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.

Tissue specific expression and chromosomal mapping of a human UDP-N-acetylglucosamine: alpha1,3-d-mannoside beta1, 4-N-acetylglucosaminyltransferase. (1/980)

A human cDNA for UDP- N -acetylglucosamine:alpha1,3-d-mannoside beta1,4- N- acetylglucosaminyltransferase (GnT-IV) was isolated from a liver cDNA library using a probe based on a partial cDNA sequence of the bovine GnT-IV. The cDNA encoded a complete sequence of a type II membrane protein of 535 amino acids which is 96% identical to the bovine GnT-IV. Transient expression of the human cDNA in COS7 cells increased total cellular GnT-IV activity 25-fold, demonstrating that this cDNA encodes a functional human GnT-IV. Northern blot analysis of normal tissues indicated that at least five different sizes of mRNA (9.7, 7.6, 5.1, 3.8, and 2.4 kb) forGnT-IV are expressed in vivo. Furthermore, these mRNAs are expressed at different levels between tissues. Large amounts of mRNA were detected in tissues harboring T lineage cells. Also, the promyelocytic leukemia cell line HL-60 and the lymphoblastic leukemia cell line MOLT-4 revealed abundant mRNA. Lastly, the gene was mapped at the locus on human chromosome 2, band q12 by fluorescent in situ hybridization.  (+info)

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. (2/980)

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively. The risk of colorectal cancer was significantly higher (p<0.01) in males than females (0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively). For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer (0.2 at 50 years). These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers.  (+info)

Familial dilated cardiomyopathy locus maps to chromosome 2q31. (3/980)

BACKGROUND: Inherited gene defects are an important cause of dilated cardiomyopathy. Although the chromosome locations of some defects and 1 disease gene (actin) have been identified, the genetic etiologies of most cases of familial dilated cardiomyopathy remain unknown. METHODS AND RESULTS: We clinically evaluated 3 generations of a kindred with autosomal dominant transmission of dilated cardiomyopathy. Nine surviving and affected individuals had early-onset disease (ventricular chamber dilation during the teenage years and congestive heart failure during the third decade of life). The disease was nonpenetrant in 2 obligate carriers. To identify the causal gene defect, linkage studies were performed. A new dilated cardiomyopathy locus was identified on chromosome 2 between loci GCG and D2S72 (maximum logarithm of odds [LOD] score=4.86 at theta=0). Because the massive gene encoding titin, a cytoskeletal muscle protein, resides in this disease interval, sequences encoding 900 amino acid residues of the cardiac-specific (N2-B) domain were analyzed. Five sequence variants were identified, but none segregated with disease in this family. CONCLUSIONS: A dilated cardiomyopathy locus (designated CMD1G) is located on chromosome 2q31 and causes early-onset congestive heart failure. Although titin remains an intriguing candidate gene for this disorder, a disease-causing mutation is not present in its cardiac-specific N2-B domain.  (+info)

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (4/980)

The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the alpha-tropomyosin gene TPM3. The typical form of nemaline myopathy is inherited as an autosomal recessive trait, the locus of which we previously assigned to chromosome 2q21.2-q22. We show here that mutations in the nebulin gene located within this region are associated with the disease. The nebulin protein is a giant protein found in the thin filaments of striated muscle. A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs. We have studied the 3' end of the 20. 8-kb cDNA encoding the Z disc part of the 800-kDa protein and describe six disease-associated mutations in patients from five families of different ethnic origins. In two families with consanguineous parents, the patients were homozygous for point mutations. In one family with nonconsanguineous parents, the affected siblings were compound heterozygotes for two different mutations, and in two further families with one detected mutation each, haplotypes are compatible with compound heterozygosity. Immunofluorescence studies with antibodies specific to the C-terminal region of nebulin indicate that the mutations may cause protein truncation possibly associated with loss of fiber-type diversity, which may be relevant to disease pathogenesis.  (+info)

Cloning, expression, and genetic mapping of Sema W, a member of the semaphorin family. (5/980)

The semaphorins comprise a large family of membrane-bound and secreted proteins, some of which have been shown to function in axon guidance. We have cloned a transmembrane semaphorin, Sema W, that belongs to the class IV subgroup of the semaphorin family. The mouse and rat forms of Sema W show 97% amino acid sequence identity with each other, and each shows about 91% identity with the human form. The gene for Sema W is divided into 15 exons, up to 4 of which are absent in the human cDNAs that we sequenced. Unlike many other semaphorins, Sema W is expressed at low levels in the developing embryo but was found to be expressed at high levels in the adult central nervous system and lung. Functional studies with purified membrane fractions from COS7 cells transfected with a Sema W expression plasmid showed that Sema W has growth-cone collapse activity against retinal ganglion-cell axons, indicating that vertebrate transmembrane semaphorins, like secreted semaphorins, can collapse growth cones. Genetic mapping of human SEMAW with human/hamster radiation hybrids localized the gene to chromosome 2p13. Genetic mapping of mouse Semaw with mouse/hamster radiation hybrids localized the gene to chromosome 6, and physical mapping placed the gene on bacteria artificial chromosomes carrying microsatellite markers D6Mit70 and D6Mit189. This localization places Semaw within the locus for motor neuron degeneration 2, making it an attractive candidate gene for this disease.  (+info)

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. (6/980)

