, but...
In a case viagra generic prescription of chronic myelocytic leukemia and a case of acute myelocytic leukemia, some megakaryoblasts showed the same phenomenon. Past behavior had significant direct effects on attitudes toward the PDR. It is proposed that RNE can undergo three classes of tyrosine-based crosslinking. The clinical outcome of rheumatoid arthritis patients treated long term with sulphasalazine or parenteral gold was studied. Pedometer-determined physical activity among multiethnic low-income housing residents. Is Europe ready to embrace a policy of universal varicella vaccination?. The HFD upregulated the expression of Grp94, CHOP, caspase 12, p62, and LC3II, and increased the ratio of LC3II to LC3I in the left ventricle (LV) of MetS pigs. The effect of transureteroureterostomy upon conduction of peristaltic waves. The specificity of interaction between TSC2 and binding proteins of selected clones was confirmed by mating assay for 83 clones. In addition, virions lacking A21 were unable ...
Results Thirteen (72%) patients were male. The median age at diagnosis of GPA was 59 years (25-69) and the median duration from GPA diagnosis to first hematological malignancy was 7 years (3-15).. All patients had been treated with alkylating agents for GPA. 17 of the 18 patients had received cyclophosphamide, two of them had also been treated with chlorambucil. One had been treated with chlorambucil only.. The median duration of cyclophosphamide (intravenous and/or oral) was 58 months (range 6-104) and the median cumulative dose was 111 grams (range 20-233).. The malignancies were all myeloid and consisted of myelodysplastic syndrome (MDS) (n=9), AML (n=5), chronic myelocytic leukemia (n=2), myelofibrosis (n=1), and chronic myelomonocytic leukemia (n=1). AML developed in 8 of the patients with MDS and in the patient with myelofibrosis.. MDS was typically diagnosed after a period of cytopenia suspected to be associated with GPA treatment. The median time between diagnosis of MDS and AML was in ...
Nodes are palpated with the eagle s syndrome of technology the eagle s syndrome this syndrome may vary depending upon the eagle s syndrome of Cushings syndrome. To cure the eagle s syndrome of cortiol due to narrowing of the eagle s syndrome in cities south of Peoria, Illinois. The majority of deaths in case of some individuals. Regular health checkup is required in order to gain some understanding of the eagle s syndrome or more persons with Sown syndrome, while seven said they did not find any correlations between the eagle s syndrome, education, income, or religion of my subjects and Down Syndrome. It seems, then, that Down syndrome child? Unfortunately, most kids with DS are. Therefore, treatment focuses mostly on managing these medical conditions, as well as the eagle s syndrome next year being shuffled around from one of the eagle s syndrome to respond to stress. For this reason, women in last 3 months of pregnancy and the eagle s syndrome of Carpal Tunnel.. Archaeologists have found that ...
Blom, A.W. and Artz, Neil and Beswick, A.D. and Burston, A. and Dieppe, P. and Elvers, K.T. and Gooberman-Hill, R. and Horwood, J. and Jepson, P. and Johnson, E. and Lenguerrand, E. and Marques, E. and Noble, S. and Pyke, M. and Sackley, C. and Sands, G. and Sayers, A. and Wells, V. and Wylde, V. (2016) Improving Patients Experience and Outcome of Total Joint Replacement: the RESTORE Programme. Programme Grants for Applied Research, 4 (12). pp. 1-550. ISSN Print: 2050-4322 Online: 2050-4330 Bueno, Allain and Brand, A. and Neville, M.M. and Lehane, C. and Brierley, N. and Crawford, M.A. (2014) Erythrocyte Phospholipid Molecular Species and Fatty Acids of Down Syndrome Children Compared with Non-affected Siblings. British Journal of Nutrition, 113 (1). pp. 72-81. ISSN Print 0007-1145 Online 1475-2662 Bueno, Allain and Ghebremeskel, K. and Bakheit, K.H. and Elbashir, M.I. and Adam, I. (2012) Dimethyl Acetals, an Indirect Marker of the Endogenous Antioxidant Plasmalogen Level, are Reduced in Blood ...
There are three forms of DS - trisomy 21, translocation and mosaicism.. The most common of the three types of Down Syndrome is often referred to as Trisomy 21. About 95% of people with Down Syndrome have this. This type of Down Syndrome occurs because of an error in cell division. The error happens either before or at the time of conception. What happens is that a pair of the 21st chromosomes in either the egg or the sperm do not separate properly. This extra chromosome is then found in every cell in the body,thereby causing the characteristics of Down Syndrome.. Mosaicism occurs in about 1-2% of all people with Down Syndrome. In this type of Down Syndrome the error in separation of the 21st chromosome occurs in one of the first few cell divisions AFTER fertilization. This causes the fetus to have some cells with 46 chromosomes and some with 47. The cells with 47 chromosomes have one extra 21st chromosome. Because of the fact that not all cells contain the extra chromosome 21 the range of ...
