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.

A sequence-ready BAC clone contig of a 2.2-Mb segment of human chromosome 1q24. (1/1666)

Human chromosomal region 1q24 encodes two cloned disease genes and lies within large genetic inclusion intervals for several disease genes that have yet to be identified. We have constructed a single bacterial artificial chromosome (BAC) clone contig that spans over 2 Mb of 1q24 and consists of 78 clones connected by 100 STSs. The average density of mapped STSs is one of the highest described for a multimegabase region of the human genome. The contig was efficiently constructed by generating STSs from clone ends, followed by library walking. Distance information was added by determining the insert sizes of all clones, and expressed sequence tags (ESTs) and genes were incorporated to create a partial transcript map of the region, providing candidate genes for local disease loci. The gene order and content of the region provide insight into ancient duplication events that have occurred on proximal 1q. The stage is now set for further elucidation of this interesting region through large-scale sequencing.  (+info)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (2/1666)

p73, a novel p53 family member, is a recently identified candidate neuroblastoma (NBL) suppressor gene mapped at chromosome 1p36.33 and was found to inhibit growth and induce apoptosis in cell lines. To test the hypothesis that p73 is a NBL suppressor gene, we analysed the p73 gene in primary human NBLs. Loss of heterozygosity (LOH) for p73 was observed in 19% (28/151) of informative cases which included 92 mass-screening (MS) tumors. The high frequency of p73 LOH was significantly associated with sporadic NBLs (9% vs 34%, P<0.001), N-myc amplification (10% vs 71%, P<0.001), and advanced stage (14% vs 28%, P<0.05). Both p73alpha and p73beta transcripts were detectable in only 46 of 134 (34%) NBLs at low levels by RT-PCR methods, while they were easily detectable in most breast cancers and colorectal cancers under the same conditions. They found no correlation between p73 LOH and its expression levels (P>0.1). We found two mutations out of 140 NBLs, one somatic and one germline, which result in amino acid substitutions in the C-terminal region of p73 which may affect transactivation functions, though, in the same tumor samples, no mutation of the p53 gene was observed as reported previously. These results suggest that allelic loss of the p73 gene may be a later event in NBL tumorigenesis. However, p73 is infrequently mutated in primary NBLs and may hardly function as a tumor suppressor in a classic Knudson's manner.  (+info)

Homozygosity mapping to the USH2A locus in two isolated populations. (3/1666)

Usher syndrome is a group of autosomal recessive disorders characterised by progressive visual loss from retinitis pigmentosa and moderate to severe sensorineural hearing loss. Usher syndrome is estimated to account for 6-10% of all congenital sensorineural hearing loss. A gene locus in Usher type II (USH2) families has been assigned to a small region on chromosome 1q41 called the UHS2A locus. We have investigated two families with Usher syndrome from different isolated populations. One family is a Norwegian Saami family and the second family is from the Cayman Islands. They both come from relatively isolated populations and are inbred families suitable for linkage analysis. A lod score of 3.09 and 7.65 at zero recombination was reached respectively in the two families with two point linkage analysis to the USH2A locus on 1q41. Additional homozygosity mapping of the affected subjects concluded with a candidate region of 6.1 Mb. This region spans the previously published candidate region in USH2A. Our study emphasises that the mapped gene for USH2 is also involved in patients from other populations and will have implications for future mutation analysis once the USH2A gene is cloned.  (+info)

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. (4/1666)

Members of the transforming growth factor (TGF)-beta family of cell-signaling molecules have been implicated recently in mammalian left-right (LR) axis development, the process by which vertebrates lateralize unpaired organs (e.g., heart, stomach, and spleen). Two family members, Lefty1 and Lefty2, are expressed exclusively on the left side of the mouse embryo by 8.0 days post coitum. This asymmetry is lost or reversed in two murine models of abnormal LR-axis specification, inversus viscerum (iv) and inversion of embryonic turning (inv). Furthermore, mice homozygous for a Lefty1 null allele manifest LR malformations and misexpress Lefty2. We hypothesized that Lefty mutations may be associated with human LR-axis malformations. We now report characterization of two Lefty homologues, LEFTY A and LEFTY B, separated by approximately 50 kb on chromosome 1q42. Each comprises four exons spliced at identical positions. LEFTY A is identical to ebaf, a cDNA previously identified in a search for genes expressed in human endometrium. The deduced amino acid sequences of LEFTY A and LEFTY B are more similar to each other than to Lefty1 or Lefty2. Analysis of 126 human cases of LR-axis malformations showed one nonsense and one missense mutation in LEFTY A. Both mutations lie in the cysteine-knot region of the protein LEFTY A, and the phenotype of affected individuals is very similar to that typically seen in Lefty1-/- mice with LR-axis malformations.  (+info)

Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. (5/1666)

Combining data from a genomic screen in 70 families with a high risk for prostate cancer (PC) with data from candidate-region mapping in these families and an additional 71 families, we have localized a potential hereditary PC-susceptibility locus to chromosome 1p36. Because an excess of cases of primary brain cancer (BC) have been observed in some studies of families with a high risk for PC, and because loss of heterozygosity at 1p36 is frequently observed in BC, we further evaluated 12 families with both a history of PC and a blood relative with primary BC. The overall LOD score in these 12 families was 3.22 at a recombination fraction (theta) of .06, with marker D1S507. On the basis of an a priori hypothesis, this group was stratified by age at diagnosis of PC. In the younger age group (mean age at diagnosis <66 years), a maximum two-point LOD score of 3.65 at straight theta = .0 was observed, with D1S407. This linkage was rejected in both early- and late-onset families without a history of BC (LOD scores -7.12 and -6.03, respectively, at straight theta = .0). After exclusion of 3 of the 12 families that had better evidence of linkage to previously described PC-susceptibility loci, linkage to the 1p36 region was suggested by a two-point LOD score of 4.74 at straight theta = .0, with marker D1S407. We conclude that a significant proportion of these families with both a high risk for PC and a family member with BC show linkage to the 1p36 region.  (+info)

Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. (6/1666)

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)

Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (7/1666)

Protein tyrosine phosphatases act in conjunction with protein kinases to regulate the tyrosine phosphorylation events that control cell activation and differentiation. We have isolated a previously undescribed human phosphatase, Lyp, that encodes an intracellular 105-kD protein containing a single tyrosine phosphatase catalytic domain. The noncatalytic domain contains four proline-rich potential SH3 domain binding sites and an NXXY motif that, if phosphorylated, may be recognized by phosphotyrosine binding (PTB) domains. Comparison of the Lyp amino acid sequence with other known proteins shows 70% identity with the murine phosphatase PEP. The human Lyp gene was localized to chromosome 1p13 by fluorescence in situ hybridization analysis. We also identified an alternative spliced form of Lyp RNA, Lyp2. This isoform encodes a smaller 85-kD protein with an alternative C-terminus. The lyp phosphatases are predominantly expressed in lymphoid tissues and cells, with Lyp1 being highly expressed in thymocytes and both mature B and T cells. Increased Lyp1 expression can be induced by activation of resting peripheral T lymphocytes with phytohemagglutinin or anti-CD3. Lyp1 was found to be constitutively associated with the proto-oncogene c-Cbl in thymocytes and T cells. Overexpression of lyp1 reduces Cbl tyrosine phosphorylation, suggesting that it may be a substrate of the phosphatase. Thus, Lyp may play a role in regulating the function of Cbl and its associated protein kinases.  (+info)

Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. (8/1666)

Systemic lupus erythematosus (SLE) is the prototype of human autoimmune diseases. Its genetic component has been suggested by familial aggregation (lambdas = 20) and twin studies. We have screened the human genome to localize genetic intervals that may contain lupus susceptibility loci in a sample of 188 lupus patients belonging to 80 lupus families with two or more affected relatives per family using the ABI Prism linkage mapping set which includes 350 polymorphic markers with an average spacing of 12 cM. Non-parametric multipoint linkage analysis suggests evidence for predisposing loci on chromosomes 1 and 18. However, no single locus with overwhelming evidence for linkage was found, suggesting that there are no 'major' susceptibility genes segregating in families with SLE, and that the genetic etiology is more likely to result from the action of several genes of moderate effect. Furthermore, the support for a gene in the 1q44 region as well as in the 1p36 region is clearly found only in the Mexican American families with SLE but not in families of Caucasian ethnicity, suggesting that consideration of each ethnic group separately is crucial.  (+info)

*1q21.1 deletion syndrome

Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs split and a representative of each pair ... A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the ... pair is not complete, because a part of the sequence of the chromosome is missing. One chromosome has the normal length and the ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ...

*1q21.1 copy number variations

Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair ... In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 CNVs one chromosome ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... 1q21.1 copy number variations (CNVs) are rare aberrations of human chromosome 1. ...

*1q21.1 duplication syndrome

Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair ... In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome ... one chromosome of the pair is over complete, because a part of the sequence of the chromosome is duplicated twice or more. In ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ...

*Meiosis

For example, diploid human cells contain 23 pairs of chromosomes including 1 pair of sex chromosomes (46 total), half of ... Thus pairing is highly specific and exact. The paired chromosomes are called bivalent or tetrad chromosomes. The pachytene ( ... The paired and replicated chromosomes are called bivalents or tetrads, which have two chromosomes and four chromatids, with one ... The end result is production of four haploid cells (n chromosomes, 23 in humans) from the two haploid cells (with n chromosomes ...