Two Swedish families with autosomal dominant myopathy, who also had proximal weakness, early respiratory failure, and characteristic cytoplasmic bodies in the affected muscle biopsies, were screened for linkage by means of the human genome screening set (Cooperative Human Linkage Center Human Screening Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24-q31 was established. A maximum combined two-point LOD score of 4.87 at a recombination fraction of 0 was obtained with marker D2S1245. Haplotype analysis indicated that the gene responsible for the disease is likely to be located in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which suggests a common origin.  (+info)

A genetic linkage map of rat chromosome 9 with a new locus for variant activity of liver aldehyde oxidase. (7/980)

A genetic linkage map of rat chromosome 9 consisting of five loci including a new biochemical marker representing a genetic variation of the activity of the liver aldehyde oxidase, (Aox) was constructed. Linkage analysis of the five loci among 92 backcross progeny of (WKS/Iar x IS/Iar)F1 x WKS/Iar revealed significant linkages between these loci. Minimizing crossover frequency resulted in the best gene order: Aox-D9Mit4-Gls-Cryg-Tp53l1. The homologues of the Cryg, Gls, and Aox genes have been mapped on mouse chromosome 1 and human chromosome 2q. The present findings provide further evidence for the conservation of synteny among these regions of rat, mouse, and human chromosomes.  (+info)

Mismatch repair and differential sensitivity of mouse and human cells to methylating agents. (8/980)

The long-patch mismatch repair pathway contributes to the cytotoxic effect of methylating agents and loss of this pathway confers tolerance to DNA methylation damage. Two methylation-tolerant mouse cell lines were identified and were shown to be defective in the MSH2 protein by in vitro mismatch repair assay. A normal copy of the human MSH2 gene, introduced by transfer of human chromosome 2, reversed the methylation tolerance. These mismatch repair defective mouse cells together with a fibroblast cell line derived from an MSH2-/- mouse, were all as resistant to N-methyl-N-nitrosourea as repair-defective human cells. Although long-patch mismatch repair-defective human cells were 50- to 100-fold more resistant to methylating agents than repair-proficient cells, loss of the same pathway from mouse cells conferred only a 3-fold increase. This discrepancy was accounted for by the intrinsic N-methyl-N-nitrosourea resistance of normal or transformed mouse cells compared with human cells. The >20-fold differential resistance between mouse and human cells could not be explained by the levels of either DNA methylation damage or the repair enzyme O6-methylguanine-DNA methyltransferase. The resistance of mouse cells to N-methyl-N-nitrosourea was selective and no cross-resistance to unrelated DNA damaging agents was observed. Pathways of apoptosis were apparently intact and functional after exposure to either N-methyl-N-nitrosourea or ultraviolet light. Extracts of mouse cells were found to perform 2-fold less long-patch mismatch repair. The reduced level of mismatch repair may contribute to their lack of sensitivity to DNA methylation damage.  (+info)