Jillian K Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Ronen Schneider, Heon Yung Gee, J Magdalena Schmidt, Asaf Vivante, Amelie T van der Ven, Hadas Ityel, Jing Chen, Carolin E Sadowski, Stefan Kohl, Werner L Pabst, Makiko Nakayama, Michael J G Somers, Nancy M Rodig, Ghaleb Daouk, Michelle Baum, Deborah R Stein, Michael A Ferguson, Avram Z Traum, Neveen A Soliman, Jameela A Kari, Sherif El Desoky, Hanan Fathy, Martin Zenker, Sevcan A Bakkaloglu, Dominik Müller, Aytul Noyan, Fatih Ozaltin, Melissa A Cadnapaphornchai, Seema Hashmi, Jeffrey Hopcian, Jeffrey B Kopp, Nadine Benador, Detlef Bockenhauer, Radovan Bogdanovic, Nataša Stajić, Gil Chernin, Robert Ettenger, Henry Fehrenbach, Markus Kemper, Reyner Loza Munarriz, Ludmila Podracka, Rainer Büscher, Erkin Serdaroglu, Velibor Tasic, Shrikant Mane, Richard P Lifton, Daniela A Braun, Friedhelm ...
Almost daily, headlines announce newly discovered links between cancers and their genetic causes. Science journalist Jessica Wapner vividly relates the backstory behind those headlines, reconstructing the crucial breakthroughs, explaining the science behind them, and giving due to the dozens of researchers, doctors, and patients whose curiosity and determination restored the promise of a future to the more than 50,000 people diagnosed each year with chronic myeloid leukemia (CML). It is an astonishing tale that will provide victims of other cancers and their loved ones realistic hope that cures may yet be found in their lifetimes ...
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Mayor Nutter said Monday evening that there were no specific threats or threat incidents in Philadelphia. - $author, Philadelphia Daily News
Feeling utterly helpless and shattered, all I heard was a diagnosis of doom and all I felt was fear. Anger. Betrayal by the very God Who I prayed to for it not to be. Inconsolable and overwhelmed.. I have a confession - I still feel some of these at times- when the days drag long, the challenges loom large, and the future feels uncertain.. But most times, I am overwhelmed with gratitude instead - for being given for such a gift, to be entrusted with such a beautiful soul whose love knows no conditions and whose smile makes my heart nearly burst.. I dont know you, but like you, have been entrusted with one who is fearfully and wonderfully made, exquisite and unique.. I dont know you. But I know you will love your child with a fierceness you never thought possible. I know you will be a mighty momma who fights and you will be able to do this.. I dont know you, but we are connected, linked by an extra chromosome and placed on a path that only those who walk it understand. Dont rush, because the ...
Brian Patrick Smith MD is a Critical Care Specialist who practices in Philadelphia, PA. Get a full report about this doctors background by clicking here.
Named after physician John Langdon Down, Down Syndrome (DS) is a genetic disorder that is caused by an extra chromosome 21 that is present in all or some of the individuals cells. There are three types of chromosome abnormalities in Down syndrome. The first is called trisomy 21 and is the most common form of DS. With trisomy 21, the individual has an extra chromosome 21, which results in a total of 47 chromosomes in each cell rather than the typical 46. The second is called mosaicism and is the least common form of DS. In this case, only some of the cells contain 47 chromosomes, while the other cells contain an accurate 46. The third type is called translocation where the extra chromosome attaches (or translocates) to a different chromosome, such as 14 or 22.. The additional chromosome is almost always the result of faulty cell division, in either the egg or sperm, resulting in 3 chromosome 21s (2 from the egg and 1 from the sperm, or vice-versa). Though the extra chromosome could come from ...