*Wellcome Sanger Institute

The Institute was engaged in collaborations to sequence 8 of the 23 human pairs of chromosomes (1, 6, 9, 10, 13, 20, 22, and X ... "International Human Genome Sequencing Consortium Announces "Working Draft" of Human Genome". National Human Genome Research ... Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human genome". Nature. 431 (7011): 931- ... The Institute's research in human genetics focuses on the characterisation of human genetic variation in health and disease. ...

*SARS (gene)

The human SARS gene is located on the plus strand of chromosome 1, from base pair 109,213,893 to base pair 109,238,182. Seryl- ... It has two distinct domains: A catalytic core A 3 base pair serine binding N-terminal extension "SARS" and it's enzyme product ... SARS belongs to the class II amino-acyl tRNA family and is found in all humans; its encoded enzyme, seryl-tRNA synthetase, is ... It was not until 1997 that human SARS and its enzyme product were isolated and expressed in Escherichia coli by a team from The ...

*C1orf123

... is a gene located in the human genome on the short arm of chromosome 1 at p32.2, between 53,679,771 base pairs and ... 53,686,289 base pairs. It is 6,519 bases long with 8 exons and encodes the C1orf123 protein, also known as UPF0587. Gene ... C1orf123 (chromosome 1 open reading frame 23) is a gene in the human genome that encodes the protein of unknown function, ... The loss of the short arm of chromosome 1, the part of chromosome 1 that C1orf123 is located on, cause and parathyroid gland ...

*Afro-Brazilians

... since humans have 23 chromosome pairs in the cellular DNA. Analysing the Y chromosome, which comes from male ancestors through ... but one can have in mind that they are only a fraction of the human genome, and reading ancestry from Y chromosome and mtDNA ... The other is the Y chromosome, that is present only in males and passed down with only minor mutations through the paternal ... A study from 1965, "Methods of Analysis of a Hybrid Population" (Human Biology, vol. 37, no. 1), led by the geneticists D. F. ...

*PAX7

Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... PAX7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) PAX7 human gene location in the UCSC ...

*Chromosome 1 (human)

Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 ... spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the ... DENN1B hypothesized to be related to asthma Partial list of the genes located on p-arm (short arm) of human chromosome 1: ... See also: Category:Genes on human chromosome 1. The following is a partial list of genes on human chromosome 1. For complete ...

*Human chorionic gonadotropin

... encoded by six highly homologous genes that are arranged in tandem and inverted pairs on chromosome 19q13.3 - CGB (1, 2, 3, 5, ... Talwar GP (1997). "Fertility regulating and immunotherapeutic vaccines reaching human trials stage" (PDF). Human Reproduction ... Human chorionic gonadotropin (hCG) is a hormone produced by the placenta after implantation. The presence of hCG is detected in ... Human chorionic gonadotropin interacts with the LHCG receptor of the ovary and promotes the maintenance of the corpus luteum ...

*SH3D21

The human mRNA transcript is 2527 base pairs and the final protein product is 756 amino acids. While the exact function of this ... In humans, this gene is located on chromosome 1 p34.3. ... In humans, these SH3 domains have a common amino acid sequence ... The human protein has two isoforms and no paralogs. The second isoform is 645 amino acids long and is identical to the first ... Human Reproduction. 27 (3): 921-9. doi:10.1093/humrep/der440. PMID 22238114. Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, ...

*DNA

The set of chromosomes in a cell makes up its genome; the human genome has approximately 3 billion base pairs of DNA arranged ... Adenine pairs with thymine and guanine pairs with cytosine. It was represented by A-T base pairs and G-C base pairs. The ... For instance, the DNA in the largest human chromosome, chromosome number 1, consists of approximately 220 million base pairs ... A DNA helix usually does not interact with other segments of DNA, and in human cells, the different chromosomes even occupy ...

*Y chromosome

The DNA in the human Y chromosome is composed of about 59 million base pairs. The Y chromosome is passed only from father to ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... The chromosome with this allele became the Y chromosome, while the other member of the pair became the X chromosome. Over time ... For details, see human Y-chromosome DNA haplogroup. The following are some of the gene count estimates of human Y chromosome. ...

*Base pair

The haploid human genome (23 chromosomes) is estimated to be about 3.2 billion bases long and to contain 20,000-25,000 distinct ... The GU pairing, with two hydrogen bonds, does occur fairly often in RNA (see wobble base pair). Paired DNA and RNA molecules ... kb (= kbp) = kilo base pairs = 1,000 bp Mb (= Mbp) = mega base pairs = 1,000,000 bp Gb = giga base pairs = 1,000,000,000 bp. ... may be used for base pairs. The centimorgan is also often used to imply distance along a chromosome, but the number of base ...

*TMEM50A

Its mRNA sequence is 2284 base pairs in length and includes seven exons. The coding sequence is from base pairs 151 to 624. The ... 2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs ... This proteins gene is located on chromosome 7 open reading frame 43. Its function is also unknown. Investigation of several GEO ... Transmembrane protein 50A is a protein that in humans is encoded by the TMEM50A gene. This gene is located in the RH gene locus ...

*Histone

... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the dipliod ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331 . PMID ... triggering a cascade of changes that mediate mitotic chromosome condensation. Condensed chromosomes therefore stain very ...

*MSTO1

The MSTO1 gene is 5134 base pairs (located in chromosome 1) and the MSTO1 protein is 570 aminoacids in length. It is located in ... "An anthropoid-specific segmental duplication on human chromosome 1q22". Genomics. 88 (2): 143-51. doi:10.1016/j.ygeno.2006.02. ... "Human PubMed Reference:". "Mouse PubMed Reference:". Kuryshev VY, Vorobyov E, Zink D, Schmitz J, Rozhdestvensky TS, Munstermann ... "Human Misato regulates mitochondrial distribution and morphology". Exp. Cell Res. 313 (7): 1393-404. doi:10.1016/j.yexcr. ...

*Haplogroup S1a (Y-DNA)

Cox MP, Mirazón Lahr M (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian ... Haplogroup S1a is a human Y-DNA haplogroup, defined by SNPs Z41335, Z41336, Z41337, Z41338, Z41339, Z41340, and Z41341. S1a is ... European Journal of Human Genetics. 23. doi:10.1038/ejhg.2014.106. Kayser M, Choi Y, Van Oven M, Mona S, Brauer S, Trent RJ, ... "Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia". Eur J Hum ...

*Haplogroup S-M230

... genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup Molecular phylogenetics Paragroup Subclade Y-chromosome ... "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... Haplogroup S-M230, also known as S1a1b (and previously as S* or K2b1a4), is a Y-chromosome DNA haplogroup. It is by far the ...

*Y-DNA haplogroups in populations of Oceania

Y-chromosome haplotypes and implications for human history in the Pacific". Human Mutation. 17 (4): 271-80. doi:10.1002/humu.23 ... Cox, Murray P.; Mirazón Lahr, Marta (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... by human Y-chromosome DNA haplogroups based on relevant studies. Oceania Languages of Oceania Demographics of Oceania List of ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ...

*Haplogroup M-P256

Cox, Murray P.; Mirazón Lahr, Marta (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup molecular phylogeny Paragroup Subclade Y-chromosome ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... Haplogroup M, also known as M-P256 and Haplogroup K2b1b (previously K2b1d) is a Y-chromosome DNA haplogroup. M-P256 is a ...

*Glycogenin-1

... from base pair 148,709,194 to base pair 148,745,455. Transcription of human glycogenin-1 is mainly initiated at 80bp and 86bp ... The GYG1 gene is located on the long arm of the chromosome 3, between positions 24 and 25, ... In humans, two isoforms of glycogenin can be expressed: glycogenin-1, with a molecular weight of 37 kDa and codified by GYG1 ... In the human body, the two main tissues of glycogen accumulation are liver and skeletal muscle. The concentration of this ...

*PRP36

The human PRR36 gene consists of 7 exons and is 5723 base pairs long. PRR36 is located on the short arm of human chromosome 19 ... both on human chromosome 19 and other chromosomes, tend to more frequently produce proteins that are involved in protein- ... The gene spans between base pair numbers 7868719 and 7874441 on chromosome 19 and is located between two other genes-LYPLA2P2, ... DUF4596 on human PRP36 is 47 amino acids long, has an isoelectric point of 3.77, and is almost completely conserved across ...

*Nucleic acid

May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur. ... In RNA, base-pair sequencing provides for manufacturing new proteins that determine the frames and parts and most chemical ... International Human Genome Sequencing Consortium (2001). "Initial sequencing and analysis of the human genome" (PDF). Nature. ... Within cells DNA is organized into long structures called chromosomes. During cell division these chromosomes are duplicated in ...