Find information about Albright College precalculus. As the entrance requirements for engineering programs vary, learn about the various specialization options available.
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ARhiSi combined analysis of ARhiSi-1 and ARhiSi-2: responder (healed or improved) to treatment from visit 2 (day 3) to visit 5 (day 14) (FAS, full analysis set;
Visit Healthgrades for information on Dr. Ronald Albright, MD Find Phone & Address information, medical practice history, affiliated hospitals and more.
The Hanover Insurance Group has appointed Kristen Albright to chief actuary. In this role, she will be responsible for all actuarial functions
October 2011. I was asked to judge a show down in Enfield Middx by a good friend of mine. The show is run by the Capel Manor bonsai club and is a small show but the quality of display is very high. Along with fellow judge Bryan Albright, we selected this Chamecyparis as best tree in show. The only criticism with the display was the pot. Maybe a slab or a flat stone would make a better composition? ...
The prognostic impact of minimal disseminated disease (MDD) and anti-anaplastic lymphoma kinase (ALK) antibody titer in children with ALK-positive anaplastic large cell lymphoma (ALCL) was reported...
Health,In the first genomewide search for the genetic roots of the most commo...The 34 so-called single nucleotide polymorphisms or SNPs represent...Although we havent located the exact gene responsible for sporadic...ALS also known as Lou Gehrigs disease for the legendary Yankee fir... Genes behind inherited forms of ALS--responsible for about only 5 p...,Gene,Hunters,at,Johns,Hopkins,Close,In,On,Lou,Gehrigs,Disease,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
Recommended Readings. Dixon-Salazar, T. J., J. L. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. E. Schaffer, J. Olvera, et al. 2012. "Exome Sequencing can Improve Diagnosis and Alter Patient Management." Science Translational Medicine 4 (138). Novarino, G., N. Akizu, and J. G. Gleeson. 2011. "Modeling Human Disease in Humans: The Ciliopathies." Cell 147 (1): 70-79. Novarino, G., P. El-Fishawy, H. Kayserili, N. A. Meguid, E. M. Scott, J. Schroth, J. L. Silhavy, et al. 2012. "Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy." Science 338 (6105): 394-397. Parisi, M. A., C. L. Bennett, M. L. Eckert, W. B. Dobyns, J. G. Gleeson, D. W. W. Shaw, R. McDonald, A. Eddy, P. F. Chance, and I. A. Glass. 2004. "The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis is Present in a Subset of Individuals with Joubert Syndrome." American Journal of Human Genetics 75 (1): 82-91. Yaari, R., I. A. Anselm, I. S. Szer, D. M. Malicki, M. P. Nespeca, and J. G. Gleeson. ...
Hi Pam We just purchased a Monoclonal Mouse Anti-Human ALK Protein, Clone ALK1 from DAKO. I havent had a chance to try it yet though. The code No. is M 7195. You can give them a call at 800-235-5763. Good Luck Denise Sapier Fred Hutchinson Cancer Research Center Clinical Pathology Shared Resources 206-667-2385 SC-111 ...
Beijing, 24 February 1997 (RFE/RL) - U.S. Secretary of State Madeleine Albright opened her contacts with Chinese leaders in Beijing today by holding a round of talks with Foreign Minister Qian Qich...
Find information about Albright College microbiology lab. You can enter nursing with either an associates degree or BSN. As a licensed vocational nurse (LVN), you may provide patient care under the supervision of a registered nurse (RN).
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... ...
Myc-DDK-tagged ORF clone of Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1 as transfection-ready DNA - 10 µg - OriGene - cdna clones
The discovery of the genetic basis of neuroblastoma, a childhood cancer, paves the way for possible treatments. Read this informative article to find out how the ALK gene acts as an oncogene - a cancer causing gene.
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പദാർത്ഥത്തിന്റെ അവസ്ഥയെയും (ഖരം, ദ്രാവകം, വാതകം) താപനിലയെയും ആശ്രയിച്ച് മൂന്ന് ഘടനകൾ സ്വീകരിക്കാൻ AlCl3ന് സാധിക്കും. ഖരാവസ്ഥയിലുള്ള AlCl3, ഷീറ്റിന് സമാനമായ പാളികളുള്ള ഘനരൂപമായി കാണപ്പെടുന്നു. ഈ അവസ്ഥയിൽ അലൂമിനിയം, അഷ്ടമുഖ ഏകോപന ജ്യാമിതിയായി കാണപ്പെടുന്നു.[7] ദ്രവീകരിച്ച അവസ്ഥയിൽ അലൂമിനിയം ട്രൈക്ലോറൈഡ് ഒരു ഡിമർ Al2Cl6 ആയി ടെട്രാകോർഡിനേറ്റ് അലൂമിനിയം കാണപ്പെടുന്നു. ...
Looking for online definition of Albright syndrome in the Medical Dictionary? Albright syndrome explanation free. What is Albright syndrome? Meaning of Albright syndrome medical term. What does Albright syndrome mean?
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
Albright, J F.; Albright, J W.; and Dusanic, D G., "Trypanosome-induced splenomegaly and suppression of mouse spleen cell responses to antigen and mitogens." (1977). Subject Strain Bibliography 1977. 1699 ...
Anaplastic large cell lymphoma (ALCL) represents a generally recognized group of large cell lymphomas. Defining features consist of a proliferation of predominantly large lymphoid cells with strong expression of the cytokine receptor CD30 and a characteristic growth pattern. With the use of molecular and clinical criteria, 3 entities of ALCL have been identified: primary systemic anaplastic lymphoma kinase (ALK)(+) ALCL, primary systemic ALK(-) ALCL, and primary cutaneous ALCL. ALK expression is caused by chromosomal translocations, most commonly t(2;5). ALK(+) ALCL predominantly affects young male patients and, if treated with chemotherapy, has a favorable prognosis. It shows a broad morphologic spectrum, with the "common type," the small cell variant, and the lymphohistiocytic variant being most commonly observed. The knowledge of the existence of these variants is essential in establishing a correct diagnosis. ALK(-) ALCL occurs in older patients, affecting both genders equally and having an ...
Posted by Cort Johnson(Evidence for a heritable predisposition to Chronic Fatigue Syndrome. Albright F, Light K, Light A, Bateman L, Cannon-Albright