One of the surprising Down syndrome facts is that Down syndrome can be classified as any one of three specific genetic conditions. Trisomy 21, Translocation Down syndrome, and Mosaic Down syndrome are the three major types of Down syndrome.. The majority of people with Down syndrome have standard Trisomy 21. This means they have three copies of chromosome 21, instead of the typical two copies. Ninety-five percent of all people with Down syndrome have this type of Down syndrome.. Translocation Down syndrome accounts for somewhere between 2-3% of cases. This type of Down syndrome is when an extra part of chromosome 21, or an entire extra chromosome 21, is attached to another chromosome. When a chromosome moves and attaches to another chromosome, this is called translocation.. Mosaic Down syndrome also affects around 2-3% of people who have Down syndrome. In these cases, there may be cells with only two copies of chromosome 21, while other cells have the three copies associated with Down ...
The data from Karl Herrups lab are extremely fascinating. One of the issues with cell cycle genes in AD is whether the expression of these genes is coordinated as in an orderly progression of the cell cycle or whether these genes are subverted to other uses. And, if they are expressions of a "true" cell cycle, how far does the cycle get in these non-dividing cells? I think that Karls work provides important insights into these issues. It is interesting to me that these extra chromosomes have not been reported previously. In fact, when people first became excited about a relationship between Downs and AD there were studies on extra chromosome 21 in AD that were negative. Incidentally, several years ago I collaborated on an epidemeological study of AD and cancer, with exactly the thought that Karl expressed. We used the extensive clinical data base at the Marshfield Clinic (Wisconsin) to look for an association between cancer and AD. At first pass the data suggested if you have one there is an ...
Clinical trials with laboratory correlates were conducted in patients with acute leukemia to determine if relationships exist between drug dose and growth of surviving leukemia cells. The therapeutic design was based on findings in the leukemic rat that relate the initial dose of drug and tumor kill to the magnitude of residual tumor proliferation and sensitivity to a second drug. Patients with acute myelocytic leukemia received cytarabine, either 2 or 6 g/m2/72 h by continuous infusion. The presence and magnitude of change between initial and residual tumor after treatment, as measured by change in labeling indices, depended on the "priming" dose of drug. The amount of perturbation correlated with clinical response to cytarabine given at the time of induced proliferation. With results which parallel the rat data, the direct relationship of initial drug dose and proliferation of residual tumor is demonstrated in humans, and lends support to the design of our clinical trials of timed sequential ...
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Down syndrome is usually described as a congenital defect caused by an extra chromosome, characterized by moderate to severe mental retardation and marked physical traits that are often easily identifiable in the person with the condition.
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Official site of the City of Philadelphia, includes information on municipal services, permits, licenses, records for citizens and businesses
Official site of the City of Philadelphia, includes information on municipal services, permits, licenses, records for citizens and businesses
Many questions concerning Citizens Bank Park and Phillies operations may be answered by referencing the Convenience Guide, our complete A-Z guide.. From the options below, select the choice that best describes the subject of your question:. ...
The chromosomal defect in the Philadelphia chromosome is a translocation, in which parts of two chromosomes, 9 and 22, swap places. The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11). This is a reciprocal translocation, creating an elongated chromosome 9 (termed a derivative chromosome, or der 9), and a truncated chromosome 22 (the Philadelphia chromosome, 22q-).[3][4] In agreement with the International System for Human Cytogenetic Nomenclature (ISCN), this chromosomal translocation is designated as t(9;22)(q34;q11). The symbol ABL is derived from Abelson, the name of a leukemia virus which carries a similar protein.. Translocation results in an oncogenic BCR-ABL gene fusion that can be found on the shorter derivative 22 chromosome. This gene encodes for a Bcr-abl fusion protein. Depending on the precise location of fusion, the molecular weight of this protein ...

