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, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.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, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: 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.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, 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, 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, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.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, 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.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.Chromosomes, Human, Pair 20: A specific pair of GROUP F 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, 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.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.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.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.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.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.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.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.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.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.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.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.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.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.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).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."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.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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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).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.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.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)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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.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.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.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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.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.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.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.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.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).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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.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.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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)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)Genetic Variation: Genotypic differences observed among individuals in a population.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.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.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.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.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.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.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.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.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.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.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.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).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.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.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.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.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.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.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.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.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.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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.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.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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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.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.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.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.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).Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.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.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)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Homozygote: An individual in which both alleles at a given locus are identical.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).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.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.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.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.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.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.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.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.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.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)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)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.DNA, Neoplasm: DNA present in neoplastic tissue.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.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.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)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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.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.Bacterial Proteins: Proteins found in any species of bacterium.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.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.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.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)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.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

Insertion of excised IgH switch sequences causes overexpression of cyclin D1 in a myeloma tumor cell. (1/1049)

Oncogenes are often dysregulated in B cell tumors as a result of a reciprocal translocation involving an immunoglobulin locus. The translocations are caused by errors in two developmentally regulated DNA recombination processes: V(D)J and IgH switch recombination. Both processes share the property of joining discontinuous sequences from one chromosome and releasing intervening sequences as circles that are lost from progeny cells. Here we show that these intervening sequences may instead insert in the genome and that during productive IgH mu-epsilon switch recombination in U266 myeloma tumor cells, a portion of the excised IgH switch intervening sequences containing the 3' alpha-1 enhancer has inserted on chromosome 11q13, resulting in overexpression of the adjacent cyclin D1 oncogene.  (+info)

Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. (2/1049)

It is usually difficult to localize genes that cause diseases with late ages at onset. These diseases frequently exhibit complex modes of inheritance, and only recent generations are available to be genotyped and phenotyped. In this situation, multipoint analysis using traditional exact linkage analysis methods, with many markers and full pedigree information, is a computationally intractable problem. Fortunately, Monte Carlo Markov chain sampling provides a tool to address this issue. By treating age at onset as a right-censored quantitative trait, we expand the methods used by Heath (1997) and illustrate them using an Alzheimer disease (AD) data set. This approach estimates the number, sizes, allele frequencies, and positions of quantitative trait loci (QTLs). In this simultaneous multipoint linkage and segregation analysis method, the QTLs are assumed to be diallelic and to interact additively. In the AD data set, we were able to localize correctly, quickly, and accurately two known genes, despite the existence of substantial genetic heterogeneity, thus demonstrating the great promise of these methods for the dissection of late-onset oligogenic diseases.  (+info)

Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes. (3/1049)

The TCL1 oncogene on human chromosome 14q32.1 is involved in the development of T cell leukemia in humans. Its expression in these leukemias is activated by chromosomal translocations and inversions at 14q32.1. Here we report the isolation and characterization of a new member of the TCL1 gene family, TCL1b, located approximately 16 kb centromeric of TCL1. The 1.2-kb TCL1b cDNA encodes a 14-kDa protein of 128 aa and shows 60% similarity to Tcl1. Expression profiles of TCL1 and TCL1b genes are very similar: both genes are expressed at very low levels in normal bone marrow and peripheral lymphocytes but are activated in T cell leukemia by rearrangements of the 14q32.1 region. Thus, translocations and inversions at 14q32. 1 in T cell malignancies involve two oncogenes.  (+info)

Detection of t(14;18) carrying cells in bone marrow and peripheral blood from patients affected by non-lymphoid diseases. (4/1049)

AIMS/BACKGROUND: To assess the presence of bcl-2/JH rearrangements in bone marrow and peripheral blood lymphocytes from patients affected by diseases other than malignant lymphomas. The t(14;18) (q32;q21) translocation, which juxtaposes the bcl-2 oncogene on chromosome 18 and the JH segment of the immunoglobulin heavy chain (IgH) genes on chromosome 14, is found frequently in follicular lymphomas. METHODS: A sensitive semi-nested polymerase chain reaction (PCR) was used to detect t(14;18) translocation in bone marrow aspirates and peripheral blood lymphocytes from 48 patients. In 137 additional individuals peripheral blood lymphocytes only were tested. RESULTS: Cells carrying bcl-2/JH rearrangements were detected in about a quarter of the bone marrow samples and half of the peripheral blood lymphocyte samples. In seven patients, t(14;18) positive cells were found in both the bone marrow and peripheral blood lymphocyte samples. The size of the PCR products and bcl-2/JH DNA sequence analysis showed that the same t(14;18) carrying clone was present in the bone marrow and the corresponding peripheral blood lymphocyte samples in three of these seven patients. Some patients had more than one bcl-2/JH rearrangement. There was no significant correlation between age and the translocation incidence. Cells carrying the t(14;18) translocation were present in peripheral blood lymphocyte samples with a similar incidence--between 47% and 52% in all age groups from 20 to 79 years. Patients older than 80 years had a lower (37%) but not significantly different incidence. CONCLUSIONS: These findings suggest that patients affected by non-lymphoid diseases may have several t(14;18) carrying cells and some of them undergo a clonal expansion. Whether individuals with t(14;18) positive cells are at a higher risk of lymphoid malignancies remains unanswered and further epidemiological studies are required.  (+info)

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. (5/1049)

A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retinas, agenesis of the corpus callosum, pes calcaneovarus, reduced oesophageal peristalsis, and swallowing difficulties. This is the first reported case of PAX9 hemizygosity in humans. Haploinsufficiency of the PAX9 gene might be expected to cause some of the developmental defects and the dysphagia. Another haploinsufficiency candidate gene, the bZIP transcription factor gene NRL, which is specifically expressed in neuronal cells and the eye during embryogenesis, was excluded from the deletion interval.  (+info)

Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans. (6/1049)

Our work and that of others defined mitosis-specific (Rad21 subfamily) and meiosis-specific (Rec8 subfamily) proteins involved in sister chromatid cohesion in several eukaryotes, including humans. Mutation of the fission yeast Schizosaccharomyces pombe rec8 gene was previously shown to confer a number of meiotic phenotypes, including strong reduction of recombination frequencies in the central region of chromosome III, absence of linear element polymerization, reduced pairing of homologous chromosomes, reduced sister chromatid cohesion, aberrant chromosome segregation, defects in spore formation, and reduced spore viability. Here we extend the description of recombination reduction to the central regions of chromosomes I and II. We show at the protein level that expression of rec8 is meiosis specific and that Rec8p localizes to approximately 100 foci per prophase nucleus. Rec8p was present in an unphosphorylated form early in meiotic prophase but was phosphorylated prior to meiosis I, as demonstrated by analysis of the mei4 mutant blocked before meiosis I. Evidence for the persistence of Rec8p beyond meiosis I was obtained by analysis of the mutant mes1 blocked before meiosis II. A human gene, which we designate hrec8, showed significant primary sequence similarity to rec8 and was mapped to chromosome 14. High mRNA expression of mouse and human rec8 genes was found only in germ line cells, specifically in testes and, interestingly, in spermatids. hrec8 was also expressed at a low level in the thymus. Sequence similarity and testis-specific expression indicate evolutionarily conserved functions of Rec8p in meiosis. Possible roles of Rec8p in the integration of different meiotic events are discussed.  (+info)

Correlation of bcl-2 rearrangement with clinical characteristics and outcome in indolent follicular lymphoma. (7/1049)