A LOD score is the likelihood of linkage between two genetic traits. If the LOD score is high, then the traits are closely linked...
In the US alone, cataracts affect over 20 million adults 40 and older and half of all seniors age 80 and up. Over time, the lenses in our eyes can become
Thank you for your interest in spreading the word on Stroke.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address. ...
You can go; but youll have to pay out of pocket. It was worth it for me in the long run. Ill easily make my costs back with the items that I finally got documented and presented at the formal PEB. Ia week. asked a friend who she used and called and made an appointment. Got seen within Have you ...
Press Release issued Dec 26, 2014: Global Markets Directs, Anaplastic Large Cell Lymphoma (ALCL) - Pipeline Review, H2 2014, provides an overview of the Anaplastic Large Cell Lymphoma (ALCL)s therapeutic pipeline.
Looking for medication to treat systemic+anaplastic+large+cell+lymphoma? Find a list of current medications, their possible side effects, dosage, and efficacy when used to treat or reduce the symptoms of systemic+anaplastic+large+cell+lymphoma
Ki-1 anaplastic large cell lymphoma (ALCL) commonly affects the skin, lymph nodes, and bone. Primary ALCL of the alimentary tract is rare. The authors describe a case of primary ALCL of the duodenum...
Anaplastic large cell lymphoma arises in thymocytes and requires transient T cell receptor expression for thymic egress. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
In the WHO classification,2 ALCL is divided into cutaneous and systemic types, with the latter further delineated by the presence or absence of ALK protein expression. The presence of ALK protein defines a group with an excellent prognosis when treated with standard chemotherapy.8⇓-10,22 Our results confirm the distinctive clinical features of ALK+ ALCL, because our patients were younger and had a more favorable prognosis compared with ALK− ALCL or PTCL-NOS. However, this favorable prognosis may be largely dictated by the younger age at presentation, as we found no outcome differences when the analysis was limited to ALCL patients aged 40 years and older. Interestingly, patients with stage III disease had a better outcome compared with those with stage IV disease in ALK+ ALCL, a feature further highlighted by the prognostic importance of multiple extranodal sites of involvement. Prior studies have suggested that extranodal disease is more prevalent in ALK+ ALCL.8,16 However, in the present ...
Table 2. LOD scores for linkage between cataract with microcornea and 22q11.2-q12.2 markers. Two-point LOD scores for linkage in microsatellite markers across the β-crystallin gene cluster in the chromosomal regions 22q11.2-q12.2. The maximum two-point lod score was achieved for D22S1114 at θ=0. Zmax, the maximum lod score achieved, is given for each marker. Significant linkage was found with microsatellite marker D22S1144 with pair-wise lod score exceeding 3.0.. ...
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 instruction of getting older, Immunity, and an infection has been a "labor of work. " once we begun, there existed an enormous literature-but deal with- capable, we concept, given our years of expertise within the zone sometimes called immunogerontology. notwithstanding, within the time that weve got been at paintings, the hot suitable literature has elevated at a prodigious expense. The extra we learn and attempted to assimilate, the farther we fell in the back of. with the intention to have any wish of finishing a ebook in this speedily evolving subject, we have now been pressured to develop into more and more selective in overlaying new and re cent courses. We dare to wish that many learn- ers will locate the publication worthy and just a couple of will dweIl at the inevitable inadequacies. We contemplate the booklet a piece in development, and welcome feedback for destiny variants. 5 chapters disguise numerous facets of an infection and the decline of immunity with age. the 1st ...
Secretary of State Madeleine Albright hosted American Muslim representatives Tuesday at her departments first iftar dinner, the evening meal that breaks the days fast during Ramadan.Responding to
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Dr. Dansie responded: Very specific. This is a very specific question and cant be answered adequately in 400 characters. You should really ask this question to your treating physician since they will know all the specifics of your particular case.
P-value = 0.028, NPL = 1.91, Dominant Max HLOD = 0.19, Re...... P-value = 0.028, NPL = 1.91, Dominant Max HLOD = 0.19, Recessive Max HLOD = 0.53 in Ashkenazi pedigrees; P-value = 0.037, NPL = 1.81, Dominant Max HLOD = 0.45, Recessive Max HLOD = 0.6 in BPI-restricted pedigrees More... ...
P-value = 0.035, NPL = 1.82, Dominant Max HLOD = 0.87, Re...... P-value = 0.035, NPL = 1.82, Dominant Max HLOD = 0.87, Recessive Max HLOD = 1.23 in Ashkenazi pedigrees; P-value = 0.069, NPL = 1.5, Dominant Max HLOD = 0.52, Recessive Max HLOD = 0.88 in BPI-restricted pedigrees More... ...
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TY - JOUR. T1 - Chromophobe renal cell carcinoma with sarcomatoid differentiation. AU - Lauer, Scott R.. AU - Zhou, Ming. AU - Master, Viraj A.. AU - Osunkoya, Adeboye O.. PY - 2013/4/1. Y1 - 2013/4/1. N2 - OBJECTIVE: To investigate the clinicopathologic features of chromophobe renal cell carcinoma with sarcomatoid differentiation. STUDY DESIGN: A search was made through the surgical pathology and expert consult files of two major academic institutions from 2003 to 2011 for cases of chromophobe renal cell carcinoma with sarcomatoid differentiation. RESULTS: Fourteen patients were identified. The patients included 9 males (64%) and 5 females (36%). The mean patient age was 60.4 years (range, 40-82 years). There was a left-sided predominance: left (9 patients) and right (5 patients). The mean tumor size was 14.6 cm (range, 9.5-28.0 cm), and the mean percentage sarcomatoid differentiation was 67% (range, 30-99%). All tumors exhibited moderate to extensive areas of necrosis. The nonsarcomatoid ...