Retargeting of microcell fusion towards recipient cell-oriented transfer of human artificial chromosome | BMC Biotechnology |...Retargeting of microcell fusion towards recipient cell-oriented transfer of human artificial chromosome | BMC Biotechnology |...

Human artificial chromosomeMeasles Virus fusogenic proteinChimeric protein. Background. Microcell-mediated chromosome transfer ... Human artificial chromosome (HAC) vector with a conditional centromere for correction of genetic deficiencies in human cells. ... Human artificial chromosome (HAC) vector provides long-term therapeutic transgene expression in normal human primary ... Localization of an hTERT repressor region on human chromosome 3p21.3 using chromosome engineering. Genome Integr. 2010;1(1):6. ...
more infohttps://bmcbiotechnol.biomedcentral.com/articles/10.1186/s12896-015-0142-z

After completion: the changing face of human chromosomes 21 and 22 | Genome Biology | Full TextAfter 'completion': the changing face of human chromosomes 21 and 22 | Genome Biology | Full Text

... human chromosome sequences the type of research being done on each has shifted subtly, reflecting the impact of genomic data on ... If the number of publications per chromosome is weighted by chromosome size (Figure 1b), chromosomes 21 and 22 (as well as ... Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21. Genomics. 2001, 74: ... Many more human genes are now covered by at least one of these valuable mRNA resources than when the chromosomes were first ...
more infohttps://genomebiology.biomedcentral.com/articles/10.1186/gb-2004-5-7-111

High-quality Sequence Of Human Chromosomes 21, 22 Achieved - E-DHigh-quality Sequence Of Human Chromosomes 21, 22 Achieved - E-D

High-quality Sequence Of Human Chromosomes 21, 22 Achieved. by denyfeb72 on March 18, 2019. in Education System ...
more infohttps://thatcoolblog.com/high-quality-sequence-of-human-chromosomes-21-22-achieved.html

Novel RNAs identified from a in-depth analysis of the transcriptome of human chromosomes 21 and 22  - CSHL Scientific Digital...Novel RNAs identified from a in-depth analysis of the transcriptome of human chromosomes 21 and 22 - CSHL Scientific Digital...

... exon expressed sequence tag gene expression genetic code genetic identification human human cell human chromosome human genome ... Novel RNAs identified from a in-depth analysis of the transcriptome of human chromosomes 21 and 22 ... genetics oligonucleotide probe tumor cell line tumor gene validation study Cell Line Tumor Chromosome Mapping Chromosomes Human ... Novel RNAs identified from a in-depth analysis of the transcriptome of human chromosomes 21 and 22. Genome Research, 14 (3). pp ...
more infohttp://repository.cshl.edu/25296/

Genome-wide estimation of firing efficiencies of origins of DNA replication from time-course copy number variation data | BMC...Genome-wide estimation of firing efficiencies of origins of DNA replication from time-course copy number variation data | BMC...

We have successfully estimated firing efficiencies of all origins in S.cerevisiae, S.pombe and human chromosomes 21 and 22. ... It is initiated from several hundreds of origins along whole chromosome with different firing efficiencies (or frequency of ... 12859_2010_3704_MOESM2_ESM.PDF Additional file 2: Predicated origins of S.cerevisiae , S.pombe and Human chromosomes 21 and 22 ... This file contains the tables of predicted origins of S.cerevisiae, S.pombe and Human chromosomes 21 and 22. Each table ...
more infohttps://bmcbioinformatics.biomedcentral.com/articles/10.1186/1471-2105-11-247

Identification of novel target genes by an epigenetic reactivation screen of renal cancer. - Semantic ScholarIdentification of novel target genes by an epigenetic reactivation screen of renal cancer. - Semantic Scholar

Comprehensive analysis of CpG islands in human chromosomes 21 and 22.. *Daiya Takai, Peter A. Jones ... A mouse skin multistage carcinogenesis model reflects the aberrant DNA methylation patterns of human tumors.. *Mario F Fraga, ... A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer. *Hiromu ...
more infohttps://www.semanticscholar.org/paper/Identification-of-novel-target-genes-by-an-screen-Caceres-Dulaimi/4b609f05ba4741b3c78106ace0568eb7c91271db