The t(14;18) translocation, which involves the bcl-2 oncogene, occurs in follicular lymphomas (FL) at two common sites: the major breakpoint region (MBR) and the minor cluster region (mcr). The biological and clinical significance of these breakpoints is unknown. The bcl-2 breakpoint site was determined in 247 previously untreated patients (49% men; median age 52 years) with indolent FL (155 grade I, 83 grade II, and 8 grade III) to correlate it with pretreatment characteristics, response, and outcome. The bcl-2 breakpoint site was determined by a polymerase chain reaction method of peripheral blood (all cases), bone marrows (149 cases), and fresh lymph node biopsy specimens (68 cases). The breakpoint site occurred at MBR in 175 cases (71%) and at mcr in 27 (11%). In 45 cases (18%), no breakpoint was detected (germline). No significant relationship was found between the rearrangements and the expression of BLC-2 and BAX proteins. Patients' germline for MBR and mcr tended to present more frequently with stage IV disease and higher beta2-microglobulin (beta2M) levels, whereas mcr-rearranged patients presented more frequently with early stage and normal beta2M. The complete response rate of germline patients was significantly lower than that of MBR and mcr patients. An estimated 3-year failure-free survival (FFS) for mcr, MBR, and germline cases was 95%, 76%, and 57%, respectively (P <.001). The bcl-2 breakpoint site was independent of serum beta2M and lactate dehydrogenase in its correlation with FFS. In conclusion, the bcl-2 rearrangement site is an important prognostic factor in indolent FL, useful to identify patients who may require different treatment.  (+info)

Structural organization of the human Elk1 gene and its processed pseudogene Elk2. (8/1049)

In the ets gene family of transcription factors, ELK1 belongs to the subfamily of Ternary Complex Factors (TCFs) which bind to the Serum Response Element (SRE) in conjunction with a dimer of Serum Response Factors (SRFs). The primary structure of the human Elk1 gene was determined by genomic cloning. The gene structure of Elk1 spans 15.2 kb and consists of seven exons and six introns. The coding sequence resides on exons 3, 4, 5, 6 and 7. Sequencing of cDNA clones isolated from human hippocampus library revealed that the second exon was often skipped by an alternative splicing event. All introns commenced with nucleotides GT at the 5' boundary and ended with nucleotides AG at the 3' boundary, in agreement with the proposed consensus sequence for intron spliced donor and acceptance sites. Sequence inspection of the 5'-flanking region revealed the absence of a 'TATA' box and the presence of putative cis-acting regulatory elements such as Sp1, GATA-1, CCAAT, and c-Myb. Moreover, the sequence analysis of Elk2 locus on 14q32.3 confirmed that Elk2 gene corresponds to a processed pseudogene of Elk1 which has been reported between alpha 1 gene (IGHA1) and pseudo gamma gene (IGHGP) of immunoglobulin heavy chain. Furthermore, the results of Southern analysis using DNAs from human-mouse hybrid cell lines carrying a part of 14q32 region revealed that there is another locus hybridizing to Elk1 cDNA on 14q32.2 --> qter region in addition to Elk2 locus between IGHA1 and IGHGP loci.  (+info)