Anaplastic large cell lymphoma (ALCL) is characterized by proliferation of anaplastic large CD 30+ T-cell lymphoid cells with abundant cytoplasm. Primary cutaneous ALCL is a rare form of ALCL, usually seen in elderly patients. In this report, the aut
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This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by ...
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Madeline Albright news articles and editorial content published by Common Dreams, non-profit independent media publishing since 1997 in Portland, Maine.
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A whole-genome scan to identify large-scale chromosomal damage can help doctors choose the best treatment option for children with neuroblastoma, one of the most common types of childhood cancer, finds an international collaboration ...
Abstract: Anaplastic lymphoma kinase (ALK) gene fusions occur in 3%-7% of non-small-cell lung cancer (NSCLC) cases. Ceritinib, a once-daily, oral ALK inhib
Tennessean Ray Albright is perhaps best known for his service in the state senate from 1968-1994. Into his retirement, Albright was diagnosed with mesothelioma, a deadly lung disease he tragically developed 40 years after taking a job cutting steel at Combustion Engineering in 1953.
... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
Figure 4 shows an example of such a profile across 70,000,000 base pairs of human Chromosome 2.[2] ... Replication timing and chromosome structure[edit]. Figure 5. Nucleus of a female amniotic fluid cell. Top: Both X-chromosome ... Chromosome Res 18: 115-125. *^ Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ... Figure 4: A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. The red horizontal line ...
The human FABP1 gene is located on the short (p) arm of chromosome 2 from base pair 88,122,982 to base pair 88,128,131. FABP1 ... FABP1 is a human gene coding for the protein product FABP1 (Fatty Acid-Binding Protein 1). It is also frequently known as liver ... Chan L, Wei CF, Li WH, Yang CY, Ratner P, Pownall H, Gotto AM, Smith LC (March 1985). "Human liver fatty acid binding protein ... On exon 3 of the human FABP1 gene an Ala to Thr substitution has been identified leading to a T94A missense mutation. Carriers ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Many ribosomal protein L23a pseudogenes are scattered through the human genome. Human evolutionary genetics Human chromosome 2 ... chromosome segment inversions on human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18. After the completion of the Human genome ...
... six pairs of) chromosomes, i.e. 2n = 12. The draft genome and transcriptomes was published in 2014. Its genome is 634.5 Mb in ... In humans,O. viverrini inhabits mainly the bile ducts and, rarely, the gall bladder and pancreatic duct. Heavy infection can ... The first human specimen was described by a British parasitologist Robert Thomson Leiper in 1915, but without knowing the exact ... The first human case was discovered by Robert Thomson Leiper in 1915. O. viverrini (together with Clonorchis sinensis and ...
... is located on human chromosome 2, at 2p24.3. It has 1512 base pairs in the reference sequence mRNA transcript. The ... 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs ... Family with sequence similarity 49, member A, also known as FAM49A, is a protein which in humans is encoded by the FAM49A gene ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
"Homologous expressed genes in the human sex chromosome pairing region". Nature. 317 (6039): 739-41. doi:10.1038/317739a0. PMID ... CD99 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Human CD99 genome location and CD99 ... a gene shared by the human X and Y chromosomes". Cold Spring Harb. Symp. Quant. Biol. 51 (1): 205-12. doi:10.1101/SQB.1986.051. ... Unusually for a gene present on the X chromosome, the CD99 gene does not undergo X inactivation, and it was the first such ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... The normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). Normal ... The karyotype of humans includes only 46 chromosomes.[15][16] The great apes have 48 chromosomes. Human chromosome 2 is now ... Humans have FN = 82,[37] due to the presence of five acrocentric chromosome pairs: 13, 14, 15, 21, and 22 (the human Y ...
... is located on human Chromosome 2, at 2q31.1. It contains 10 distinct exons. The gene itself is 28,930 base pairs long ... This variant is also shorter than the other two at 1,063 base pairs. The ERICH2 protein is 436 amino acids in length, and has a ... The longest transcript variant is 1,388 base pairs in length, 1,311 of which are coding. The second variant differs from the ... Database, GeneCards Human Gene. "IWS1 Gene - GeneCards , IWS1 Protein , IWS1 Antibody". www.genecards.org. Retrieved 2017-05-07 ...
... is essential for homologous chromosome pairing in meiosis during spermatogenesis. Targeted inactivation of FKBP6 in mice ... FK506 binding protein 6, also known as FKBP6, is a human gene. The encoded protein shows structural homology to FKBP ... 2003). "Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis". Science. 300 (5623): 1291-5. ... Mutations in this gene have been associated with male infertility in humans. FKBP6 is deleted in Williams syndrome, however ...
Locus The human gene WWC2 is found on chromosome 4 at band 4q35.1. The gene is found on the plus strand of the chromosome and ... is 8,822 base pairs long. The gene contains 23 exons. The WWC2 locus is quite complex and appears to produce several proteins ... Paralogs There are two paralogs of WWC2 found in humans, WWC1 and WWC3. WWC1 is located on chromosome 5 and is a probable ... WWC3 is located on chromosome X and not much is known about its function. Orthologs WWC2 is highly conserved in Mammalia, Aves ...