*TENM3

Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Ben-Zur, T.; Feige, E.; Motro, B.; Wides, R. (2000). "The Mammalian Odz Gene Family: Homologs of a Drosophila Pair-Rule Gene ...
Stargardts disease (also called Stargardts macular degeneration or Stargardts macular dystrophy) is a rare inherited eye condition which affects the central area of the retina called the macula. It is also sometimes called fundus flavimaculatus. It affects about 1 in 10,000 people. Stargardts disease is sometimes called a juvenile macular dystrophy since it tends to first
As such, I feel absolutely fine. Its only while reading, I have to bring the book very close to my eyes. Even on the computer, I sit very close (8 or 9 inches from the screen). I also have problem recognizing people from a distance. Otherwise I drive regularly, but during night I find it to be problematic. But guess what, I am not 100% sure if I do have Stargardts Disease. When I was 18, I was told by a doctor that I had Stargardts Disease. What are the tests that I need to get done to confirm this, and how severe it is? Hoping that someone will help me out here.. [Directors Note: Please see this article and accompanying links for information about Stargardt disease.] Impact On Your Life ...
immune Uncategorized Rabbit Polyclonal to Integrin beta1, Tariquidar Oligodendroglial tumors form a definite subgroup of gliomas, seen as a an improved response to treatment and long term overall survival. marks ICIV). Gliomas exhibiting oligodendroglial features consist of oligodendrogliomas (WHO quality II) and anaplastic oligodendrogliomas (WHO quality III) aswell as oligoastrocytomas (WHO quality II), anaplastic oligoastrocytomas (WHO quality III) and glioblastomas with an oligodendroglial component (GBMO, WHO quality IV) [1]. Oligodendroglial tumors take into account 15-20% of most gliomas [2,3]. The recognition from the genes targeted by full 1p/19q co-deletion, a quality of oligodendrogliomas, is a long-standing Tariquidar search. Combined lack of entire chromosome hands 1p and 19q may be the most frequently recognized hereditary imbalance in oligodendroglial tumors, happening in 60-90% of oligodendrogliomas and 30-50% of oligoastrocytomas while they may be rarely within GBMO [4-6]. The ...
TY - JOUR. T1 - Chromosome 1p loss evaluation in anaplastic oligodendrogliomas. AU - Idbaih, Ahmed. AU - Kouwenhoven, Mathilde. AU - Jeuken, Judith. AU - Carpentier, Catherine. AU - Gorlia, Thierry. AU - Kros, Johan M. AU - French, Pim. AU - Teepen, Johannes L. AU - Delattre, Olivier. AU - Delattre, Jean-Yves. AU - van den Bent, Martin. AU - Hoang-Xuan, Khê. PY - 2008/8. Y1 - 2008/8. N2 - The chromosome (chr) 1p deletion is a favorable biomarker in oligodendroglial tumors and is even more powerful a marker when combined with chr 19q loss. As a result, the 1p deletion is taken into account more and more in clinical trials and the management of patients. However, the laboratory technique implemented for detection of this biomarker has been a topic of debate. To illustrate the usefulness of evaluating multiple loci, we here report two anaplastic oligodendrogliomas that were investigated using fluorescent in situ hybridization (FISH) and bacterial artificial chromosome (BAC)-array-based comparative ...
La Barcelona Macula Foundation (BMF) se suma, un any més, al Dia Mundial de les Malalties Minoritàries, que té com a principals objectius sensibilitzar, formar i informar a la població sobre aquestes patologies i posicionar-les com un dels principals problemes de salud pública.
XS(XS_Net__Pcap_file); /* prototype to pass -Wmissing-prototypes */ XS(XS_Net__Pcap_file) { dXSARGS; if (items != 1) Perl_croak(aTHX_ Usage: Net::Pcap::file(p)); { pcap_t * p; FILE * RETVAL; if (sv_derived_from(ST(0), pcap_tPtr)) { IV tmp = SvIV((SV*)SvRV(ST(0))); p = (pcap_t *) tmp; } else croak(p is not of type pcap_tPtr); RETVAL = pcap_file(p); ST(0) = sv_newmortal(); { GV *gv = newGVgen(Net::Pcap); if ( do_open(gv, ,&, 2, FALSE, 0, 0, RETVAL) ) sv_setsv(ST(0), sv_bless(newRV((SV*)gv), gv_stashpv(Net::Pcap +,1))); else ST(0) = &PL_sv_undef; } } XSRETURN(1 ...
Stargardts disease (STGD) and Retinitis Pigmentosa (RP) are inherited retinal degenerations that may be affected, in opposite way, by diet. Dietary profile was assessed in 24 patients with STGD and in 56 patients with RP. We documented in only 6 out of 24 (25 %) STGD patients a daily intake of vitamin A within the recommended range while 14/24 (58.3 %) reported a high daily intake and 4/24 (16.7 %) showed a low daily intake. With regard to RP, 4/56 (7.1 %) reported to be within the recommended range, 37/56 (66.1 %) reported high daily intake and 15/56 (26.8 %) showed low daily intake of vitamin A. Interestingly, STGD patients with low vitamin A intake (|600 µg RAE/day) showed significantly better visual acuity with respect to those introducing higher intake of vitamin A. The present study suggests insuitable nutrient intakes among patients with STGD and RP, especially for daily intake of vitamin A. The results may be used to provide tailored nutritional interventions in these patients.
Anaplastic oligodendroglial tumors are rare neoplasms with no standard approach to treatment. We sought to determine patterns of treatment delivered over time and identify clinical correlates of specific strategies using an international retrospective cohort of 1013 patients diagnosed from 19812007. Prior to 1990, most patients received radiotherapy (RT) alone as initial postoperative treatment. After 1990, approximately 50 of patients received both RT and chemotherapy (CT) sequentially and/or concurrently. Treatment with RT alone became significantly less common (67 in 19801984 vs 5 in 20052007, P | .0001). CT alone was more frequently administered in later years (0 in 19801984 vs 38 in 20052007; P | .0001), especially in patients with 1p19q codeleted tumors (57 of codeleted vs 4 with no deletion in 20052007; P | .0001). Temozolomide replaced the combination of procarbazine, lomustine, and vincristine (PCV) among patients who received CT alone or with RT (87 vs 2 in 20052007). In the most recent time
Clinical management of grade III oligodendroglioma G Simonetti, P Gaviani, A Botturi, A Innocenti, E Lamperti, A Silvani Neurooncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Abstract: Oligodendrogliomas represent the third most common type of glioma, comprising 4%–15% of all gliomas and can be classified by degree of malignancy into grade II and grade III, according to WHO classification. Only 30% of oligodendroglial tumors have anaplastic characteristics. Anaplastic oligodendroglioma (AO) is often localized as a single lesion in the white matter and in the cortex, rarely in brainstem or spinal cord. The management of AO is deeply changed in the recent years. Maximal safe surgical resection followed by radiotherapy (RT) was considered as the standard of care since paramount findings regarding molecular aspects, in particular co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19, revealed that these subsets of AO, benefit in terms of overall
Is anyone familiar with this type of brain cancer called Anaplastic oligodendroglioma? I tried to research it and either found technical info or very
Another name for Oligodendroglioma is Oligodendroglioma. The cause of oligodendroglioma is unknown, but genetics may play a role. Genes control the functions ...
Description: Oligodendroglioma - Pipeline Review, H1 2017, provides an overview of the Oligodendroglioma (Oncology) pipeline landscape. Oligodendroglioma i
Oligodendrogliomas are gliomas that arise in the cerebral hemispheres of young and middle-aged adults. The tumors have a propensity to arise in the gray matter or superficial white matter of the frontal lobes, but oligodendrogliomas may also arise in other regions of the central nervous system.
Definition : Molecular assay reagents intended to identify mutations in the ATP-binding cassette, subfamily A (ABC1), member 4 (ABCA4) gene, located at chromosome 1p22.1-p21, which encodes for a membrane-associated protein that is a member ATP-binding cassette (ABC) transporter. ABC proteins transport various molecules across extra- and intracellular membranes. Mutations at this locus have been identified in patients with retinitis pigmentosa type 19 (RP19), Stargardts disease, and age-related macular degeneration.. Entry Terms : "ABCA4 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ABCA4". UMDC code : 24275 ...
A rare, slow-growing tumor that begins in the oligodendrocytes (brain cells that nourish and support nerve cells). Also called an oligodendroglial tumor.
OPINION STATEMENT: Anaplastic oligodendroglial tumors have gained increasing interest with the emerging role of molecular markers and systemic chemotherapy during the past years. The long-term results of two landmark trials, RTOG 9402 and EORTC 26961, have resulted in a reconsideration of the appropriate therapeutic approaches for patients with these tumors. Both trials indicate that patients whose tumors harbor a 1p/19q co-deletion benefit particularly from the addition of procarbazine/lomustine (CCNU)/vincristine (PCV) chemotherapy to radiation therapy (RT). The median survival of patients with co-deleted tumors treated within the RTOG trial with PCV before irradiation was 14.7 years compared with 7.3 years of patients who received RT alone. Median overall survival has not been reached in the RT plus PCV arm of the EORTC trial, but a similar difference can be anticipated after a follow-up of more than 12 years. In contrast, no such benefit was observed for patients with tumors lacking 1p/19q ...
Mixed gliomas, such as oligoastrocytomas (OA), anaplastic oligoastrocytomas, and glioblastomas (GBMs) with an oligodendroglial component (GBMO) are defined as tumors composed of a mixture of two distinct neoplastic cell types, astrocytic and oligodendroglial. Recently, mutations ATRX and TP53, and codeletion of 1p/19q are shown to be genetic hallmarks of astrocytic and oligodendroglial tumors, respectively. Subsequent molecular analyses of mixed gliomas preferred the reclassification to either oligodendroglioma or astrocytoma. This study was designed to apply genetically integrated diagnostic criteria to mixed gliomas and determine usefulness and prognostic value of new classification in Korean patients ...
OBJECTIVES: I. Compare survival and time to first progression in patients with anaplastic oligodendroglioma treated with radiotherapy with or without adjuvant procarbazine, lomustine, and vincristine (PCV) following surgical resection. II. Investigate the effect of PCV on quality of life and neurologic function in these patients. III. Determine the toxicity of PCV in these patients. IV. Correlate chromosomal lesions (1p and/or 19q, 9p, p53 loss and mutation, amplification of chromosome 7, or loss of chromosome 10) with progression-free and overall survival in patients treated with these regimens.. OUTLINE: This is a randomized, multicenter study. Patients are stratified according to age, extent of resection, performance status, prior surgery, and participating center. Patients are randomized to one of two treatment arms. Arm I: Within 4-6 weeks after surgery, patients undergo radiotherapy over 7 weeks to the residual tumor volume. Arm II: Patients undergo radiotherapy as in arm I, then begin ...
Forms of leukemia can be found on six different chromosomes. Acute leukemias can be found on chromosomes 1, 2, and 13, T-Cell developmental leukemia is found on chromosomes 3 and X, and the cause of myelogenous leukemia is in a protein coded for in chromosome 11 at 11p11.9. Chromosome 11 contains 134 million bases. Chromosome 11 has been identified with 151 diseases. Only chromosomes 1, 2, and X contain more currently identified diseases. Chromosome 11 has the most cancerous conditions of all of the chromosomes associated with it ...
BACKGROUND: Because of their rarity, outcomes regarding spinal atypical meningiomas (AMs) remain unclear. OBJECTIVE: To describe the recurrence rate and postoperative outcomes after resection of spinal AMs, and to discuss an appropriate resection strategy and adjuvant therapy for spinal AMs. METHODS: Data from all patients who presented with spinal AMs to 2 tertiary referral centers…
Zinc is an essential metal for all eukaryotes (ZIP) superfamily of metal ion transporters the human gene within chromosomal band 1q21 within the mouse EDC [epidermal differentiation complex], on mouse chromosome 3 similar to the demonstrated functions of human ZIP1 and ZIP2, zip1 mRNA is abundant in many mouse tissues whereas zip2 and zip3 mRNAs are very rare or moderately rare Slc39a1 pseudogene member 1. The gene encoding SLC41A1 is found on chromosome 1 (1q31-32) and the protein coding sequence and may serve as a "gatekeeper" for apart from X inactivation or X recessive putative transmembrane responsible for this Slc39a observation is found on 10 exons (NCBI Gene 194642...to PMID: 11438993) homologous to the integral membrane part of the bacterial MgtE protein family and of a wide range of conditions, includes two distinct domains and R and S allele frequency disequilibrium. According to function locus 1p21-p13.3 translocation encoded by the MK3 gene (OMIM 176263) encoding 3 human cDNA ...
LCE1A, 0.4 ml. LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1.