TY - JOUR. T1 - Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. AU - Kagami, Masayo. AU - Sekita, Yoichi. AU - Nishimura, Gen. AU - Irie, Masahito. AU - Kato, Fumiko. AU - Okada, Michiyo. AU - Yamamori, Shunji. AU - Kishimoto, Hiroshi. AU - Nakayama, Masahiro. AU - Tanaka, Yukichi. AU - Matsuoka, Kentarou. AU - Takahashi, Tsutomu. AU - Noguchi, Mika. AU - Tanaka, Yoko. AU - Masumoto, Kouji. AU - Utsunomiya, Takeshi. AU - Kouzan, Hiroko. AU - Komatsu, Yumiko. AU - Ohashi, Hirofumi. AU - Kurosawa, Kenji. AU - Kosaki, Kenjiro. AU - Ferguson-Smith, Anne C.. AU - Ishino, Fumitoshi. AU - Ogata, Tsutomu. PY - 2008/2. Y1 - 2008/2. N2 - Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3 (also known as GTL2), RTL1as (RTL1 antisense) and MEG8 (refs. 1,2), together with the intergenic ...
浜松市城西浄化センターにおけるMBRの初期運転について (第46回下水道研究発表会講演集) (2009 ...
Definition of robertsonian translocation in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is robertsonian translocation? Meaning of robertsonian translocation as a legal term. What does robertsonian translocation mean in law?
A Robertsonian translocation is a chromosomal abnormality that generally doesnt cause health problems. However, it can affect pregnancy, especially when it results in a fetus with a genetic condition that is incompatible with life. Well tell you what you can do if you have or suspect you have this translocation.
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
Enables deprecated DOS compatible mode, in this mode library checks for cylinders boundary, cases about CHS addressing and another obscure things.. ...
Hi there, I am researching chromosome 2 fusion theory. The theory that chromosome 2 and 3 was fused by a Robertsonian Translocation in two human-chimp common ancestors which mated giving us our chromosome 2 and 46 chromosomes instead of the other higher primates 48.. I was attempting to understand what the odds of this occurring were, to which end I want to know the odds that a chimp baby will be born with this mutation. I understand that 1 in 1000 human babies are born with a Robertsonian Translocation, is it the same for chimps?. ...
TY - JOUR. T1 - Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. AU - Stetten, G.. AU - Tuck-Muller, C. M.. AU - Blakemore, Karin. AU - Wong, C.. AU - Kazazian, Haig. AU - Antonarakis, S. E.. PY - 1990. Y1 - 1990. UR - http://www.scopus.com/inward/record.url?scp=0025670533&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0025670533&partnerID=8YFLogxK. M3 - Article. C2 - 2077349. AN - SCOPUS:0025670533. VL - 7. SP - 479. EP - 484. JO - Molecular Biology and Medicine. JF - Molecular Biology and Medicine. SN - 0735-1313. IS - 6. ER - ...
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
Tcl1兔多克隆抗体(ab32813)可与人样本反应并经WB实验严格验证,被1篇文献引用。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
Looking for online definition of Robertsonian in the Medical Dictionary? Robertsonian explanation free. What is Robertsonian? Meaning of Robertsonian medical term. What does Robertsonian mean?
A familial lympho-epithelial thymoma with constitutional chromosomal translocation t (14;20) (q24;p13) is presented: the thymoma and its particular translocation are present in the mother and the two sons of her offspring. The small number of cases do not allow establishing any relation between thymoma and this particular translocation. Concerning genetic counseling, an annual thoracic radiography is necessary for all the other family members, carriers or not of the translocation.
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Deletions imprinted region: implications for the development of paternal and maternal upd(14)-likeand epimutations affecting the human chromosome 14q32.2 phenotypes. Nat Genet 40: 237-242, ...
TY - JOUR. T1 - Impact of primary molecular cytogenetic abnormalities and risk of progression in smoldering multiple myeloma. AU - Rajkumar, S. V.. AU - Gupta, V.. AU - Fonseca, R.. AU - Dispenzieri, A.. AU - Gonsalves, W. I.. AU - Larson, D.. AU - Ketterling, R. P.. AU - Lust, J. A.. AU - Kyle, R. A.. AU - Kumar, S. K.. PY - 2013/8/1. Y1 - 2013/8/1. N2 - We studied 351 patients with smoldering multiple myeloma (SMM) in whom the underlying primary molecular cytogenetic subtype could be determined based on cytoplasmic immunoglobulin fluorescent in situ hybridization studies. Hundred and fifty-four patients (43.9%) had trisomies, 127 (36.2%) had immunoglobulin heavy chain (IgH) translocations, 14 (4%) both trisomies and IgH translocations, 53 (15.1%) no abnormalities detected and 3 (0.9%) had monosomy13/del(13q) in the absence of any other abnormality. Among 127 patients with IgH translocations, 57 were t(11;14), 36 t(4;14), 11 musculoaponeurotic fibrosarcoma (MAF) translocations, and 23 other or ...
Author Summary Each time a mammalian cell duplicates its genome in preparation for cell division it activates thousands of so called
Background:This study was conducted to analyze the frequency, expression patterns, and the impact of individual proteins BCL2, BCL6, and p53 on overall survival (OS) in adult, diffuse large B-cell lymphoma (DLBCL) Patients. BCL2 gene was further investigated for potential alterations at the DNA level and correlated with OS. Materials and Methods: A total of 117 adult well-characterized DLBCL cases were included. The panel of antibodies comprised CD45, CD20, CD79a, CD3, BCL2, BCL6, and p53. PCR was also employed to correlate the events at the DNA level in BCL2. Results: The mean and median ages were 47.74 and 49 with a M:F ratio of 2.07:1. The incidence of BCL2, BCL6, and p53 expression was observed in 64.10%, 37.60%, and 52.13% of cases, respectively. Amplifiable quality DNA was available from 90 cases. BCL2/IGH translocation was found in 35/90 Patients (38.88%) with 24 cases showing BCL2 (MBR)/IGH and 11 cases BCL2 (mcr)/IGH translocation. No association between BCL2 overexpression and BCL2 /IGH
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When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
Translocation is the exchange of chromosome segments, usually between nonhomologous chromosomes. There are two primary types of translocations: reciprocal translocations and Robertsonian translocations. A reciprocal translocation occurs when segments from nonhomologous chromosomes break off, with segment attaching to the other chromosome and vice-versa. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with tiny short arms, meaning the centromere is near one end) fuse at the centromere and lose their short arms.. Reciprocal translocations usually involve only two chromosomes, meaning the total chromosome number is unchanged. Reciprocal translocation are typically harmless, despite being more common in individuals so retarded that they require institutional care. There are three kinds of reciprocal translocation: alternate; adjacent-1; and adjacent-2.. Robertsonian translocations lead to a balanced karyotype with only 45 chromosomes. Because acrocentric short arms ...
A Robertsonian translocation 45,XY, t(13q; 14q) was detected in the leukocyte cultures of a phenotypically normal male. Silver staining technique for nucleolus organizer regions revealed that both acrocentrics involved in the translocation had lost their nucleolus organizers.
TY - JOUR. T1 - Mantle cell lymphoma with a novel t(11;12)(q13;p11.2). T2 - a proposed alternative mechanism of CCND1 up-regulation. AU - Menke, Joshua R.. AU - Vasmatzis, George. AU - Murphy, Stephen. AU - Yang, Lin. AU - Menke, David M.. AU - Tun, Han W. AU - King, Rebecca. AU - Smoley, Stephanie A.. AU - Ketterling, Rhett P.. AU - Sukov, William R.. PY - 2017/6/1. Y1 - 2017/6/1. N2 - Mantle cell lymphoma (MCL) is typically characterized by t(11;14), which places the [email protected] enhancer elements upstream of CCND1. This fusion results in up-regulation of CCND1 and consequently its protein product cyclin D1. Recent studies have shown that in MCL, mutations or translocations occurring within the 3′ untranslated region (UTR) of the CCND1 gene can result in a truncated mRNA transcript that is more stable and associated with more aggressive disease. We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11.2) by conventional cytogenetic studies. ...
Syvanen M, Ducore J. Whole genome comparisons reveals a possible chimeric origin for a major metazoan assemblage. Journal of Biological Systems, (18) 261-75. 2010. Zunino SJ, Storms DH, Ducore JM. Novel in vivo model of inducible multi-drug resistance in acute lymphoblastic leukemia with chromosomal translocation t(4;11). Cancer Lett. 2010 Oct 1;296(1):49-54. Epub 2010 Apr 9.. Zunino SJ, Storms DH, Ducore JM. Parthenolide treatment activates stress signaling proteins in high-risk acute lymphoblastic leukemia cells with chromosomal translocation t(4;11). Int J Oncol. 2010 Nov;37(5):1307-13.. Gofman I, Ducore JM. Risk Factors for the Development of Obesity in Children Surviving ALL and NHL. Journal of Pediatric Hematologyl Oncology, 31(2): 101-107. 2008. Zunino SJ, Ducore JM, Storms DH. Parthenolide induces significant apoptosis and production of reactive oxygen species in high-risk pre-B leukemia cells. Cancer Letters, 254(1): 119-27. 2007. Winter S, Holdsworth MT, Devidas M, Raisch OW, ...