Keratin, type I cytoskeletal 23 is a protein that in humans is encoded by the KRT23 gene. The protein encoded by this gene is a ... The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I ... Genes Chromosomes Cancer. 30 (2): 123-35. doi:10.1002/1098-2264(2000)9999:9999<::AID-GCC1070>3.0.CO;2-W. PMID 11135429. ... Hesse M, Magin TM, Weber K (2002). "Genes for intermediate filament proteins and the draft sequence of the human genome: novel ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene.[5][6][7] The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged ... JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite ... October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. doi ... Human Molecular Genetics. 12 (12): 1427-37. doi:10.1093/hmg/ddg159. PMID 12783850. Kim MJ, Park BJ, Kang YS, Kim HJ, Park JH, ...
The isoelectric point of EFHC2 is estimated to be 7.13 in humans. Relative to other proteins expressed in humans, EFHC2 has ... The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime ... EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is also one of a few, select number ... A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... Rs727428 position 7634474 is in several percent of humans. (TAAAA)(n) is five base pairs that repeats a variable number of ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (Jul 2002). "Sex hormone-binding globulin in the human ... In the womb the human fetus has a low level of SHBG allowing increased activity of sex hormones. After birth, the SHBG level ...
... strand of chromosome 13 at position 13q13.3. It spans from 39,009,865 base pairs from the pter to 39,038,095 bp from the pter, ... "Human PubMed Reference:". "GeneCards". Human Gene Database. "BioCompare". BioCompare. "Ensembl". Ensembl. "GeneCards". Human ... According to the Human Protein Atlas, PROSER1 has general cytoplasmic expression and is expressed in all RNA tissue categories ... "Tissue Atlas". The Human Protein Atlas. "Ensembl". Ensembl. "Ensembl". Ensembl. "Uniprot". Uniprot. "Expasy". Expasy. "PSORT II ...
In humans, both genes are located on chromosome 2 in position 2p12. The CD8 co-receptor is predominantly expressed on the ... To function, CD8 forms a dimer, consisting of a pair of CD8 chains. The most common form of CD8 is composed of a CD8-α and CD8- ... PDB: 1cd8​; Leahy DJ, Axel R, Hendrickson WA (March 1992). "Crystal structure of a soluble form of the human T cell coreceptor ... T-cell Group - Cardiff University Mouse CD Antigen Chart Human CD Antigen Chart CD8 alpha - Marker for cytotoxic T lymphocytes ...
The PRR30 gene is located on the short arm of human chromosome 2 at band 2p23.3. It flanked by Prolactin regulatory element ... PRR30 has a length of 2618 base pairs of linear DNA. The PRR30 promoter directly flanks the gene and is 1162 base pairs in ... a resource of human open reading frames representing over 10,000 human genes". Genomics. 89 (3): 307-15. PMID 17207965. 7. NCBI ... PRR30 Splice Pattern Human protein PRR30 consists of 412 amino acid residues. It has a molecular weight of 44.7 kdal and an ...
The gene product is a 6,657 base pair mRNA with 41 predicted exons in the human gene. Ensembl predicts ten alternative splice ... The predicted promoter region spans 1002 base pairs from 98,611,892 through 98,612,893 on the minus strand of chromosome 2. The ... The first spans 216 base pairs from 98,612,501 through 98,612,716. The second spans 182 base pairs from 98,612,262 through ... The human form has 1883 amino acid residues, with an isoelectric point of 8.74 and a molecular mass of 205,100 Daltons. It has ...
It is encoded by the PRR21 gene, which is found on human chromosome 2, band 2q37.3. The gene exists in several species, both ... PRR21 consists of 389 amino acids or 1170 base pairs, all found within one exon. Like other proline-rich proteins, it contains ... "Human PubMed Reference:". "GeneCards". "National Center for Biotechnology Information". Williamson MP (January 1994). "The ... 297 ( Pt 2): 249-60. doi:10.1042/bj2970249. PMC 1137821 . PMID 8297327. "Proline-rich repeat" - via WikiMedia Commons. " ...
The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. The genomic range is 41937502- ... Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. In ... The human protein has a predicted molecular weight of 28 kDa and an isoelectric point of 9.88. TMEM33 has a significantly high ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
They consist of tandemly repeated non-coding short nucleotide sequences (TTAGGG in all vertebrates), in humans spanning over ... Telomeres are the outermost parts of linear chromosomes. ... the last 2 to 15 kilobase pairs of the chromosome. Due to the ...
A specific pair of human chromosomes in group A (Chromosomes, Human, 1-3) of the human chromosome classification. ... Chromosomes, Human, Pair 2: ...
Chromosome Location * chr7:99971067- 99997722 (+) (NM_013439) * chr7:99971067- 99997722 (+) (NM_178272) ... Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the ... Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This ... Interacts with PTPN6/SHP-1 and PTPN11/SHP-2 upon tyrosine phosphorylation. Interacts with herpes simplex virus 1 glycoprotein B ...
Human heart evolved for endurance. Adaptations in heart structure and function likely enabled endurance and survival in ... Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Soumitra Ghosh, Richard M. Watanabe, Elizabeth R. ... reported genome-wide significance on chromosome 2q37 on a combined data set of 440 Mexican-American affected sib pairs (ASPs). ... affected sib pair;. lod,. logarithm of odds;. MLS,. maximum lod score;. MODY,. maturity-onset diabetes of the young;. BMI,. ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