Global Markets Directs, Oligodendroglioma - Pipeline Review, H2 2012, provides an overview of the indications therapeutic pipeline. This report provides information on the therapeutic development for Oligodendroglioma, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Oligodendroglioma. Oligodendroglioma - Pipeline Review, Half Year is built using data and information sourced from Global Markets Directs proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together by Global Markets Directs team. Note*: Certain sections in the report may be removed or altered based on the availability and relevance of data for the indicated disease.
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Genes are carried on chromosomes and the two that are important in PKD are chromosomes 16 and 4. I am not going to deal with the specifics of inheritance - this is best explained on the PKD Foundation web page. The relevant facts are that: 85% people…
These two tumour types comprise approximately one quarter of all gliomas with astrocytomas taking up the other three quarters.. What is the prognosis of patients with oligodendrogliomas? Oligodendrogliomas tend to be diagnosed more often than ependemyomas. The prognosis of patients with oliogodendrogliomas is better overall than that of patients with astrocytomas, however it worsens if the tumour progresses to the anaplastic stage. The evolution of oligodendrogliomas is similar to that of astrocytomas. If the tumour is caught in time, and treated, via means of surgery, the patient may be able to live up to ten years, and have a median survival rate of 5 years.. What do oligodendrogliomas appear like on the macroscopic and microscopic level? ...
Loss of heterozygosity (LOH) of the short arm of chromosome 1 (1p) and the long arm of chromosome 19 (19q) is an early event in oligodendroglioma that occurs in up to 80% of patients and is associated with therapeutic sensitivity and longer overall survival. The purpose of this study was to confirm the reported association in patients at this centre, then identify and characterise genes that were differentially expressed and may function as a tumour suppressor or contribute to therapeutic sensitivity in oligodendroglioma. A clinical review of oligodendroglioma patients treated at Royal North Shore and North Shore Private Hospitals between 1990 and 2009 confirmed the association between LOH 1p/19q and longer overall survival in WHO grade III oligodendroglioma patients. Younger age and lower tumour grade were additionally confirmed as positive prognostic factors. Exon microarrays were used to identify changes in gene expression between oligodendrogliomas with and without LOH 1p/19q. Seventeen ...
... are diffusely growing glioma, that belong to the oligodendroglial tumours. These rare brain tumours are also called „mixed glioma", since they present with an appearance of two cell origin, astrocytoma and oligodendroglioma. Please note that the following threads of our forum are currently only available in German language. ...
The patient went on to have surgery and histology revealed the lesion to be an anaplastic oligoastrocytoma. Note: This case predates the recent (2016) revision WHO classification of CNS tumours, and thus molecular markers (IDH mutation and 1p19q...
SUAREZ, Julio César et al. Gliomas cerebrales de bajo grado en el adulto. Rev. argent. neurocir. [online]. 2008, vol.22, n.1. ISSN 1850-1532.. Objective. Gliomas reviewed in this article are grade II tumors according to the World Health Organization (WHO), that include: fibrillary and protoplasmic astrocytomas, oligodendrogliomas and oligoastrocytomas or mix tumors (1,2,3).Low grade astrocytomas constitute 15% of brain tumors in adults, while low grade oligodendrogliomas represent 4% (2,4). We present our experience with this type of tumor operated on between January 1972 and December 2006. Material and Method. The clinical reports of 25 patients with this type of tumor were analyzed, 15 women and 10 men, which represent 15,6% of hemispheric brain gliomas in adults in our series. Results. Fifteen were fibrillary astrocytomas, 8 oligodendrogliomas and 2 oligoastrocytomas. Treatment depended on tumor localization and size. Surgery and radiotherapy were the therapeutic modalities most frequently ...
This case was histologically proven as an oligoastrocytoma (NOS) - WHO Grade II. NOTE: This case predates the 2016 WHO classification of CNS tumor revision. As no 1p19q co-deletion status is available a formal diagnosis cannot be reached and the...
Stargardts disease (STGD), also known as fundus flavimaculatus (FFM), is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbor the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM ...
Our primary finding for linkage to diabetic nephropathy is on chromosome 19q (triangle MLS = 3.1), with a secondary peak on chromosome 2q (triangle MLS = 2.1). The former, but not the latter, exceeds the Lander and Kruglyak criterion of triangle MLS ≥2.6 (17,18) for suggestive linkage. For reference, triangle MLS values of 3.3, 2.3, and 1.7 correspond to unadjusted P values of 0.0001, 0.001, and 0.005, respectively.. Stratification of DSPs based on proteinuria or ESRD suggested four tertiary peaks: linkage with ESRD on chromosome 1q (MLS = 1.8), linkage with proteinuria on chromosome 20p (MLS = 2.8), and linkage with two separate regions on chromosome 3q, one for proteinuria (MLS = 1.5) and another, 58 cM away, for ESRD (MLS = 1.1). We also found two chromosomal regions linked with type 1 diabetes. The most striking, not surprisingly, was on chromosome 6p (MLS = 9.2, 52 cM), confirming the well-established linkage with HLA. We also replicated IDDM15 on chromosome 6q (MLS = 3.1, 142 cM) ...
The brain is part of the central nervous system (CNS). The CNS also includes the spinal cord. A tumor is an abnormal growth of tissue. An oligodendroglioma is a type of CNS tumor called a glioma.
Learn more about Oligodendroglioma symptoms, diagnosis, and treatments from experts at Boston Childrens, ranked best Childrens Hospital by US News.
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Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of the identity and function of the genes affected by these alterations is limited. We performed exome sequencing on a discovery set of 16 oligodendrogliomas with 1p/19q co-deletion to identify new molecular features at base-pair resolution. As anticipated, there was a high rate of IDH mutations: all cases had mutations in either IDH1 (14/16) or IDH2 (2/16). In addition, we discovered somatic mutations and insertions/deletions in the CIC gene on chromosome 19q13.2 in 13/16 tumours. These discovery set mutations were validated by deep sequencing of 13 additional tumours, which revealed seven others with CIC mutations, thus bringing the overall mutation rate in oligodendrogliomas in this study to 20/29 (69%). In contrast, deep sequencing of astrocytomas and oligoastrocytomas without 1p/19q loss revealed ...
[106 Pages Report] Check for Discount on Global Anaplastic Oligoastrocytoma Drug Market Research Report 2017 report by QYResearch Group. In this report, the global Anaplastic Oligoastrocytoma Drug market is...
The number of clinical, histopathologic, and molecular prognostic markers to estimate the outcome of patients with various types of gliomas, including low-grade gliomas, is steadily increasing (2, 32). In contrast, few studies have tried to distinguish markers that characterize the natural course of disease from markers that predict PFS and OS in response to specific therapeutic measures. The observation until first PD of surgically treated patients followed without adjuvant radiotherapy, or chemotherapy is the only way to determine whether a marker predicts outcome in the absence of adjuvant DNA-damaging treatment and is thus a prognostic marker independent of radiotherapy and chemotherapy. For instance, 1p/19q deletion is strongly predictive for prolonged PFS and OS in patients with anaplastic oligodendroglial tumors (WHO grade III) who are treated with radiotherapy or radiotherapy plus nitrosourea-based chemotherapy or temozolomide alone (14, 33, 34). Yet, 1p/19q deletion did not predict PFS ...
Abstract: A previous linkage study provided evidence for a prostate cancer-susceptibility locus at 1q24-25. Subsequent reports in additional collections of families have yielded conflicting results. In addition, evidence for locus heterogeneity has been provided by the identification of other putative hereditary prostate cancer loci on Xq27-28, 1q42-43, and 1p36. The present study describes a combined analysis for six markers in the 1q24-25 region in 772 families affected by hereditary prostate cancer and ascertained by the members of the International Consortium for Prostate Cancer Genetics (ICPCG) from North America, Australia, Finland, Norway, Sweden, and the United Kingdom. Overall, there was some evidence for linkage, with a peak parametric multipoint LOD score assuming heterogeneity (HLOD) of 1.40 (P=.01) at D1S212. The estimated proportion of families (alpha) linked to the locus was.06 (1-LOD support interval.01-.12). This evidence was not observed by a nonparametric approach, presumably ...
Do you look a bit like your brothers and sisters? Do you look a bit like your parents? The similarities are because, unless you were adopted, you and the other members of your family have genetic material in common.. Some characteristics, or traits, result from interactions with the environment, others are determined from the genetic material in your chromosomes. Chromosomes are the keepers of the genetic material in eukaryotic cells. An organism has the same chromosomes for its entire life. The chromosomes are located within each cell nucleus. They provide the directions for how the cell is supposed to function and determine some characteristics about how the individual looks. Each chromosome contains a very complex molecule called DNA. The DNA molecule contains genes, which direct how an organisms body is built and maintained.. Heredity is the passage of DNA from the chromosomes of one generation to the chromosomes of the next. Chromosomes in your body are in pairs. One chromosome of each ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
Hi - I am new to this site and ama hoping to find some help here. My fiance had a seizure in June, which led to us finding out that he had this brain tumor. It was removed two days later and he just finished the 6 week radiation treatment along with the Chemo (oral Temador) at the same time. He is now 1 1/2 weeks into his one month off before starting the 5/28 day regiment. He has also been on Dilantin for the seizures since he first went in to the hospital afte having the first seizure. He decided that he did not need the medicine (or so he thought) any longer and had stopped taking the Dilantin for 4 days which then caused another seizure. After realizing the importance of staying on this medication and getting back on it now it seems that he is very nausauted and exremely tired now. He was not while having the radiation treatments or taking the Temador. Are the side effect worsened during the month off of treaments? Just looking to find answers as to why he is feeling so down now..... Any ...
The Chromosome Theory of Heredity Traits are determined by pairs of genes (alleles) A pair of genes are located on a pair of chromosomes, one gene for each trait on each chromosome of a pair. In meiosis, the chromosomes and therefore the genes, segregate independently - one of each pair to a gamete In fertilization, gametes unite resulting in a fertilized egg that has two genes for each trait carried on pairs of chromosomes.
Chromosomes are structures within cells that carry DNA, RNA, and proteins. Each chromosome is DNA tightly wound around proteins that support its structure. Chromosomes are not visible in the cell unless the cell is dividing and much of the knowledge concerning chromosomes is learned by observing cells during division. In humans, chromosomes are classified in two ways:
Description of disease Banding of chromosomes. Treatment Banding of chromosomes. Symptoms and causes Banding of chromosomes Prophylaxis Banding of chromosomes
Chromosome 1 is the largest of the 23 chromosomes, containing a greater number of nucleotides at its 85 loci than all other chromosomes. There are an estimated 4220 genes on chromosome 1, as discovered during the Human Genome Project around twenty years ago.
By siteadmin. Maytte Bustillios was given two years to live after the discovery of a cancerous tumor in her brain (Oligodendroglioma). Now, seven years and three craniotomies later, she talks to Shelley Berman about her fitness routine, mothering a child with a heart problem and dealing with the daily limitations of disability. With an analysis of … Continued ...
Published on 1/1/2014. Mardaryev AN, Gdula MR, Yarker JL, Emelianov VU, Emelianov VN, Poterlowicz K, Sharov AA, Sharova TY, Scarpa JA, Joffe B, Solovei I, Chambon P, Botchkarev VA, Fessing MY. p63 and Brg1 control developmentally regulated higher-order chromatin remodelling at the epidermal differentiation complex locus in epidermal progenitor cells. Development. 2014 Jan; 141(1):101-11. PMID: 24346698.. Read at: PubMed ...
Grant] United States / NCRR NIH HHS / RR / P41 RR013218-098542; United States / NCRR NIH HHS / RR / U41 RR019703; United States / NIGMS NIH HHS / GM / R01 GM074068; United States / NCRR NIH HHS / RR / U41 RR019703-03S1; United States / NIBIB NIH HHS / EB / P41 EB015898; United States / NLM NIH HHS / LM / R01 LM007861; United States / NCRR NIH HHS / RR / P41 RR013218-02; United States / NCRR NIH HHS / RR / RR019703-03S1; United States / NCRR NIH HHS / RR / P41 RR013218; United States / NCRR NIH HHS / RR / RR013218-108434; United States / NCRR NIH HHS / RR / RR013218-098542; United States / NCI NIH HHS / CA / P01 CA067165; United States / NCRR NIH HHS / RR / P41 RR013218- ...