Do You Have Follicular Lymphoma? Join friendly people sharing true stories in the I Have Follicular Lymphoma group. Find forums, advice and chat with groups who share this life experience. A Follicular Lymphoma anonymous support group with informatio...
Robertsonian translocation: Two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material ...
Changes in how follicular lymphoma is managed have led to substantial improvement in prognosis and over all survival for patients with the disease.
For patients with Relapsed/Refractory Follicular Lymphoma, second-line therapies are often successful in providing another remission.
New Insights into Transformed Follicular Lymphoma from the National LymphoCare Study - From the Blood Journals, News - ASH Clinical News
FDA granted approval to Bayer Healthcare Pharmaceuticals inhibitor Aliqopa (copanlisib) for the treatment of adults with relapsed follicular lymphoma.
After a fairly normal and easy labor and delivery, Cal made his debut! He wasnt breathing well on his own and needed respiratory support. Because we knew he might be born with some abnormalities, we had lots of doctors ready to care for him right when he was born. A heart echo was one of the things they did right away, and the results came back showing quite a few defects with his little heart. At that point it was pretty clear he had the unbalanced chromosome translocation, but the microarray test results confirming this would take over a week to get back ...
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Follicular lymphoma is the most common form of low-grade NHL and the second most common type of lymphoma overall diagnosed in the United States. Most follicular lymphoma diagnoses occur in adults over the age of 60, with equal rates of occurrence in male and female individuals; this specific lymphoma is rare in young people.. Follicular lymphoma affects B-cell lymphocytes and is indolent, which means it grows very slowly. Like most lymphomas, follicular lymphoma usually begins in the lymph nodes. The cells can spread into the blood and bone marrow. Other internal organs, including the liver and spleen, may also be affected.. Because follicular lymphoma grows so slowly, doctors may not treat it right away and instead adopt a "watchful waiting" approach. Over time, some follicular lymphomas transform into an aggressive (fast-growing) diffuse B-cell type of lymphoma, so its important for people with follicular lymphoma to be monitored closely. Learn more about the several treatment options that ...
LGFL - Low-Grade Follicular Lymphoma. Looking for abbreviations of LGFL? It is Low-Grade Follicular Lymphoma. Low-Grade Follicular Lymphoma listed as LGFL
Results Screening 16 different regions we detected additional genomic aberrations in 92% of the cases of mantle cell lymphoma. Common gains included 3q26, 8q24, 15q23, 7p15, and common losses 13q14, 11q22-q23, 9p21, 1p22, 17p13, 6q27, and 8p22. Deletions 8p22, 9p21, 13q14, and gain of 7p15 were associated with evidence of clonal heterogeneity. While there was no correlation of additional genomic aberrations and VH-mutation status, gain of 15q23 and deletion 6q27 were associated with lower disease stage (p=0.01 and p=0.04, respectively). Patients with deletion 13q14 had shorter overall survival times (p=0.01), and there was a strong trend towards inferior outcome in patients with deletion 9p21 (p=0.07). In multivariable analysis, loss of 13q14 and an International Prognosis Index score ≥ 3 turned out to be significantly associated with inferior clinical outcome (p=0.002 and p,0.001, respectively). ...
Maternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the paternally derived chromosome 15 is strongly supportive of the clinical diagnosis of PWS. Paternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the maternally derived chromosome 15 is strongly supportive of the clinical diagnosis of AS. The occurence of uniparental disomy is, however, rare in AS ...
Clinical trial for follicular lymphoma | Non-Hodgkins Lymphoma | Lymphoma , ME-401 in Subjects With Follicular Lymphoma After Failure of Two or More Prior Therapies (TIDAL)
Follicular lymphoma is a cancer of the B-cells that accounts for around one third of all cases of lymphoma. The cancer is a form of non-Hodgkin lymphoma that usually affects adults, with an average age-at-diagnosis of 60. Follicular lymphoma is more common among women than among men.
Mantle cell lymphoma (MCL) represents the fourth most common type of non-Hodgkin lymphomas. It is characterized by aggressive course and frequent relapses. The main aim of this review is to evaluate current treatment approach towards...
The follicular lymphoma BAC libraries and data is a publicly funded data resource. You are free to use the data supplied by or through this web site in your scientific analysis. If you publish or use this data, you are required to attribute the original source of the data as belonging to the High Resolution Analysis of Follicular Lymphoma Genomes Project.. Please see our Open Access Data Release Policy page for more information.. ...
This FLIPI calculator for follicular lymphoma stratifies survival rate in patients diagnosed with follicular lymphoma and certain adverse outcome factors.
The ICD-10 Code C90.12 is the code used for Plasma cell leukemia in relapse .An alternative description for this code is Plasma cell leukemia in ...
Balanced translocation definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now!
Roche has won European approval for cancer drug Gazyvaro as a treatment for some patients with previously treated follicular lymphoma, the most common type of indolent non-Hodgkins lymphoma. - News - PharmaTimes
Follicular lymphoma core concepts. Gene expression lifestyle wellness nutrition diet supplements remission natural regression tumor suppressor genes
Finding a Clinical, Molecular Risk Model That Predicts Disease Progression in Follicular Lymphoma - From the Blood Journals, News, Written in Blood - ASH Clinical News
FOLLICULAR LYMPHOMA description, symptoms and related genes. Get the complete information in our medical search engine for phenotype-genotype relation
Gazyva plus Revlimid seems to be a promising treatment for relapsed or refractory follicular lymphoma, according to the results of a clinical trial.
after the update to osx mountain lion my mbr was out of sync and i couldnt boot my gentoo (amd64) anymore (or windows for that matter). thought i share my experiences here how to get the dual/triple boot back (i.e. the mbr back in sync ...
Hoster, E, Dreyling, M, Klapper, W. "A new prognostic index (MIPI) for patients with advanced-stage mantle cell lymphoma". Blood. vol. 111. 2008. pp. 558(This analysis of outcome of 455 patients identified a new prognostic index predictive of survival in patients with advanced stage mantle cell lymphoma.). Determann, O, Hoster, E, Ott, G. "Ki-67 predicts outcome in advanced-staged mantle cell lymphoma patients treated with anti-CD20 immunochemotherapy: results from randomized trials of the European MCL Network and the German Low Grade Lymphoma Study Group". Blood.. vol. 111. 2008. pp. 2385-7. (In this paper, the Ki-67 fraction was identified as an independent predictor of survival in MCL.). Herrmann, A, Hoster, E, Zwingers, T. "Improvement of overall survival in advanced stage Mantle Cell Lymphoma". J Clin Oncol.. vol. 27. 2009. pp. 511(This paper demonstrated a significant improvement in the overall of patients with mantle cell lymphoma treated in the 1970 s and 80s compared to patients ...
The mantle cell lymphoma survival rate is extremely factor. One among those various dozen recognized and known bcell sub-types of all non-Hodgkins lymphoma, mantle cell lymphoma constitutes roughly 5% of most non-Hodgkins lymphoma investigations made annually
Dr. Ruan and colleagues provide an excellent summary of available treatment options, as well as new drugs on the horizon, for the management of relapsed mantle cell lymphoma (MCL). As the authors emphasize, treatment of relapsed MCL is strongly influenced by the patients first-line therapy and needs to be individualized based on both patient and disease characteristics. 1
The chromatin modifier EZH2 is overexpressed and associated with inferior outcome in mantle cell lymphoma (MCL). Recently, we demonstrated preferen...
Christian Winther Eskelund, MD, Copenhagen University Hospital, Rigshospitalet, discusses a study of TP53 mutations in mantle cell lymphoma.