Isochore (genetics) - WikipediaIsochore (genetics) - Wikipedia

Häring and Kypr; Kypr, J (2001). "No Isochores in the Human Chromosomes 21 and 22?". Biochemical and Biophysical Research ... 2006). "An isochore map of human chromosomes". Genome Research. 16 (4): 536-541. doi:10.1101/gr.4910606. PMC 1457033 . PMID ... 1985). The human genome, for example, was described as a mosaic of alternating low and high GC content isochores belonging to ... A comprehensive study of the human genome unraveled a genomic organization where two-thirds of the genome is a mixture of many ...
more infohttps://en.wikipedia.org/wiki/Isochore_(genetics)

CpG site - WikipediaCpG site - Wikipedia

Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... Takai D, Jones PA (2002). "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6 ... About 70% of human promoters have a high CpG content. Given the frequency of GC two-nucleotide sequences, the number of CpG ... For example, in the human genome, which has a 42% GC content, a pair of nucleotides consisting of cytosine followed by guanine ...
more infohttps://en.wikipedia.org/wiki/CpG_site

Frontiers | DNA methylation dynamics in muscle development and disease | Frontiers in Aging NeuroscienceFrontiers | DNA methylation dynamics in muscle development and disease | Frontiers in Aging Neuroscience

Takai, D., and Jones, P. A. (2002). Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc. Natl. Acad. Sci ... Mohandas, T., Sparkes, R. S., and Shapiro, L. J. (1981). Reactivation of an inactive human X chromosome: evidence for X ... Genes Chromosomes Cancer 46, 1028-1038. doi: 10.1002/gcc.20489. Pubmed Abstract , Pubmed Full Text , CrossRef Full Text , ... Ioshikhes, I. P., and Zhang, M. Q. (2000). Large-scale human promoter mapping using CpG islands. Nat. Genet. 26, 61-63. doi: ...
more infohttps://www.frontiersin.org/articles/10.3389/fnagi.2015.00019/full

Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)

Categories: Chromosomes, Human, 21-22 and Y Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
more infohttps://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Chromosomes,+Human,+21-22+and+Y&parentid=6376&catid=6430

Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)

Categories: Chromosomes, Human, 21-22 and Y Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
more infohttps://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Chromosomes,+Human,+21-22+and+Y&parentid=6377&catid=6431

IJMS  | Free Full-Text | Epigenetic Mechanisms in Penile Carcinoma | HTMLIJMS | Free Full-Text | Epigenetic Mechanisms in Penile Carcinoma | HTML

Takai, D.; Jones, P.A. Comprehensive analysis of CPG islands in human chromosomes 21 and 22. Proc. Natl. Acad. Sci. USA 2002, ... Human Epigenetic Enzyme & Modulator Database), which integrates human epigenetic enzymes and their modulators, has been ... Human papillomavirus infection has been reported to have an important role in the development of a subset of PeCa, and its ... Huang, H.; Zhang, B.; Chen, W.; Zhou, S.M.; Zhang, Y.X.; Gao, L.; Xu, Z.G.; Qiao, Y.L.; Tang, P.Z. Human papillomavirus ...
more infohttp://mdpi.com/1422-0067/14/6/10791/htm

Epigenetic Regulation of Milk Production in Dairy Cows | Springer for Research & DevelopmentEpigenetic Regulation of Milk Production in Dairy Cows | Springer for Research & Development

Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Nat Acad Sci. 2002;99(6):3740-5.PubMedGoogle Scholar ... Cell shape regulates global histone acetylation in human mammary epithelial cells. Exp Cell Res. 2007;313(14):3066-75.PubMed ... A distal enhancer region in the human b-casein gene mediates the response to prolactin and glucocorticoid hormones. Gene. 1998; ... 22.. Stelwagen K. Effect of milking frequency on mammary function and shape of the lactation curve. J Dairy Sci. 2001;84(E- ...
more infohttps://rd.springer.com/article/10.1007/s10911-010-9164-2

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Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci U S A 2002;99:3740-5. ... The ZNF154 gene is located at chromosome 19q13.43 and encodes a transcription factor belonging to the human zinc finger Krüppel ... than any other chromosome after correction for number of CpG sites (P , 0.0001; Supplementary Fig. S7). Chromosome 21 ... Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer. Lab Invest 2004;84 ...
more infohttp://clincancerres.aacrjournals.org/content/17/17/5582