In our bodys cells, the SERPINB6 molecule, serpin peptidase inhibitor, clade B (ovalbumin), member 6, is one of our human genes found on chromosome 6 at the 6p25.2 position
Chromosome 18Q- or Distal 18q affects the long arm of the chromosome and means there is a deletion of information on the long arm of the 18th Chromosome.
Complete information for NBPF22P gene (Pseudogene), NBPF Member 22, Pseudogene, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
To cause genomic instability particularly at chromosome loci that are intrinsically difficult to replicate because of the complexity of secondary structures or
The chromosomes The chromosomes are threadlike bodies present in the cells nuclei, and they represent the genetic material of the living organisms , They are
For the first time, the WHO classification of brain tumors has introduced molecular parameters in the diagnosis of brain tumors. Together with embryonal tumors, the diffuse gliomas have suffered significant changes in diagnosis, prognosis, and response to treatment. A new concept of
Lone chromosomes stranded outside the nucleus where their fellow chromosomes reside are thought to be the Robinson Crusoes of the intracellular world.
I created a sam file by aligning reads, using bwa. I want to create a new sam file that contains all reads except ones that are on a particular chromosome or have an alternative alignment on that chromosome.. How can I do it?. ...
Reference.com says that the function of chromosomes is to carry hereditary information. Chromosomes are located in the nucleus of a cell, and when a cell divides, so do the...
Sex is determined by the presence or absence of certain chromosomes, and it differs between humans (mammals) and other members of the animal kingdom.
Chromosome: X (1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y) *pink background: your gene is a core gene. , green backgroup: your gene is not a core gene. , yellow background: core genes in the chromosomoe. ...
Chromosome: X (1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y) *pink background: your gene is a core gene. , green backgroup: your gene is not a core gene. , yellow background: core genes in the chromosomoe. ...
APITD1 antibody (apoptosis-inducing, TAF9-like domain 1) for WB. Anti-APITD1 pAb (GTX32452) is tested in Human samples. 100% Ab-Assurance.
Chromosome : Genes, Leukemias, Solid Tumors, and Cancer-Prone Diseases located on Chromosome reviewed and published in the Atlas of Genetics and Cytogenetics in Oncology and H aematology
Chromosome : Genes, Leukemias, Solid Tumors, and Cancer-Prone Diseases located on Chromosome reviewed and published in the Atlas of Genetics and Cytogenetics in Oncology and H aematology
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Hi - sorry to hear of your troubles. I am an oligo survivor. Ask your doctor about Temador and the if you have the 1p 19q chromosome deletion? I hate to tell you but because of the make up of this type of tumour they will never get it all out, Temador however has been shown to be highly effective in treating it, especially if you have the chromosome deletion. Given where my tumour was, my doctors only operated when they had to - I started to have massive seizures. Even then most of the tumour was dealt with using Temador. They were hesitant to use radiation and only will resort to it if they have to.. If they put you on Temador, theyll give you anti-nausea medicine, which is creates other problems, mainly really bad constipation. I was lucky in that the nausea was not bad, but I did lose most of my sense of taste though and that significantly reduced my appetite. Both came back after chemo was over. During my course of chemo, I increased my water and fiber intake. That helped with the side ...
Oligodendrogliomas are the second most common malignant brain tumor in adults and exhibit characteristic losses of chromosomes 1p and 19q. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven tumors. Among other changes, we found that the CIC gene (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six cases and that the FUBP1 gene [encoding far-upstream element (FUSE) binding protein] on chromosome 1p was somatically mutated in two tumors. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes ...
Differentiating low-grade astrocytomas from low-grade oligodendrogliomas preoperatively with use of imaging is important for several reasons. First, these two tumor types are well-defined, clinicopathologic entities with distinct biologic and prognostic characteristics for which distinction based on histopathologic evaluation, the current reference standard, can be difficult and not without error (2, 3, 11). The histopathologic evaluation of low-grade glioma is challenged by a mixed cellular component in a given tumor that can lead to subjective criteria for determining the cell of origin, inherent sampling error associated with a surgical tissue specimen, and lack of specific tumor markers. Preoperative anatomic imaging already plays a complementary role by providing information on tumor location, surgical resectablity, satellite focus of tumor, and reactive changes in the adjacent brain-all of which are important factors influencing treatment and outcome, but which cannot be assessed directly ...
Marenholz I, Bauerfeind A, Esparza-Gordillo J, Kerscher T, Granell R, Nickel R, Lau S, Henderson J, and Lee YA. The eczema risk variant on chromosome 11q13 (rs7927894) in the population-based ALSPAC cohort: a novel susceptibility factor for asthma and hay fever. Hum Mol Genet 2011: 20, 2443-2449.. Marenholz I, Rivera VA, Esparza-Gordillo J, Bauerfeind A, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, and Lee YA. Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema. J Invest Dermatol 2011: 131, 1644-1649.. Moffatt MF, Gut IG, Demenais F, Strachan DP, Bouzigon E, Heath S, von Mutius E, Farrall M, Lathrop M, Cookson WO, and GABRIEL consortium. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010: 363, 1211-1221.. Esparza-Gordillo J, Marenholz I, and Lee YA. Genome-wide approaches to the etiology of eczema. Curr Opin Allergy Clin Immunol 2010: 10, ...
Grant] United States / NINDS NIH HHS / NS / R01 NS053468; United States / NINDS NIH HHS / NS / NS34608; United States / NINDS NIH HHS / NS / R01 NS053468-03; United States / NINDS NIH HHS / NS / NS044687-26; United States / NINDS NIH HHS / NS / R01 NS034608; United States / NCI NIH HHS / CA / CA137488; United States / NINDS NIH HHS / NS / R37 NS044687-26; United States / NINDS NIH HHS / NS / R37 NS044687; United States / NINDS NIH HHS / NS / NS053468-03; United States / NINDS NIH HHS / NS / NS44687; United States / NCI NIH HHS / CA / R01 CA137488-15; United States / NCI NIH HHS / CA / CA137488-15; United States / NINDS NIH HHS / NS / R01 NS044687; United States / NCI NIH HHS / CA / R01 ...
... are cell structures that carry genetic material (DNA), or genes. They are a part of every cell in the body. Humans have 46 chromosomes (23 pairs). Half of a persons chromosomes come from the mother and half from the father. One of the 23 pairs determines a persons sex. The sex chromosomes are called X and Y. For a child to be female, she must inherit an X chromosome from each parent
View Notes - 3_Chromosomes from BISC 120Lg at USC. 2) Inheritance of chromosomes and DNA 15.1 - 15.3 and 16.1 1 We now know that Mendels hereditary factors are located on chromosomes Fig.
Canine chromosomes contains more mathematical germinal cell possibilities than the human chromosome! Amazing! Genetics depend on genes that contain DNA, strung into a chromosome that...
As weve seen in previous posts, cancer is caused by some sort of error in the DNA of the cancer. Human DNA comes in 46 long strings called chromosomes and it sometimes breaks, but luckily the break is usually repaired. However, sometimes the repair process gets it wrong - for example two DNA ends are joined together that arent meant…
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs. Chromosome 6 spans about 171 million base pairs (the building blocks of DNA) and represents between 5.5 percent and 6 percent of the total DNA in cells ...
Answer questions correctly. (1 A sexually producing organism has 12 chromosomes in each somatic cell, how many chromosomes would you find in the organisms gametes (sperm/egg)? (2) The # of chromosomes in the human white blood.
Linkage of genomewide scan: LOD=1.98, MLS=2.829, NPL=3 with ...... Linkage of genomewide scan: LOD=1.98, MLS=2.829, NPL=3 with marker D17S799; Family-specific linkage of fine mapping: LOD=3.4, NPLall Zb >12.0 with marker D17S1876;LOD=3.5, NPLall Zb >12.0 with marker D17S678;LOD=3.9, NPLall Zb >12.0 with marker D17S1881;LOD=3.8, NPLall Zb >12.0 with marker D17S1844;LOD=3.7, NPLall Zb >12.0 with marker D17S1791; Linkage of fine mapping in combined families: LOD=2.5, NPLall Zb >12.0 with marker D17S1876 More... ...
I recently suffered a miscarriage. Genetic studies were done indicating that an extra chromosome was present on the #22 chromosome. What does this chromosome determine ...
Define chromosome: any of the rod-shaped or threadlike DNA-containing structures of cellular organisms that are located in… - chromosome in a sentence
Like a cars front and back bumpers, your cells chromosomes are capped by telomeres that protect this genetic material against deterioration. Still, after enough replications, a chromosomes telomeres break down and once ...
Microscopic visualization of chromosomes. Chromosomes are linear bodies of the cell nucleus of eukaryotic organisms that contain most or all of the genes of the organism. - Stock Image F002/1156
If you are curious about tiny structures present within the cell, you have to check amazing facts about chromosomes. Chromosomes are a thread like structures
Mouse polyclonal antibody raised against a full-length human BSND protein. BSND (NP_476517.1, 1 a.a. ~ 320 a.a) full-length human protein. (H00007809-B01P) - Products - Abnova
talk , contribs) (New page: This is a new project for which we have one position open for someone interested in constructing totally programmable human chromosomes.) ...
The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers and educators in the field of genetics. Our members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level.. Online ISSN: 1943-2631. ...
Chromosome 18 Ring information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Learn about some of the changes in the structure or number of copies of chromosome 16, plus how these can cause problems with health and development.
Find right answers right now! How to answer this? 8X = 56 chromosomes. X=? 2n =? and n = ? More questions about Science & Mathematics, how to
Looking for the definition of chromosomes? We break down all the fertility terms you need to know. Minus the crazy medical jargon, of course.
Study Flashcards On DNA and Chromosomes at Cram.com. Quickly memorize the terms, phrases and much more. Cram.com makes it easy to get the grade you want!
The National Institutes of Health explains that having more or fewer chromosomes than the typical number - 46 - can cause birth defects or miscarriage. It can also be a factor in conditions that...
Get an answer for What effect might having too many or too few chromosomes have on an organism? and find homework help for other Science questions at eNotes
Meeting the Egg 23 chromosomes in an egg cell 23 chromosomes in a sperm cel 46 chromosomes in a human Meeting the Egg The Journey to the Womb When an egg
Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. In Swedish families with hereditary prostate cancer, linkage to the HPC1 (ital) locus on chromosome 1q24-25 is restricted to families with early-onset prostate cancer
The present study clearly showed that the mean SUV T/N ratio obtained with 11C-methionine PET was significantly higher in OT without 1p/19q deletion than in those with this chromosomal aberration. The T/N ratio cut-off values of 2.54 for grade II tumours and 3.63 for grade III tumours will be important in daily clinical practice, in combination with other imaging modalities to predict tumour grade. In tumours categorised as the same histological type and grade, the T/N ratio was significantly different according to the presence or absence of this genetic alteration. Generally, 1p/19q deletion is found in 60-90% of OT,3 and the presence of these deletions is correlated with good chemosensitivity and longer survival, especially in grade III tumours.10 Although it is reported that 1p/19q deletion is exclusively associated with p53 overexpression or unmethylated MGMT,8 ,9 few biological features are linked to this chromosomal aberration. The lower rate of IDH1 mutation in anaplastic OT without ...
A microfluorimetric method has been developed for determination of DNA content in individual human chromosomes. The method is based on a preliminary identification of chromosomes with Hoechst 33258 followed by staining of the chromosomes with Feulgen reaction by using Schiffs reagent type ethidium bromide-SO2 and then by measuring the fluorescence intensity of the chromosomes by using an image analyzer. The method allows determining the DNA content of individual chromosomes with an accuracy up to 4.5 fg. The DNA content of individual human chromosomes and their p-and q-arms, as well as homologous chromosomes, were measured by using the developed method. It has been shown that the DNA content in chromosomes of the normal human karyotype is unstable and can fluctuate in some chromosomes within 35-40 fg.