While it is an exciting time for the treatment of mantle cell lymphoma (MCL), challenges still remain, according to Andre Goy, M.D., MS.
There are no therapies that appear to be uniquely effective for patients with mantle cell lymphoma who have pressed on ibrutinib.
Brad S. Kahl, MD, and John P. Leonard, MD, discuss promising agents and approaches in the future treatment of mantle cell lymphoma.
Follicular lymphoma (FL) is an indolent tumor of the lymphatic system, which may often remain inactive for years before undergoing transformation into an aggressive tumor.
Researchers conducted a study to determine if low levels of immune infiltration were associated with inferior outcomes among patients with follicular lymphoma.
In this case-based interview, Loretta Nastoupil, MD, provides an overview on the diagnosis and therapeutic management of follicular lymphoma. The case of a newly-diagnosed patient and the case of a patient with high-risk progressive disease are discussed.
Case report:. A 31-year-old female patient with the following gynecological and obstetrical history: gestations: 7, abortions 6, births 0, cesareans 1, children alive 1, children dead 0. Pregnancy 1: 12-year-old daughter, with no dysmorphia, from the second gestation 11 years ago to the seventh gestation occurred this year, have ended in spontaneous abortions before the first 12 weeks of gestation. With a cytogenetic study that reports Robertsonian translocation, 45, XX, t (13/15). ...
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details ...
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The term translocation is used when the location of specific chromosome material changes. There are two main types of translocations: reciprocal and Robertsonian
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... (MCL) belongs to a group of diseases known as non-HodgkinÕs lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood cells that make up the lymphatic system. There are two main types: B-lymphocytes (B-cells) and T-lymphocytes (T-cells). Mantel cell lymphoma is a B-cell lymphoma that develops from cancerous B-cells within a region of the lymph node known as the mantle zone. Although mantle cell lymphomas are slow-growing cancers, at the time of diagnosis, they are usually widespread in the lymph nodes and require intensive treatment because they can become lethal within a short period of time ...
Leukemic non-nodal mantle cell lymphoma (lMCL) is a particular subtype of mantle cell lymphoma (MCL), characterized by leukemic non-nodal disease and slow progression. Recognition of this entity is relevant to avoid overtreatment. Despite indolent clinical behaviour, lMCL might transform to a more aggressive disease. The purpose of this study was to compare lMCL with classical MCL (cMCL) and aggressive MCL (aMCL) using immunohistochemistry, interphase fluorescence in situ hybridization (FISH), and array-based comparative genomic hybridization, in order to identify biomarkers for lMCL diagnosis and prognosis. Seven lMCL patients were included. All had bone marrow involvement without lymphadenopathy. An lMCL phenotype was distinct from that of cMCL and aMCL: SOX11-, ATM+, PARP1+/-, and low KI67 (average 2 %). Beyond the t(11;14) translocation, fewer secondary cytogenetic alterations were found in lMCL compared to cMCL and aMCL, including deletion of PARP1 and 13q14. At last follow-up, one patient with
Centerin [SERPINA9/GCET1 (germinal centre B-cell-expressed transcript 1)] is a serpin (serine protease inhibitor) whose expression is restricted to germinal centre B-cells and lymphoid malignancies with germinal centre B-cell maturation. Expression of centerin, together with bcl-6 and GCET2, constitutes a germinal centre B-cell signature, which is associated with a good prognosis in diffuse large B-cell lymphomas, but the molecular basis for this remains to be elucidated. We report here the cloning, expression and molecular characterization of bacterial recombinant centerin. Biophysical studies demonstrated that centerin was able to undergo the stressed to relaxed conformational change which is an absolute requirement for protease inhibitory activity. Kinetic analysis showed that centerin rapidly inhibited the serine protease trypsin (ka=1.9×105 M−1·s−1) and also demonstrated measurable inhibition of thrombin (ka=1.17×103 M−1·s−1) and plasmin (ka=1.92×103 M−1·s−1). Centerin ...
TY - JOUR. T1 - Significance of MUM-1/IRF4 protein expression in follicular lymphoma. AU - Huo, Ying Ying. AU - Pan, Yi. AU - Guan, Bing Xin. AU - Fang, Ai Ju. AU - Sun, Bao Cun. AU - Zhou, Geng Yin. AU - Fu, Kai. AU - Meng, Bin. PY - 2011/8/8. Y1 - 2011/8/8. N2 - Objective To study the expression of MUM-1/IRF4 and its significance in follicular lymphoma. Methods Ninety-eight cases of follicular lymphoma were enrolled into the study. They were graded according to the 2008 WHO criteria. The expression of MUM-1/IRF4 protein and other markers (CDlO, bcl-6, bcl-2 and Ki-67) was studied using tissue microarray and immunohistochemistry. Results Amongst the 98 cases studied, there were 24 grade 1 cases, 30 grade 2 cases, 26 grade 3A cases and 18 were grade 3B cases. The rates of expression of MUM-1/IRF4, CD10, bcl-6, bcl-2 and Ki-67 ( ≥25% ) were 39. 8% ( 39/98 ) , 62.2% ( 61/98 ) , 80.6% ( 79/98 ) , 87.8% ( 86/98 ) and 50.0% ( 49/98 ) , respectively. MUM-1/IRF4 predominantly expressed in high-grade ...
I was diagnosed with Mantle cell lymphoma in June of 08 after discovering a lump in my armpit. Through testing they also discovered some of the mantle cells in my bone marrow. Because I was pretty much symptom free we decided to take the Watch and Wait approach. My oncologist consulted with Lance Armstrongs oncologist and this is what he also recommended.. Through CAT scans over the next year more and more of my lymph nodes were showing signs of the cancer cells so in June of 09 I started taking Rituxen, 4weeks on, 4-off, then four more treatments. I had great results from the treatment that regular Cat Scans proved.. At the beginning of 2010 I started having alot of difficulty with constipation so we scheduled a colonoscopy--which I was due for anyway. Three weeks ago I received the result and they discovered that my lymph nodes through out my colon were swelling and a large mass was found in my rectum, also a result of the mantle cell. Of course my first thought was this was a death sentence ...
I was diagnosed with Mantle cell lymphoma in June of 08 after discovering a lump in my armpit. Through testing they also discovered some of the mantle cells in my bone marrow. Because I was pretty much symptom free we decided to take the Watch and Wait approach. My oncologist consulted with Lance Armstrongs oncologist and this is what he also recommended.. Through CAT scans over the next year more and more of my lymph nodes were showing signs of the cancer cells so in June of 09 I started taking Rituxen, 4weeks on, 4-off, then four more treatments. I had great results from the treatment that regular Cat Scans proved.. At the beginning of 2010 I started having alot of difficulty with constipation so we scheduled a colonoscopy--which I was due for anyway. Three weeks ago I received the result and they discovered that my lymph nodes through out my colon were swelling and a large mass was found in my rectum, also a result of the mantle cell. Of course my first thought was this was a death sentence ...
Nonetheless, can one or more of these agents or combinations achieve biologic cure in patients with lymphoma? I submit we are already curing a substantial fraction of patients with follicular lymphoma despite its reputation as being incurable. Indeed, in my clinic, I am following scores of patients with follicular lymphoma who are alive and disease-free for up to a decade or longer, some having received chemoimmunotherapy, but others only doublets of biologic agents, and in the relapsed as well as front-line settings. We are currently conducting experiments using clonotypic next-generation sequencing to confirm my belief that their disease is forever gone.. Remaining Obstacles. So, what are the remaining obstacles to surmount to cure the rest of the patients? First, we need to better understand what molecular or genetic features distinguish those who are cured. Comparing responders with nonresponders using next-generation sequencing and other technologies into our prospective trials may generate ...
We are delighted that our article Stated preferences for relapsed or refractory mantle cell lymphoma treatments in Sweden and Germany has been published by Future Medicine.
When Margaret Cahill was diagnosed with Mantle cell lymphoma in 2012, she started a blog to keep in touch with family and friends.
