In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
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.
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.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
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)
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
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.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Aberrant chromosomes with no ends, i.e., circular.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
A 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.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
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.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
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).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A 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.
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.
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.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
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)
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.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
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.
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.
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.
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.
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).
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.
Genetic loci associated with a QUANTITATIVE TRAIT.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.
An aberration in which an extra chromosome or a chromosomal segment is made.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
An individual having different alleles at one or more loci regarding a specific character.
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)
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)
Genotypic differences observed among individuals in a population.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The 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.
The process by which a DNA molecule is duplicated.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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.
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.
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.
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.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
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.
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.
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.
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.
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).
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.
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.
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.
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)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
The relationships of groups of organisms as reflected by their genetic makeup.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
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.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
Established cell cultures that have the potential to propagate indefinitely.
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.
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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
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 that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
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 that influence the PHENOTYPE only in the homozygous state.
The functional hereditary units of BACTERIA.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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.
An individual in which both alleles at a given locus are identical.
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).
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
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.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The degree of replication of the chromosome set in the karyotype.
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.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.
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.
Deoxyribonucleic acid that makes up the genetic material of fungi.
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)
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 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 present in neoplastic tissue.
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.
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.
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)
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.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Deoxyribonucleic acid that makes up the genetic material of plants.
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.
Proteins found in any species of bacterium.
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 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.
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.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
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.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
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 that are located on the Y CHROMOSOME.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
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).
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deletion of sequences of nucleic acids from the genetic material of an individual.

Interactions between Tat and TAR and human immunodeficiency virus replication are facilitated by human cyclin T1 but not cyclins T2a or T2b. (1/852)

The transcriptional transactivator (Tat) from the human immunodeficiency virus (HIV) does not function efficiently in Chinese hamster ovary (CHO) cells. Only somatic cell hybrids between CHO and human cells and CHO cells containing human chromosome 12 (CHO12) support high levels of Tat transactivation. This restriction was mapped to interactions between Tat and TAR. Recently, human cyclin T1 was found to increase the binding of Tat to TAR and levels of Tat transactivation in rodent cells. By combining individually with CDK9, cyclin T1 or related cyclins T2a and T2b form distinct positive transcription elongation factor b (P-TEFb) complexes. In this report, we found that of these three cyclins, only cyclin T1 is encoded on human chromosome 12 and is responsible for its effects in CHO cells. Moreover, only human cyclin T1, not mouse cyclin T1 or human cyclins T2a or T2b, supported interactions between Tat and TAR in vitro. Finally, after introducing appropriate receptors and human cyclin T1 into CHO cells, they became permissive for infection by and replication of HIV.  (+info)

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (2/852)

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing.  (+info)

Unique forms of human and mouse nuclear receptor corepressor SMRT. (3/852)

Nuclear hormone receptors have been shown to repress transcription in the absence of ligand. This repression is mediated by a corepressor complex that contains the Sin3A protein and histone deacetylases (HDAC1 and 2). Studies by several groups demonstrate that this complex is recruited to nuclear receptors through the highly related corepressors SMRT (silencing mediator of retinoid acid and thyroid hormone receptor) and N-CoR (nuclear receptor corepressor). We describe here the cloning, characterization, and chromosomal mapping of forms of human and mouse SMRT that includes a 1,000-aa extension, which reveals striking homology to the amino terminus of N-CoR. Structure and function studies of wild-type and natural splicing variants suggest the presence of 3-4 amino terminal domains that repress in a cooperative as well as mechanistically distinct fashion.  (+info)

Structure and chromosomal assignment of the human lectin-like oxidized low-density-lipoprotein receptor-1 (LOX-1) gene. (4/852)