A novel quantitative trait locus, qCL1, involved in semi-dwarfism derived from Japanese rice cultivar Nipponbare<...A novel quantitative trait locus, qCL1, involved in semi-dwarfism derived from Japanese rice cultivar Nipponbare<...

A QTL located on the short arm of chromosome 1, qCL1, was commonly detected near the simple sequence repeat (SSR) marker RM8068 ... A QTL located on the short arm of chromosome 1, qCL1, was commonly detected near the simple sequence repeat (SSR) marker RM8068 ... A QTL located on the short arm of chromosome 1, qCL1, was commonly detected near the simple sequence repeat (SSR) marker RM8068 ... A QTL located on the short arm of chromosome 1, qCL1, was commonly detected near the simple sequence repeat (SSR) marker RM8068 ...
more infohttps://okayama.pure.elsevier.com/en/publications/a-novel-quantitative-trait-locus-qcl1-involved-in-semi-dwarfism-d

Molecular shifts in sex determination | Biology LettersMolecular shifts in sex determination | Biology Letters

2010 Non-homologous sex chromosomes of birds and snakes share repetitive sequences. Chromosome Res. 18, 787-800. (doi:10.1007/ ... 1990 A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346 ... Among 34 non-avian reptiles, a convergently evolved pair of amino acids encoded by sequence within exon 2 near the DM-binding ... Staurotypus triporcatus, a turtle with XY sex chromosomes homologous to chicken ZW sex chromosomes [29], exhibits an S54-S57 ...
more infohttp://rsbl.royalsocietypublishing.org/content/10/12/20140809

Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjectsLonger leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

... in humans spanning over the last 2 to 15 kilobase pairs of the chromosome. Due to the end-replication problem, telomeres ... Telomeres are the outermost parts of linear chromosomes. They consist of tandemly repeated non-coding short nucleotide ... 1. Telomeres and the brain: an investigation into the relationships of leukocyte telomere length with functional and structural ...
more infohttp://umu.diva-portal.org/smash/record.jsf?pid=diva2:516681

Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex...Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex...

Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ... Download ppt "Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 ... Alu Human Polymorphism 2 How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ... How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex chromosomes What is the ...
more infohttp://slideplayer.com/slide/4086520/

Evaluation of 1p losses in primary carcinomas, local recurrences and peripheral metastases from colorectal cancer patients.Evaluation of 1p losses in primary carcinomas, local recurrences and peripheral metastases from colorectal cancer patients.

... and molecular genetic analyses of colorectal adenomas and carcinomas have shown that loss of the distal part of chromosome arm ... Chromosome Deletion*. Chromosomes, Human, Pair 1 / genetics*. Colorectal Neoplasms / genetics*, pathology. DNA, Neoplasm / ... Humans. Liver Neoplasms / genetics, secondary. Loss of Heterozygosity. Lung Neoplasms / genetics, secondary. Male. ... and molecular genetic analyses of colorectal adenomas and carcinomas have shown that loss of the distal part of chromosome arm ...
more infohttp://www.biomedsearch.com/nih/Evaluation-1p-losses-in-primary/11228544.html

A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.

Chromosome Mapping. Chromosomes, Human, Pair 1 / genetics*. DNA Mutational Analysis. Diagnosis, Differential. Female. Genetic ... Humans. Inheritance Patterns. Linkage (Genetics) / genetics*. Lod Score. Male. Middle Aged. Mutation / genetics*. Pedigree. ... The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.. ... 10935828 - Clinical and genetic study of a family with spinocerebellar ataxia type 1 (sca1) and be.... 9020848 - Hypermutable ...
more infohttp://www.biomedsearch.com/nih/genome-wide-screen-linkage-mapping/16009908.html

Research Faculty -  Last Initial D - Wake Forest School of MedicineResearch Faculty - Last Initial D - Wake Forest School of Medicine

Diabetes Mellitus, Type 2; Insulin Resistance; Chromosomes, Human, Pair 1; Polymorphism, Single Nucleotide; Subcutaneous Fat ... Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Insulin Resistance; Anthracyclines; Head and Neck Neoplasms ...
more infohttp://www.wakehealth.edu/Research/FacultySR.htm?st=D&li=D&ft=R

Academic Programs Faculty -  Last Initial D - Wake Forest School of MedicineAcademic Programs Faculty - Last Initial D - Wake Forest School of Medicine

Insulin Resistance; Adipose Tissue; Diabetes Mellitus, Type 2; Polymorphism, Single Nucleotide; Chromosomes, Human, Pair 1 ... Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Insulin Resistance; Anthracyclines; Head and Neck Neoplasms ...
more infohttp://www.wakehealth.edu/School/facultySR.htm?st=D&li=D&ft=R

View source for Chromosome 1 (human) - wikidocView source for Chromosome 1 (human) - wikidoc

Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Chromosome 01 (Human)}} [[Category:Chromosomes (human),Chromosome 01]] [[Category:Genes on human chromosome 1,*]] Templates ... human chromosome]]. Humans have two copies of chromosome 1, as they do with all of the [[autosome]]s, which are the non-[[sex ... Human chromosome 01 - 400 550 850 bphs.png , width2 = 1003 , height2= 2801 , caption2 = G-banding patterns of human chromosome ...
more infohttps://www.wikidoc.org/index.php?title=Chromosome_1_

Chromosome 1 - WikipediaChromosome 1 - Wikipedia

G-bands of human chromosome 1 in resolution 850 bphs[19]. Chr. Arm[20]. Band[21]. ISCN. start[22]. ISCN. stop[22]. Basepair. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Wikimedia Commons has media related to Human chromosome 1.. *. National Institutes of Health. "Chromosome 1". Genetics Home ... Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 ...
more infohttps://en.m.wikipedia.org/wiki/Chromosome_1

Theoretical model for the formation of a CatSper hetero | Open-iTheoretical model for the formation of a CatSper hetero | Open-i

a) Diagramatic representation of CatSper subunits 1-4. (b) In this model a tetrame ... Chromosome Mapping. *Chromosomes, Human, Pair 1/genetics. *Chromosomes, Human, Pair 5/genetics ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ...
more infohttps://openi.nlm.nih.gov/detailedresult.php?img=PMC184451_1477-7827-1-53-10&req=4

A class I transgene reveals regulatory events on chromosome 1 marking peripheral T cell differentiation and memory<...A class I transgene reveals regulatory events on chromosome 1 marking peripheral T cell differentiation and memory<...

A class I transgene reveals regulatory events on chromosome 1 marking peripheral T cell differentiation and memory. Journal of ... A class I transgene reveals regulatory events on chromosome 1 marking peripheral T cell differentiation and memory. In: Journal ... A class I transgene reveals regulatory events on chromosome 1 marking peripheral T cell differentiation and memory. / Sloma, ... We show that transgene integration has occurred on chromosome 1, between D1Mit365 and D1Mit191. The gene regulatory mechanisms ...
more infohttps://mayoclinic.pure.elsevier.com/en/publications/a-class-i-transgene-reveals-regulatory-events-on-chromosome-1-mar

Is addiction really genetic? | Physics ForumsIs addiction really genetic? | Physics Forums

do a crtl/f page text search on the word chromosome when you open the link. Humans have pairs of chromosomes, numbered 1...22 ... Chromosome #1 and #7 are where certain genes (alleles) live, and some of them are reported to increase the likelihood of ... Of course everything about being human will be influenced by genes at some level so the question as to whether addictions are ...
more infohttps://www.physicsforums.com/threads/is-addiction-really-genetic.968090/

Go to 1q12 chromosome translocations form aberrant heterochromatic foci associated with changes in nuclear architecture and...Go to 1q12 chromosome translocations form aberrant heterochromatic foci associated with changes in nuclear architecture and...

Humans; *Gene Expression Regulation, Neoplastic; *Translocation, Genetic; Cell Nucleus/*genetics; Chromosomes, Human, Pair 1/* ... genetics; Chromosomes, Human, Pair 2/genetics; Heterochromatin/*genetics; Lymphoma, B-Cell/*genetics ... By detailed investigations of a 1q12 translocation to chromosome 2p, in a case of human B cell lymphoma, aberrant aHCF were ... 1q12 chromosome translocations form aberrant heterochromatic foci associated with changes in nuclear architecture and gene ...
more infohttp://www.igmm.cnrs.fr/publication/1q12-chromosome-translocations-form-aberrant-heterochromatic-foci-associated-with-changes-in-nuclear-architecture-and-gene-expression-in-b-cell-lymphoma/

Report of the second international workshop on human chromosome 1 mapping 1995<...Report of the second international workshop on human chromosome 1 mapping 1995<...

Report of the second international workshop on human chromosome 1 mapping 1995. / Weith, A.; Brodeur, G. M.; Bruns, G. A P; ... Report of the second international workshop on human chromosome 1 mapping 1995. Cytogenetics and Cell Genetics. 1996;72(2-3): ... title = "Report of the second international workshop on human chromosome 1 mapping 1995", ... T1 - Report of the second international workshop on human chromosome 1 mapping 1995 ...
more infohttps://ucdavis.pure.elsevier.com/en/publications/report-of-the-second-international-workshop-on-human-chromosome-1

anlage tumor retinal 2005:2010[pubdate] *count=100 - BioMedLib™ search engineanlage tumor retinal 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

Chromosomes, Human, Pair 7. Comparative Genomic Hybridization. Etoposide / administration & dosage. Humans. Ifosfamide / ... Chromosomes, Human, Pair 17. Epithelium / pathology. Epithelium / ultrastructure. Glial Fibrillary Acidic Protein / metabolism ... Chromosome Aberrations. Endothelin-3 / pharmacology. Female. Fluorescent Antibody Technique. Humans. Immunohistochemistry. ... Humans Animals + Gender. And for: Male Female + Age. And for these age groups: Newborn: birth to 1 month. Infant: 1 to 23 ...
more infohttp://www.bmlsearch.com/?kwr=anlage+tumor+retinal+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

adenocarcinoma endometrial stage iv 2005:2010[pubdate] *count=100 - BioMedLib™ search engineadenocarcinoma endometrial stage iv 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

Chromosomes, Human, Pair 1 / genetics. Cystadenocarcinoma, Serous / ethnology. Cystadenocarcinoma, Serous / genetics. ... Humans Animals + Gender. And for: Male Female + Age. And for these age groups: Newborn: birth to 1 month. Infant: 1 to 23 ... Humans. Middle Aged. Neoplasm Invasiveness. Neoplasm Staging. Prognosis. *[Email] Email this result item Email the results to ... Humans. Immunoenzyme Techniques. Middle Aged. Prognosis. Survival Rate. *[Email] Email this result item Email the results to ...
more infohttp://www.bmlsearch.com/?kwr=adenocarcinoma+endometrial+stage+iv+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

Boy or Girl: How Genetics Determine Your Babys Gender | ParentsBoy or Girl: How Genetics Determine Your Baby's Gender | Parents

Men on the other hand have an X and a Y. So, each of their sperm carries one of the 2 sex chromosomes, which sex chromosome is ... Humans have 1 pair of sex chromosomes. Women have 2 X chromosomes and men have an X and Y. The presence or absence of the Y ... chromosome determines the sex of your child. Because women have only X chromosomes, all of their eggs have only X chromosomes. ... Humans have roughly 25,000 genes, yet only 1 gene located on the Y chromosome, the SRY gene is required for male development. ...
more infohttps://www.parents.com/pregnancy/my-baby/gender-prediction/boy-or-girl-how-genetics-determine-your-babys-gender/

ZFIN Publication: Arndt et al., 2013ZFIN Publication: Arndt et al., 2013

Chromosome Disorders/genetics*. *Chromosome Mapping/methods*. *Chromosomes, Human, Pair 1/genetics. *Comparative Genomic ... Home Genes / Markers / Clones BLAST GBrowse Expression Antibodies Mutants / Knockdowns / Tg Constructs Anatomy / GO / Human ... American journal of human genetics 93(1): 67-77 (Journal) Generate reference. ... Modeling of PRDM16 haploinsufficiency and a human truncation mutant in zebrafish resulted in both contractile dysfunction and ...
more infohttps://zfin.org/ZDB-PUB-130710-1

Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes γ-aminobutyraldehyde<...Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes γ-aminobutyraldehyde<...