Clinical trial for Relapsed/Refractory Follicular Non-Hodgkin Lymphoma , A Study Comparing Obinutuzumab and BGB-3111 Versus Obinutuzumab Alone in Treating R/R Follicular Lymphoma
Aims: The object of the present study was to develop a novel multiplex reverse transcription-polymerase chain reaction (RT-PCR)-based assay to detect four common recurrent chromosomal translocations t(9;22)(q34;q11), t(15;17)(q22;q12), t(8;21)(q22;q22), and t(1;19)(q23;q13). Results: This novel multiplex RT-PCR method can specifically detect these six positive plasmids with known transcripts, and the sensitivities ...
This study will assess the safety and efficacy of HCD122 (Lucatumumab) when combined with bendamustine in patients with follicular lymphoma.
OncologyPRO is the home of ESMOs educational & scientific resources, with exclusive content for ESMO members such as ESMOs Congresses webcasts,
Expert Michael L. Wang, MD, discusses the case of a 55-year-old male diagnosed with mantle cell lymphoma, including disease background, prognosis, and various therapy approaches.
A cache-conscious version of the R-tree, called the CR-tree, is disclosed. To pack more entries in a node, the CR-tree compresses MBR keys, which occupy substantial part of the index data. It first represents the coordinates of an MBR key relatively to the lower left corner of its parent MBR to eliminate the leading 0s from the relative coordinate representation. Then, it quantizes the relative coordinates with a fixed number of bits to further cut off the trailing less significant bits. Consequently, the CR-tree becomes significantly wider and smaller than the ordinary R-tree. The experimental and analytical results show that the two-dimensional CR-tree performs search faster than the ordinary R-tree while maintaining similar update performance and consuming less memory space.
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The gene paralog FAM71F1 and the gene LINC01000 directly neighbor FAM71F2 on chromosome 7. The gene spans 30,627 base pairs and ... FAM71F2 gene is located on chromosome 7 in humans (7q32.1), starting at 128,671,636 and ending at 128,702,262 on the positive ... The time of divergence between eight orthologs from the human FAM71F2 is shown in Figure 5. It is not found in birds or in ... Isoform a is the longest of the mRNA transcripts and spans 5,775 base pairs that translates into a 309 amino acids sequence. It ...
The TMEM251 gene is located on human chromosome 14, at 14q32.12, on the plus strand. The gene size is 1,277 base pairs. It ... The promoter region starts 500 base pairs upstream of the 5' UTR of TMEM251 mRNA transcript and contains part of this 5' UTR. ... "Q8N6I4 - TM251_HUMAN". UniProt. UnitProt. Retrieved 9 May 2015. "Human BLAT Search". UCSC Genome Browser. UCSC. Retrieved 9 May ... EST Profile data shows the tissue expression of TMEM251 in humans. TMEM251 has no paralogs in humans. It does have orthologs ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ... MORN1 is nearby the SKI gene which encodes the SKI protein, LOC100129534, and RER1 gene on the positive strand of chromosome 1. ...
In humans, Robertsonian translocations generally occur in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22. ... or non-homologous chromosomes (i.e. two different chromosomes, not belonging to a homologous pair). A feature of chromosomes ... This type of translocation is cytologically visible, and can reduce chromosome number (from 23 to 22 pairs, in humans) if the ... In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
The isoelectric point of EFHC2 is estimated to be 7.13 in humans. Relative to other proteins expressed in humans, EFHC2 has ... The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime ... EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is also one of a few, select number ... A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the ...
This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... This missing region corresponds to 85 base pairs near the end of the 5' UTR. Variant one is more abundant than Variant two with ... Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this ...
Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, ... Of the mRNA variants that have been found experimentally, the longest is 1,719 base pairs and produces a protein with 426 amino ... DeGrado-Warren J1, Dufford M, Chen J, Bartel PL, Shattuck D, Frech GC.) High-Throughput Proteomic Mapping of Human Interaction ... C14orf80 is 9,393 base pairs long and contains 11 exons that can be alternatively spliced to form different mRNA variants. ...
If two given DNA markers are far apart on the initial chromosome, then it is likely that they will appear in distinct fragments ... First of all, desired chromosomes are broken into several segments with X-rays, after which they are implanted in rodent cells ... Radiation hybrid mapping (also known as RH mapping) is a technique for mapping mammalian chromosomes. Radiation hybrid mapping ... which clone the chromosomes. Then these clones are analyzed for the presence of certain DNA markers. ...
Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair, ... Cantú ES, Thomas IT, Frias JL (September 1989). "Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child ... which affects chromosome 14. Fetuses with monosomy 14 are not viable. Only mosaic cases exist and these usually present with ... ISBN 0-683-03445-6. McConnell V, Derham R, McManus D, Morrison PJ (July 2004). "Mosaic monosomy 14: clinical features and ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... MutS protein homolog 4 is a protein that in humans is encoded by the MSH4 gene. The MSH4 and MSH5 proteins form a hetero- ... indicating that it is not needed for establishing the preceding stages of pairing and synapsis of homologous chromosomes. In an ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ...
In humans, CHST14 is positioned on the long arm (q) of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair ... Human CHST14 genome location and CHST14 gene details page in the UCSC Genome Browser. Otsuki T, Ota T, Nishikawa T, Hayashi K, ... August 2010). "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome". Human Mutation. 31 (8): 966-74. ... Mikami T, Mizumoto S, Kago N, Kitagawa H, Sugahara K (September 2003). "Specificities of three distinct human chondroitin/ ...
The CCDC47 gene itself is located on the minus strand of human chromosome 17 and contains 13 exon splice sites and 14 distinct ... In regards to the mRNA, translation begins at base pair 337 and ends at 1728. There is a strong stem loop located in the 5' UTR ... Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the ... Percent identity of human CCDC47 to a specific ortholog declines with increasing years of divergence, as expected. Homologous ...
... in the SLC39A9 gene can occur due to genetic deletion of the q24.1-24.3 band of base pairs within the human chromosome 14. This ... ZIP9 influxes zinc ions into the cytosol and its gene is expressed almost in every tissue of human body. The sub-cellular ... Role of human ZIP9 in testosterone-induced prostate and breast cancer cell apoptosis". Endocrinology. 155 (11): 4250-65. doi: ... A study in 2014, elucidated the intermediary role of ZIP9 in causing human breast and prostate cancer, as it induced the ...
... a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the ... "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National ... Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene. STAG3 protein is a component of a cohesin complex ... STAG3 appears to participate in sister-chromatid cohesion throughout the meiotic process in human oocytes. A homozygous 1-bp ...
The human NDUFB1 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFB1 gene, located on the q arm of chromosome 14 in position 32.12, is 5,687 base pairs long. The NDUFB1 protein weighs 7 ... NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 is an enzyme that in humans is encoded by the NDUFB1 gene. NADH ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene. It is also found in other ... The gene PAX 9 which can be found on chromosome 14 encodes a group of transcription factors that play an important role in ... In humans, a frameshift mutation in the paired domain of PAX 9 was discovered in those affected with oligodontia. Multiple ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: PAX9 paired box gene 9". Stapleton P, Weith A, Urbánek P, ...
It is located on the human chromosome 4 at 4q35.1. The function of the protein encoded by this gene is not well understood, but ... The total span of the gene, including 5' and 3' UTR, is 3149 base pairs. The gene is flanked on the left by NUDT13 (nudix ... Overall in the human body, this gene is expressed at levels slightly below the average human gene expression level. The protein ... A Systematic Exploration of the Human Interactome. Cell, 162(2), 425-440. doi:10.1016/j.cell.2015.06.043 "ABHD8_HUMAN". UniProt ...