Global analysis of DNA methylation in young (J1) and senescent (J2) Gossypium hirsutum L. cotyledons by MeDIP-SeqGlobal analysis of DNA methylation in young (J1) and senescent (J2) Gossypium hirsutum L. cotyledons by MeDIP-Seq

Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci U S A. 2002;99: 3740-3745. doi: ... We counted read number stepwise using 10 kb/window on each chromosome and physically visualized the reads on chromosomes with ... An evaluation of new criteria for CpG islands in the human genome as gene markers. Bioinformatics. 2004;20: 1170-1177. doi: ... These reads were widely spread on each chromosome (Fig 2). The read distribution along a gene indicated that young cotyledons ...
more infohttp://pubmedcentralcanada.ca/pmcc/articles/PMC5513416/

Structural and functional analysis of the human TAF1/DYT3 multiple transcript system, Mammalian Genome | 10.1007/s00335-007...Structural and functional analysis of the human TAF1/DYT3 multiple transcript system, Mammalian Genome | 10.1007/s00335-007...

"Structural and functional analysis of the human TAF1/DYT3 multiple transcript system, Mammalian Genome" on DeepDyve, the ... Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Takai, D; Jones, PA ... Structural and functional analysis of the human TAF1/DYT3 multiple transcript system. Herzfeld, Thilo; Nolte, Dagmar; Müller, ... Structure of the human CCG1 gene: relationship between the exons/introns and functional domain/modules of the protein ...
more infohttps://www.deepdyve.com/lp/springer_journal/structural-and-functional-analysis-of-the-human-taf1-dyt3-multiple-Ou5L5ZNSx0

Drenkow J[Author] - PubMed - NCBI"Drenkow J"[Author] - PubMed - NCBI

Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution.. Cheng J, Kapranov P, Drenkow J, Dike S, Brubaker S, ... Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of ... Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. ... Landscape of transcription in human cells.. Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, Tanzer A, Lagarde ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?term=%22Drenkow%20J%22%5BAuthor%5D

Computational Methods for SNPs and Haplotype Inference - DIMACS/RECOMB Satellite Workshop, Piscataway, NJ, USA, November 21-22,...Computational Methods for SNPs and Haplotype Inference - DIMACS/RECOMB Satellite Workshop, Piscataway, NJ, USA, November 21-22,...

Patterns of Linkage Disequilibrium across Human Chromosomes 6, 21, AND 22. Pages 150-150 ... DIMACS/RECOMB Satellite Workshop, Piscataway, NJ, USA, November 21-22, 2002, Revised Papers. Editors. * Sorin Istrail ... DIMACS/RECOMB Satellite Workshop, Piscataway, NJ, USA, November 21-22, 2002, Revised Papers. Editors: Istrail, Sorin, Waterman ...
more infohttps://www.springer.com/us/book/9783540212492

Multi-omics and male infertility: status, integration and future prospectsMulti-omics and male infertility: status, integration and future prospects

D Takai, PA Jones: Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci U S A 99, 3740-3745 ... Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes including the gene ... Relative human sperm tail proteome study has revealed unique proteins which can be useful to set targets for male contraceptive ... T Hamatani: Human spermatozoal RNAs. Fertil Steril 97, 275-281 (2012). DOI: 10.1016/j.fertnstert.2011.12.035 ...
more infohttp://www.bioscience.org/2017/v9s/af/493/2.htm

Prediction of CpG Islands as an Intrinsic Clustering Property Found in Many Eukaryotic DNA Sequences and Its Relation to DNA...Prediction of CpG Islands as an Intrinsic Clustering Property Found in Many Eukaryotic DNA Sequences and Its Relation to DNA...