... were genotyped on members of 2 large pedigrees (OOA, BIP167) segregating bipolar affective disorder. Using the multipoint ... Chromosome Mapping. Chromosomes, Human, Pair 6 / genetics*. Female. Humans. Male. Pedigree. Grant Support. ... Previous Document: The chromosome 6 sequencing project at the Sanger Centre.. Next Document: Isolation and characterisation of ... 7702208 - A genetic and physical map of bovine chromosome 3.. 2888718 - Isolation of a polymorphic genomic clone from ...
... n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. Primers flanking the dinucleotide repeat ... Chromosome Mapping. Chromosomes, Human, Pair 20*. DNA, Satellite / genetics*. Diabetes Mellitus, Type 2 / genetics. Female. ... A highly polymorphic (dC-dA)n.(dG-dT)n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. ... Humans. Linkage (Genetics). Male. Molecular Sequence Data. Pedigree. Polymorphism, Genetic. Repetitive Sequences, Nucleic Acid ...
... to a novel myopathy locus on chromosome 2q31. The mode of inheritance in TMD is autosomal domi ... Chromosomes, Human, Pair 2 / genetics*. Creatine Kinase / blood. Electromyography. Female. Genome. Humans. Linkage (Genetics). ... The linkage studies in four different TMD families revealed a common core haplotype with a set of markers on the chromosome ... to a novel myopathy locus on chromosome 2q31. The mode of inheritance in TMD is autosomal dominant and the typical symptom of ...
Based on the prognostic role of Her-2 amplification and protein overexpression in breast cancer, various studies have been ... Chromosome Aberrations. Chromosomes, Human, Pair 17 / genetics*. Female. Gene Amplification. Humans. Immunohistochemistry. In ... Previous Document: Phosphocreatine recovery overshoot after high intensity exercise in human skeletal muscle is associa.... ... Protein expression was evaluated immunochistochemically with CB11 mouse monoclonal anti-human antibody. The reaction was ...
... one pair of homologous chromosomes that codes for eye color. PHRASES: bring something up to code renovate an old building or ... specify the genetic sequence for (an amino acid or protein): genes that code for human growth hormone. ∎ be the genetic ... 2. the science or study of such procedures. Also cryptanalytics . -cryptanalyst , n. -cryptanalytic, cryptanalytical , adj.. ... 2. the procedures and methods of making and using codes and ciphers. -cryptographer, cryptographist , n. -cryptographic , adj. ...
Humans have 46 total chromosomes, or 23 HOMOLOGOUS PAIRS. Humans have 46. chromosomes, or 23. pairs. Dont forget our plants ... of the amount of chromosomes!. Review- What is a Chromosome? A CHROMOSOME. is a threadlike structure in the nucleus of a cell ... Prophase- DNA (chromatin) condenses to form chromosomes. Metaphase- Chromosomes migrate to cell center. Anaphase - Chromosomes ... Chromosomes line up to the center of the cell, preparing to divide. P. M. AT. PM. A. T. ANAPHASE. Chromosomes split and move ...
Chromosomes, Bacterial * Chromosomes, Human, Pair 2 * Cloning, Molecular * Cricetinae * DNA, Bacterial / isolation & ... Based on electrophoretic conditions described in this report, we can determine the size of bacterial artificial chromosome (BAC ... Pulsed field separation of large supercoiled and open-circular DNAs and its application to bacterial artificial chromosome ...
Chromosomes, Human, Pair 6. Genetic Linkage*. Genome, Human. Humans. Huntington Disease / genetics*. Middle Aged. Pedigree. ... A third linkage peak on chromosome 6q22 (LOD=2.48) may confirm the most promising locus from a previous genome scan. Two other ... We discovered two novel loci on chromosome 2. Chromosome 2p25 (logarithm of the odds ratio (LOD)=4.29) and 2q35 (LOD=3.39) may ... 7182125 - Chromosome polymorphism in the rainbow trout (salmo gairdneri richardson).. 4040175 - Isolation and characterization ...
... shown by molecular analysis to have arisen from the paternal chromosome. Examination of microsatellite markers indicated ... Chromosome Deletion* * Chromosomes, Human, Pair 2* * Coloboma / genetics* * Craniosynostoses / genetics* * Humans * Infant, ... shown by molecular analysis to have arisen from the paternal chromosome. Examination of microsatellite markers indicated ...
Human cells have 23 pairs of chromosomes. How many chromatids are present during:. G1?. G2?. Interphase. Chromosomes Condense. ... Human - 46. Tobacco - 48. Donkey - 62. Horse - 64. Mule - 63. Eukaryotes have many, linear chromosomes. www.youtube.com/watch?v ... Chromosomes are at metaphase plate.. Spindle attaches to kinetochore of chromosomes at centromere. Chromatids split apart at ... They form in attached, identical pairs.. Chromatid: 1 member of the pair. Centromere: region where they are joined. Chromatids ...
Human cells have 23 pairs of chromosomes. How many chromatids are present during:. G1?. G2?. Interphase. Chromosomes Condense. ... Chromosomes are at metaphase plate.. Spindle attaches to kinetochore of chromosomes at centromere. Chromatids split apart at ... They form in attached, identical pairs.. Chromatid: 1 member of the pair. Centromere: region where they are joined. Chromatids ... Prokaryotes only have one, circular chromosome.. Eukaryotes have many, linear chromosomes. Most eukaryotic cells have 2 copies ...
The AKT1 primer pair was 5′-ACGGGCACATTAAGATCACA-3′, 5′-TGCCGCAAAAGGTCTTCATG-3′. ... human chromosome fragment;. KO mouse,. knockout mouse;. HSA,. human serum albumin;. hu-mAbs,. human monoclonal antibodies;. ES ... In addition, hybridomas producing human IgG/κ antibodies against human proteins other than HSA, human tumor necrosis factor α ( ... They mounted an antigen-specific human antibody response upon immunization with human serum albumin, and human serum albumin- ...
Chromosome Mapping * Chromosomes, Human, Pair 2 / genetics * Family Health * Female * Gene Frequency ... Results: The region with the highest LOD score was located at chromosome 2p23-p24 and included the ALK locus under models of ...