Using a panel of human/hamster somatic cell hybrids we have localized, the gene coding for the E3 isozyme to human chromosome 1 ... A cDNA clone of the E3 isozyme of human liver aldehyde dehydrogenase consisting of a 1320-base pair (bp) coding region and a ... Using a panel of human/hamster somatic cell hybrids we have localized, the gene coding for the E3 isozyme to human chromosome 1 ... Using a panel of human/hamster somatic cell hybrids we have localized, the gene coding for the E3 isozyme to human chromosome 1 ...
more infohttps://ucdavis.pure.elsevier.com/en/publications/human-aldehyde-dehydrogenase-chromosomal-assignment-of-the-gene-f

Rafael Fonseca, MD - Research Output
     - Mayo ClinicRafael Fonseca, MD - Research Output - Mayo Clinic

Chromosomes, Human, Pair 14 beta 2-Microglobulin Genetic Translocation Chromosomes, Human, Pair 17 ... FISH demonstrates treatment-related chromosome damage in myeloid but not plasma cells in primary systemic amyloidosis. Fonseca ... Chng, W. J., Kuehl, W. M., Bergsagel, P. L. & Fonseca, R., Feb 2008, In : Leukemia. 22, 2, p. 462 1 p.. Research output: ... Van Wier, S., Braggio, E. D., Baker, A., Ahmann, G., Levy, J., Carpten, J. D. & Fonseca, R., Oct 1 2013, In : Haematologica. 98 ...
more infohttps://mayoclinic.pure.elsevier.com/en/persons/rafael-fonseca/publications/?page=2&ordering=type&descending=false

PPT - Classification of Living Things Chapter 18 PowerPoint Presentation - ID:101674PPT - Classification of Living Things Chapter 18 PowerPoint Presentation - ID:101674

Chimpanzees have 2 smaller chromosome pairs we dont have. Humans have 1 larger chromosome pair (#2) they dont have. ... Human chromosome is only human chromosome that has telomere sequences at the ends BUT ALSO IN THE MIDDLE . . . suggesting it ... Chromosome #2 has a second inactive centromere region . . .. suggesting it was made by joining two other chromosomes together. ... the banding pattern is identical to human chromosome #2 ... All chromosomes have special sequences called TELOMERES at ...
more infohttps://www.slideserve.com/Sophia/introf05class

Polysomy of chromosomes 1 and/or 19 is common and associated with less favorable clinical outcome in oligodendrogliomas:...Polysomy of chromosomes 1 and/or 19 is common and associated with less favorable clinical outcome in oligodendrogliomas:...

Chromosomes, Human, Pair 19 Oligodendroglioma Chromosomes, Human, Pair 1 Fluorescence In Situ Hybridization ... demonstrated polysomy of chromosome 19, and 28 (33%) had copolysomies of chromosomes 1/19. The presence of polysomy of either/ ... demonstrated polysomy of chromosome 19, and 28 (33%) had copolysomies of chromosomes 1/19. The presence of polysomy of either/ ... demonstrated polysomy of chromosome 19, and 28 (33%) had copolysomies of chromosomes 1/19. The presence of polysomy of either/ ...
more infohttps://indiana.pure.elsevier.com/en/publications/polysomy-of-chromosomes-1-andor-19-is-common-and-associated-with-

1q21.1 deletion syndrome - Wikipedia1q21.1 deletion syndrome - Wikipedia

Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs split and a representative of each pair ... A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the ... pair is not complete, because a part of the sequence of the chromosome is missing. One chromosome has the normal length and the ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ...
more infohttps://en.wikipedia.org/wiki/1q21.1_deletion_syndrome

Alcoholism and mania: Is there a genetic relationship?<...Alcoholism and mania: Is there a genetic relationship?<...

Chromosomes, Human, Pair 1 National Institute of Mental Health (U.S.) Viverridae ... shows an ASPEX LOD of 2.3 in independent pairs from families of a comorbid proband. This is also of interest in that it is the ... shows an ASPEX LOD of 2.3 in independent pairs from families of a comorbid proband. This is also of interest in that it is the ... shows an ASPEX LOD of 2.3 in independent pairs from families of a comorbid proband. This is also of interest in that it is the ...
more infohttps://indiana.pure.elsevier.com/en/publications/alcoholism-and-mania-is-there-a-genetic-relationship
  • A QTL located on the short arm of chromosome 1, qCL1, was commonly detected near the simple sequence repeat (SSR) marker RM8068 in both BILs in three growing seasons. (elsevier.com)
  • To illustrate the usefulness of evaluating multiple loci, we here report two anaplastic oligodendrogliomas that were investigated using fluorescent in situ hybridization (FISH) and bacterial artificial chromosome (BAC)-array-based comparative genomic hybridization (aCGH). (vumc.nl)
  • By detailed investigations of a 1q12 translocation to chromosome 2p, in a case of human B cell lymphoma, aberrant aHCF were shown to be localized to the nuclear periphery and to arise as a consequence of long range 'pairing' between the translocated 1q12 and chromosome 2 centromeric regions. (cnrs.fr)
  • Cytogenetic and molecular genetic analyses of colorectal adenomas and carcinomas have shown that loss of the distal part of chromosome arm 1p is common, particularly in tumors of the left colon. (biomedsearch.com)
  • Further, 19 strains of japonica-indica hybrid tertiary trisomics were developed and provided for RFLP gene dosage analysis, resulting in locating 32 breakpoints of the extra tertiary chromosomes within genetic linkage segments defined by RFLP markers. (elsevier.com)
  • A review by Gagneux and Varki2 described a list of genetic differences between humans and the great apes. (sciforums.com)
  • If this occurs around conception, the result will be a first cell of a human with a genetic variation. (wikipedia.org)
  • Modeling of PRDM16 haploinsufficiency and a human truncation mutant in zebrafish resulted in both contractile dysfunction and partial uncoupling of cardiomyocytes and also revealed evidence of impaired cardiomyocyte proliferative capacity. (zfin.org)
  • The orientation of RFLP linkage map and the assignment of RFLP markers to the restricted chromosomal segment were determined on seven pachytene chromosomes (1, 3, 4, 5, 8, 9 and 12) of rice. (elsevier.com)
  • Meanwhile, 15 groups of RFLP markers were incorporated with the restricted segments of pachytene chromosome. (elsevier.com)
  • Thirty-seven percent metaphases from bone marrow aspirate showed the following karyotype 45XY, del (1) (p32), and two markers. (elsevier.com)
  • PRDM16 has not previously been associated with cardiac disease but is localized in the nuclei of cardiomyocytes throughout murine and human development and in the adult heart. (zfin.org)
  • Here, we report the first evidence that a distinct category of chromosomal translocations observed in human tumours-those targeting 1q12 satellite DNA-can directly mediate such perturbations by promoting the formation of aberrant heterochromatic foci (aHCF). (cnrs.fr)
  • a) Diagramatic representation of CatSper subunits 1-4. (nih.gov)
  • If a Y chromosome is present, SRY is activated signaling production of the male hormone testosterone and the development of the embryonic gonads into testes. (parents.com)
  • https://pubs.niaaa.nih.gov/publications/arh26-3/214-218.htm do a crtl/f page text search on the word chromosome when you open the link. (physicsforums.com)
  • Women have 2 X chromosomes and men have an X and Y. The presence or absence of the Y chromosome determines the sex of your child. (parents.com)
  • a parent is unknowingly the carrier of a chromosome with a copy number variation and passes it at conception to the child, with different consequences for the child. (wikipedia.org)
  • Furthermore we identified coiled-coil protein-protein interaction domains in the C-terminal tails of each of the CatSper channels, implying that CatSper channels 1,2,3 and 4 may interact directly or indirectly to form a functional tetramer. (nih.gov)
  • I think it is because we can form personal relationships and interact with humans as well as other people like dolphins, cats, and dogs. (sciforums.com)
  • Functional characterization of a human histone gene cluster duplicatio" by Corey D. Braastad, Hayk Hovhannisyan et al. (umassmed.edu)
  • a spontaneous deviation (a 'de novo' situation): two chromosomes come together of which one has a copy number variation as a result of the meiosis process. (wikipedia.org)