In humans an origin of replication has been originally identified near the Lamin B2 gene on chromosome 19 and the ORC binding ... In other eukaryotes, including humans, the base pair sequences at the replication origins vary. Despite this sequence variation ... In humans, they are called oriH and oriL for the heavy and light strand of the DNA, each being the origin of replication for ... Genome of human herpesvirus-6, a member of the Herpesviridae family. The origin of replication is labeled as "OOR." ...
Covering a total of 45,038 base pairs (bp) along the chromosome, the TMEM229B gene has a total of 3 exons in its primary ... Transmembrane protein 229b is a protein that in humans is encoded by the TMEM229b gene. The TMEM229B gene is also known as ... "Human Gene TMEM229B (uc001xjk.2) Description and Page Index". UCSC Genome Browser. Retrieved 2011-04-19. "Gene: TMEM229B ( ... "Genecards". The Human Gene Compendium. Weizmann Institute of Science with Xennex Inc. Retrieved 24 April 2011. "Chromosomal ...
The mRNA is 3123 base pairs long and has 12 exons, the protein is 529 amino acids long and has a molecular weight of 61987 Da ... Basal body-orientation factor 1 (BBOF1) is a protein that in humans is encoded by the gene CCDC176, which is located on the ... plus strand of chromosome 14 at 14q24.3. CCDC176 is neighbored by ALDH6A1 and ENTPD5 at the same locus. ... The most prevalent and most likely interaction is with LIG4, a human gene that encodes the protein DNA Ligase IV. Two ...
... (chromosome 5 open reading frame 3) is a gene on chromosome 5 in humans that encodes a protein FAM114A2. The protein ... The coding sequence is 2886 base pairs with a 5' UTR of 94 base pairs and a 3' UTR of 1273 base pairs. It is expressed at high ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... It is also highly expressed in tissues in the human brain GRCh38: Ensembl release 89: ENSG00000055147 - Ensembl, May 2017 ...
The ALOX5 gene, which occupies 71.9 kilobase pairs (kb) on chromosome 10 (all other human lipoxygenases are clustered together ... Aberrant expression of LOX5 is seen in various types of human cancer tumors in vivo as well as in various types of human cancer ... Studies with cultured human cells have found that there are a large number of ALOX5 mRNA splice variants due to Alternative ... Human ALOX5 is a soluble, monomeric protein consisting of 673 amino acids with a molecular weight of ~78 kDa. Structurally, ...
... is essential for homologous chromosome pairing in meiosis during spermatogenesis. Targeted inactivation of FKBP6 in mice ... FK506 binding protein 6, also known as FKBP6, is a human gene. The encoded protein shows structural homology to FKBP ... 2003). "Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis". Science. 300 (5623): 1291-5. ... Mutations in this gene have been associated with male infertility in humans. FKBP6 is deleted in Williams syndrome, however ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Chromosome Mapping* * Chromosomes, Human, Pair 14 / genetics* * Female * Genetic Linkage / genetics * Genetic Markers ... A locus on chromosome 14q (MNG1 [multinodular goiter 1]) has been identified, with a maximal two-point LOD score of 3.8 at ... Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary ... which is located on chromosome 14q, is outside the linked region. To determine the role of this gene in familial nonmedullary ...
Chromosomes, Human, Pair 11 / genetics * Chromosomes, Human, Pair 14 / genetics * Chromosomes, Human, Pair 18 / genetics ... 14)(p22;q32), t(14;18)(q32;q21), t(3;14)(q27;q32), and the recently described t(3;14)(p14.1;q32). This apparent complexity of ...
Chromosomes, Human, Pair 14 / genetics * Chromosomes, Human, Pair 14 / metabolism * Codon, Nonsense ... Immunoblotting confirmed VPS16B expression in various human tissues and cells including megakaryocytes and platelets, and also ...
We have identified 24 patients at our institution who had t(11;14 ... 14)(q13;q32). Here, we describe the clinical characteristics of ... Chromosomes, Human, Pair 11 / genetics, ultrastructure*. Chromosomes, Human, Pair 14 / genetics, ultrastructure*. Creatinine / ... Humans. Leukemia, Plasma Cell / genetics, mortality, pathology. Multiple Myeloma / drug therapy, genetics*, mortality, ... 2004308 - Extramedullary blast crisis in a patient with philadelphia chromosome-positive chronic .... 12506758 - Prognostic ...
There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. The ... called chromosomes. These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. ... These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. www.Options-Trading- ... The human genome is the sum total of all human genes.Human genes are present on long strands of DNA (complex molecules) called ...
... respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,- ... In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with ... In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with ... respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,- ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Measuring chromosome imbalance could clarify cancer prognosis. Most human cells have 23 pairs of chromosomes. Any deviation ... New role in spatial chromosome organization identified for often mutated cancer protein. New research from The Wistar Institute ... Researchers from the Hubrecht Institute and Radboud University have developed a human model in which they use organoids, or ... These countries have high incidences of cervical cancer linked to human papillomavirus ... ...
Chromosomes, Human, Pair 14 / genetics * Chromosomes, Human, Pair 18 / genetics * Cyclophosphamide / therapeutic use ...
At 2 metres in length, the human genome is longer than the average human but it needs to be packaged inside the nucleus of ... If youve ever put a pair of headphones in your pocket, youll know how difficult it is to keep a long cord in a bundle without ... Individual chromosomes snake in and out of these two compartments and when a given gene is activated, it moves from one to the ... What is the difference between the human genome and a pair of headphones? * facebook ...
The human genome comprises about 3 billion nucleotides organized into 23 chromosome pairs. Each chromosome comprises DNA and ... The isolated sequences are no longer located on a human chromosome and therefore are not necessarily assembled in the native ... While a human body does transcribe a gene into mRNA, which is then translated into a protein, the human body does not isolate ... Genes and human genetic sequences are comprised of DNA. The term DNA is an acronym for a chemical compound which is also known ...
The TMEM251 gene is located on human chromosome 14, at 14q32.12, on the plus strand. The gene size is 1,277 base pairs. It ... The promoter region starts 500 base pairs upstream of the 5 UTR of TMEM251 mRNA transcript and contains part of this 5 UTR. ... "Q8N6I4 - TM251_HUMAN". UniProt. UnitProt. Retrieved 9 May 2015. "Human BLAT Search". UCSC Genome Browser. UCSC. Retrieved 9 May ... EST Profile data shows the tissue expression of TMEM251 in humans. TMEM251 has no paralogs in humans. It does have orthologs ...
Ex humans have 46 chromosomes 23 pairs of chromosomes *Source of pairs each parent provides one chromosome of the pair ... 12.2 Chromosome Number 15. 12.2 Chromosome Number*Diploid (2n) a cell with the double set of chromosomes ... 12.2 Chromosome Number*Meiosis process that produces haploid gametes (sperm eggs) *It can also produce spores haploid cells ... Chapter 2 - Title: Chapter 2 Chromosomes and Sexual Reproduction Author: Jill Last modified by: Jill Carroll Created Date: 1/17 ...
Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
The gene paralog FAM71F1 and the gene LINC01000 directly neighbor FAM71F2 on chromosome 7. The gene spans 30,627 base pairs and ... FAM71F2 gene is located on chromosome 7 in humans (7q32.1), starting at 128,671,636 and ending at 128,702,262 on the positive ... The time of divergence between eight orthologs from the human FAM71F2 is shown in Figure 5. It is not found in birds or in ... Isoform a is the longest of the mRNA transcripts and spans 5,775 base pairs that translates into a 309 amino acids sequence. It ...
The human genome consists of approximately 22,000 genes packed into 23 pairs of chromosomes. Each gene is encoded as DNA, which ... 5] "Starting from a region on the long arm of human chromosome 17 of the human genome, 17q, which has a size estimated at about ... Chromosome 17 has approximately 80 million nucleotides, and chromosome 13 has approximately 114 million. Association for ... A pairs with T; C pairs with G. The nucleotide cross-bars are chemically connected to a sugar-phosphate backbone that forms the ...