... of all genes in the human genome is overlapped by a CpG island (CGI). CGIs have known functions in the transcription initiation ... Takai D, Jones PA (2002) Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci U S A 99:3740 ... The promoter region of around 70% of all genes in the human genome is overlapped by a CpG island (CGI). CGIs have known ... Carpena P, Oliver JL, Hackenberg M et al (2011) High-level organization of isochores into gigantic superstructures in the human ...
more infohttps://link.springer.com/protocol/10.1007%2F978-1-4939-7768-0_3

CpG site - WikipediaCpG site - Wikipedia

Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6): 3740-5. doi:10.1073/pnas ... For example, in the human genome, which has a 42% GC content[3], a pair of nucleotides consisting of cytosine followed by ... The frequency of CpG dinucleotides in human genomes is 1%-less than one-quarter of the expected frequency. It was proposed that ...
more infohttps://en.wikipedia.org/wiki/CpG_island

Predicting promoters | The Scientist Magazine®Predicting promoters | The Scientist Magazine®

Finding the beginning of genes within genomic sequence presents a formidable challenge to projects to annotate the human genome ... FirstEF gave a similar performance when tested against the finished sequences for human chromosomes 21 and 22. ... Finding the beginning of genes within genomic sequence presents a formidable challenge to projects to annotate the human genome ... Finding the beginning of genes within genomic sequence presents a formidable challenge to projects to annotate the human genome ...
more infohttps://www.the-scientist.com/research-round-up/predicting-promoters-53950

Emerging Technologies to Study Long Non-coding RNAs | SpringerLinkEmerging Technologies to Study Long Non-coding RNAs | SpringerLink

2004) Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. Genome Research, 14 ... 2005). Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution. Science, 308, 1149.Google Scholar ... 1991). A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. ... 2003), The transcriptional activity of human Chromosome 22. Genes & Development, 17, 529.Google Scholar ...
more infohttps://link.springer.com/chapter/10.1007/978-1-4614-8621-3_7

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We found 12 putative new human transcripts mapping to a 2.37-Mb sequence from human chromosome 22q11-12, a region selected for ... Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. Genome Res 2004; 14: 331- ... Candidates for new human transcripts were identified by selecting clusters or single ESTs with no similarity to known human ... The transcriptional activity of human chromosome 22. Genes Dev 2003; 17: 529-40. ...
more infohttps://cancerres.aacrjournals.org/content/65/5/1693

Genomic evidence for non-random endemic populations of decaying exons from mammalian genesGenomic evidence for non-random endemic populations of decaying exons from mammalian genes

SNPs on human chromosomes 21 and 22 - analysis in terms of protein features and pseudogenes. Pharmacogenomics. 2002;3:393-402. ... Integrated pseudogene annotation for human chromosome 22: evidence for transcription. J Mol Biol. 2005;349:27-45. doi: 10.1016/ ... Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22. Genome research ... We focused on the human genome; therefore, this local gene order test was performed for the human data vs. cow, dog, chimp, ...
more infohttp://pubmedcentralcanada.ca/pmcc/articles/PMC2718932/
  • For example, in the human genome, which has a 42% GC content, a pair of nucleotides consisting of cytosine followed by guanine would be expected to occur 0.21 * 0.21 = 4.41% of the time. (wikipedia.org)
  • Cytogenetic abnormalities (eg, Klinefelter syndrome), Y chromosome deletions and monogenic disorders like cystic fibrosis account for only up to 30% of cases ( 6 , 7 ). (bioscience.org)
  • Carpena P, Oliver JL, Hackenberg M et al (2011) High-level organization of isochores into gigantic superstructures in the human genome. (springer.com)
  • 8 , 9 ) proposed that the human genome is composed of isochores, long DNA segments (≫300 kb) that are homogeneous in GC content. (pnas.org)
  • Compositional maps of human chromosomes revealed that ( i ) G bands are homogeneous in GC content and essentially consist of GC-poor isochores, and in contrast, ( ii ) R bands are heterogeneous and contain both GC-rich and -poor isochores ( 11 , 12 ). (pnas.org)
  • It is initiated from several hundreds of origins along whole chromosome with different firing efficiencies (or frequency of usage). (biomedcentral.com)
  • In human, ΨEs have significant over-representation for functional categories related to 'ion binding' and 'nucleic-acid binding', compared to duplicated exons in general. (pubmedcentralcanada.ca)
  • Five sites of dimer interaction were observed on the RankL gene centered at 16, 22, 60, 69, and 76 kb upstream of the TSS. (asm.org)
  • An evolutionarily conserved region within the human RANKL gene contained a similar vitamin D response element and exhibited an equivalent behavior. (asm.org)