Chromosomes, Human, Pair 1 / genetics * Chromosomes, Human, Pair 17 / genetics * Chromosomes, Human, Pair 2 / genetics ... 4,463 controls and 2,319 affected sib-pair (ASP) families. Of these, 18 regions were replicated (P , 0.01; overall P , 5 × 10(- ...
A novel transmitted 2-3 Mb deletion of 2q14.1-q14.2 was found in an affected boy from a consanguineous family with a possible ... Chromosomes, Human, Pair 7 / genetics*. Dosage Compensation, Genetic / genetics*. Female. Gene Deletion*. Heterozygote. ... Title: European journal of human genetics : EJHG Volume: 14 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication ... 10799975 - A new inherited interstitial deletion of the distal long arm of chromosome 4.. 19717645 - Karyotype-specific ...
Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple ... Chromosome Aberrations* * Chromosome Banding * Chromosome Deletion* * Chromosomes, Human, Pair 1* * Chromosomes, Human, Pair 2 ... Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple ...
... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
Chromosomes, Human, Pair 21 * Chromosomes, Human, Pair 8 * Core Binding Factor Alpha 2 Subunit / genetics ... Integrative genetic analysis of mouse and human AML identifies cooperating disease alleles J Exp Med. 2016 Jan 11;213(1):25-34. ... 4 Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065 Center for Epigenetics ... 9 Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065 Center for Epigenetics ...
Free flashcards to help memorize facts about genetics chapter 1-2. Other activities to help include hangman, crossword, word ... human cells. how many chromosomes do somatic cells carry?. 23 pairs, 46 chromosomes. ... 1. the chromosomes condense to threadlike form they attach to their homologue (same type of father chromosome) and they swap ... 1. chromosomes condense and become reconizable as chromosomes 2. chromosomes continue to condense until it is two long strands ...
LS.2.16: Explain why chromosomes in body cells exist in pairs. Human Karyotyping. ... Human Karyotyping. Mouse Genetics (One Trait). Mouse Genetics (Two Traits). LS.2.18: Recognize genetic errors caused by changes ... Human Karyotyping. LS.2.19: Apply the basic laws of Mendelian genetics to solve simple monohybrid crosses, using a Punnett ... LS.5.39: Analyze the consequences of human activities on ecosystems. Coral Reefs 1 - Abiotic Factors. Coral Reefs 2 - Biotic ...
  • We discovered two novel loci on chromosome 2. (biomedsearch.com)
  • Two other candidate loci are suggestive on chromosome 5 (LOD=3.31 at 5p14 and LOD=3.14 at 5q32). (biomedsearch.com)
  • Particularly, much effort has been made by a number of groups to create mice with humanized Ig ( Ig ) loci for obtaining therapeutic human mAbs (hu-mAbs) monoclonal antibodies ( 4 , 5 ). (pnas.org)
  • Their studies established that transgenic mice carrying a portion of human IgH (14q32.33, ≈1.5 Mb) and Igκ (2q12, ≈2 Mb) loci in the endogenous Ig -knockout (KO) background were successfully used for the production of antigen-specific fully human antibodies. (pnas.org)
  • Although the introduction of entire human Ig loci into mice to reconstitute full diverse human antibody repertoires has been a next major challenge, this has never been achieved because the cloning of over megabase-sized DNA fragments encompassing whole human Ig loci remains difficult even with the use of yeast artificial chromosomes ( 1 , 5 ). (pnas.org)
  • Although altered DNA methylation did not persist in 2 tissues, dysregulated expression of genes neighbouring affected loci was observed, suggesting the possibility of intergenerational transmission of environmentally induced disease not mediated by Mendelian inheritance [ 6 ]. (hindawi.com)
  • In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. (wikipedia.org)
  • More than 25 loci and genes on different chromosomes have been associated with congenital cataract. (wikipedia.org)
  • For every chromosome in one of dad's sperm, there is a matching (homologous) chromosome in mom's egg. (csbsju.edu)
  • 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 in the sperm that fertilizes the egg dictates the baby's sex. (parents.com)
  • for sexually reproduced human beings that means at the beginning of the process of fertilization at "first contact" of the male sperm with the female oocyte - Carnegie Stage 1a. (lifeissues.net)
  • The displacement is attributed to sperm handling by the female fly as multiple matings are conducted and is most significant during the first 1-2 days after copulation. (wikipedia.org)
  • Incapacitation of first male sperm by second male sperm becomes significant 2-7 days after copulation. (wikipedia.org)
  • Human ALOX15 was initially named arachidonate 15-lipoxygenase or 15-lipoxygenase but subsequent studies uncovered a second human enzyme with 15-lipoxygenase activity as well as various non-human mammalian Alox15 enzymes that are closely related to and therefore orthologs of human ALOX15. (wikipedia.org)
  • It is one of eleven MART (Mammalian Retrotransposon Derived) genes in humans related to Sushi-like retrotransposons with long terminal repeats from fish and amphibians. (wikipedia.org)
  • The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in the body. (wikipedia.org)
  • https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=WWC2&submit=Go Gene cards. (wikipedia.org)
  • NCBI EST profiles have shown differential expression across many tissues but increased levels in the human testes and pharynx. (wikipedia.org)
  • NCBI (National Center for Biotechnology Information) entry on FAM71F2 [https://www.ncbi.nlm.nih.gov/gene/Database, GeneCards Human Gene. (wikipedia.org)
  • DNA dating: How molecular clocks are refining human evolution's timeline by Bridget Alex and Priya Moorjani, The Conversation , 7 April 2017. (isogg.org)