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379-91. ... The following is a partial list of genes on human chromosome 5. For complete list, see the link in the infobox on the right. ... Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet. 39 (2): 81-90. doi:10.1136/jmg.39.2.81. PMC ... The following are some of the gene count estimates of human chromosome 14. Because researchers use different approaches to ...
28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 14 15 P in a R T ?? 15 3 W on a T 3 wheels on a tricycle 16 100 C in a R ??. 17 11 P in a F (S) T 11 players in a football ( ... 14) 15 players on a rugby team. 19) 13 is unlucky for some. 20) 8 tentacles on an octopus. ...
In human cells there are 22 pairs of autonomic chromosomes. and two sex chromosomes. These chromosomes contain information for ... base pairs to 9.2 kilobases (Internet 3). Over 100 disease-associated mutations. have be identified to this gene (Internet 3) ... BRCA1 is located on chromosome 17q21 and BRCA2 on. 13q(Internet 2). A person that possesses certain mutations to these genes ... BRCA2 is located on chromosome 13q12(Internet. 2). Little additional detail about this gene is available. Testing for BRCA2 is ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
Chapter 14 Vocabulary. Announcements: 1-30. Tutoring - Troy Central - Tomorrow - Wednesday!! Sections 14.1 and 14.2 from ... of homologous chromosomesHuman diploid cell has ____ chromosomes arranged in ____ pairs • The 46 chromosomes contain Two ... Human Chromosomes • Karyotype: • A picture of chromosomes taken during mitosis and cut out and arranged into homologous pairs. ... Human Heredity II. Human Traits • Humans have 46 total chromosomes • 44 _____________ follow regular Mendelian genetics • 2 ...
Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. ... The first pair of thiols are regulated via isomerisation with a second pair of redox-active thiols to form a pair of nested ... In human ERO1, two disulfide-forming Cys pairs, Cys 94/Cys 99 and Cys 394/Cys 397, constitute the redox-active enzymatic center ... 1998) determined ω = 0.77, much higher than the average of ω = 0.12 determined for ~13000 pairs of human/mouse orthologs. A ...
Keywords: chromosomes, human, pair 14, ring chromosomes, ring 14 syndrome, 14q terminal deletion syndrome, coloboma, ... chromosomes, human, pair 14, ring chromosomes, ring 14 syndrome, 14q terminal deletion syndrome, coloboma, microphthalamos, ... We report a child with a 14q32.31 terminal deletion and ring chromosome formation, presenting with severe visual impairment ... We report a child with a 14q32.31 terminal deletion and ring chromosome formation, presenting with severe visual impairment ...
The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ... MORN1 is nearby the SKI gene which encodes the SKI protein, LOC100129534, and RER1 gene on the positive strand of chromosome 1. ...
Using an experimentally acquired dataset for human chromosome 14, tandem repeats > 200 bp were assembled. Alignment of the ... is derived from an identity-based protocol without pairing. Moreover, this proposed protocol is provably secure in the CK model ... for the assembly of repetitive sequences by constructing contigs directly from paired-end reads. ... contigs to the human genome reference (GRCh38) revealed that 84.3% of tandem repetitive regions were correctly covered. For ...
  • Mapping By PCR analysis of a human-hamster somatic hybrid DNA panel, Funk et al. (wikipedia.org)
  • Radiation hybrid mapping (also known as RH mapping) is a technique for mapping mammalian chromosomes. (wikipedia.org)
  • The mapping process is computationally very expensive since the reference genome is very large (e.g., the human genome has 3.2 gigabase-pairs). (biomedcentral.com)
  • In addition, the ubiquitous common repeats and segmental duplications within the human genome complicate the task since a short read from such a genome segment corresponds to a large number of mapping locations in the reference genome. (biomedcentral.com)
  • The seed-and-extend heuristic is developed based on the observation that for a correct mapping, the short query read and its corresponding reference fragment, which is the piece of the reference genome that the query read should map to, must share some brief regions (usually 10-100 base-pair-long) of exact or inexact matches. (biomedcentral.com)
  • Among the three mosquito genera, namely Anopheles , Aedes, and Culex , a well-established chromosome-based mapping technique has been developed only for Anopheles , whose members possess readable polytene chromosomes 1 . (jove.com)
  • In addition to physical mapping, the developed technique can be applied to population cytogenetics and chromosome taxonomy/systematics of mosquitoes and other insect groups. (jove.com)
  • At the time, cloning techniques allowed for generation of clones of limited size (up to 240kb), and cytogenetic techniques allowed for mapping such clones to a small region of a particular chromosome to a resolution of around 5-10Mb. (wikipedia.org)
  • In the case of an insertion or a deletion, mapping of the paired-end is consistent with the reference genome. (wikipedia.org)
  • Mutations in the human gene may contribute to the condition of Klippel-Feil syndrome, which is the failure of the vertebrae to segment near the top of the spine and possibly further down with symptoms including a short, immovable neck and a low hairline on the back of the head. (wikipedia.org)
  • Investigators have determined that Krabbe's Leukodystrophy may be caused by disruption or changes (mutations) of the human galactocerebrosidase (GALC) gene located on the long arm (q) of chromosome 14 (14q31). (rarediseases.org)
  • These numerous mutations should have produced a large number of intermediate haplotypes, but the intermediates have almost entirely disappeared, and the divergent yin and yang haplotypes are prevalent in populations representing every major human ancestry. (wustl.edu)
  • Mutations in this gene have been associated with male infertility in humans. (wikipedia.org)
  • Molecular Location on chromosome 17: base pairs 17,056,252 to 17,081,230 (NCI Build 36.1) Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors. (wikipedia.org)
  • A region spanning chromosome 17p11 was identified and mutations in a novel gene, FLCN, were subsequently found in the germline of individuals affected with BHD syndrome. (wikipedia.org)
  • New findings show that each human has on average 60 new mutations compared to their parents. (wikipedia.org)
  • Connections between mutations in the Keratin family and bullous congenital ichthyosiform erythroderma have been made, on account of type II cytokeratins being found clustered in a region of chromosomes 12q12-q13. (wikipedia.org)
  • The paternal age is a factor in schizophrenia because of the increased likelihood of mutations in the chromosomes of cells that produce sperms. (wikipedia.org)
  • Most of these mutations insert or delete a small number of DNA building blocks (base pairs) in the TCOF1 gene. (wikipedia.org)
  • In particular, an (AAT)n microsatellite repeat motif mapped by fluorescence in situ hybridization on part of W chromosome in V. acanthurus only, whereas a (CGG)n motif mapped onto the W chromosomes of V. gouldii and V. rosenbergi. (jove.com)
  • Restoration of Telomeres in Human Papoillomavirus-Immortalized Human Anogenital Epithelial Cells," Molecular and Cellular Biology 14:961-969 (1994). (freepatentsonline.com)
  • A locus on chromosome 14q (MNG1 [multinodular goiter has been identified, with a maximal two-point LOD score of 3.8 at D14S1030 and a multipoint LOD score of 4.88 at the same marker, defined by D14S1062 (upper boundary) and D14S267 (lower boundary). (nih.gov)
  • 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most unrelated lipoxygenase (5-lipoxygenase) was mapped to chromosome 10. (wikipedia.org)
  • Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity," EMBO J 11:1921-1929 (May 5, 1992). (freepatentsonline.com)
  • 1992). T-banded chromosomes were photographed under a Zeiss Photomicroscope II using a Neofluar oil immersion objective (100X), double immersion and phase contrast. (scielo.br)
  • Skeletal Muscle (2018) 8:16 Page 2 of 6 causes deletion (skipping) of exon 7 in the DMD tran- Masticatory, lingual, paraspinal, supraspinatus, and script, with a resulting frameshift and premature stop cranial tibial (CT) muscles were examined with bipolar codon in exon 8 [14]. (deepdyve.com)
  • These patterns were confirmed by scanning T-banded endoreduplicated CHO chromosomes in which the same interchromatid distribution of HD chromatin appeared in both sister chromosomes (Drets and Mendizábal, 1998). (scielo.br)