We have reported the cDNA cloning of a modified low-density-lipoprotein (LDL) receptor, designated lectin-like oxidized LDL receptor-1 (LOX-1), which is postulated to be involved in endothelial dysfunction and the pathogenesis of atherosclerosis. Here, we determined the organization of the human LOX-1 gene, including the 5'-regulatory region. The 5'-regulatory region contained several potential cis-regulatory elements, such as GATA-2 binding element, c-ets-1 binding element, 12-O-tetradecanoylphorbol 13-acetate-responsive element and shear-stress-responsive elements, which may mediate the endothelium-specific and inducible expression of LOX-1. The major transcription-initiation site was found to be located 29 nucleotides downstream of the TATA box and 61 nucleotides upstream from the translation-initiation codon. The minor initiation site was found to be 5 bp downstream from the major site. Most of the promoter activity of the LOX-1 gene was ascribed to the region (-150 to -90) containing the GC and CAAT boxes. The coding sequence was divided into 6 exons by 5 introns. The first 3 exons corresponded to the different functional domains of the protein (cytoplasmic, transmembrane and neck domains), and the residual 3 exons encoded the carbohydrate-recognition domain similar to the case of other C-type lectin genes. The LOX-1 gene was a single-copy gene and assigned to the p12.3-p13.2 region of chromosome 12. Since the locus for a familial hypertension has been mapped to the overlapping region, LOX-1 might be the gene responsible for the hypertension.  (+info)

Evaluation of trisomy 12 by fluorescence in situ hybridization in peripheral blood, bone marrow and lymph nodes of patients with B-cell chronic lymphocytic leukemia. (5/852)

BACKGROUND AND OBJECTIVE: Trisomy 12 is the most common numerical chromosomal aberration in patients with B-cell chronic lymphocytic leukemia (B-CLL). Fluorescence in situ hybridization (FISH) has improved the detection of this cytogenetic abnormality and has made detection possible in all phases of the cell cycle. The presence of the trisomy 12 positive (+12) cell population has generally been investigated in leukemic cells obtained from the peripheral blood of CLL patients. To ascertain whether trisomy 12 is expressed homogeneously in cells of different hemopoietic tissues, we applied FISH to lymph node, peripheral blood and bone marrow samples obtained simultaneously from 23 untreated B-CLL patients. DESIGN AND METHODS: Twenty-three newly diagnosed patients with B-CLL, 15 in stage B and 8 in stage C, were included in the present study. Peripheral blood smears, bone marrow aspirate smears and lymph node touch imprints were collected from each patient at diagnosis. Cytologic preparations were examined by light microscopy in order to assess the lymphocyte morphology. Immunophenotyping was performed by cytofluorimetric analysis of the peripheral blood, bone marrow and lymph node mononuclear cell suspensions. The diagnosis was supported in all cases by histologic findings in bone marrow biopsy and lymph node biopsy specimens. Fluorescence in situ hybridization was performed on smears of blood and aspirated bone-marrow and lymph node touch imprints obtained by fresh tissue apposition. RESULTS: In 6 of the 23 cases (26%) trisomy 12 was clearly present in all tissues examined. A comparative analysis of the three different hemopoietic tissues was performed. A higher percentage of leukemic CD5+CD23+ cells was detected in lymph nodes than in peripheral blood and bone marrow. A significantly higher proportion of trisomic cells was observed in lymph nodes samples than in peripheral blood or bone marrow smears of trisomy 12 positive CLL patients. INTERPRETATION AND CONCLUSIONS: Several previous reports show that only a proportion of malignant B-CLL cells carry trisomy 12 when analyzed by interphase FISH. The higher proportion of +12 cells in lymph nodes than in peripheral blood or bone marrow of CLL patients with trisomy 12 could reflect different cell distributions in different tissues, or lymph node specific tropism, or proliferative advantage in selected tissue. At present, the role of trisomy 12 in the pathogenesis of lymphoproliferative disorders is unclear.  (+info)

Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr-15. (6/852)

Four recent genome-wide screen studies in multiple sclerosis (MS) identified a number of candidate regions for susceptibility genes in addition to the HLA complex in 6p21. However, none of these regions provided formally significant evidence for genome-wide linkage. We have investigated such regions in 46 Swedish multiplex MS families, 28 singleton families, 190 sporadic MS patients and 148 normal controls by parametric and nonparametric linkage and association analysis. One microsatellite marker, in 12q23, provided evidence for association in addition to suggestive transmission distortion and slightly positive linkage. In addition, a marker in 7ptr-15 showed a significant transmission distortion as well as a highly significant score in affected pedigree member analysis, but not quite significant deviations in association analysis. One of three markers in 5p, a region implicated in all four previous studies, showed a weakly positive lod score, but no other evidence of importance. Markers in 2p23, 5q11-13, 6q25, 7q21-22, 11q21-23, 13q33-34, 16p13.2, 18p11.32-23, Xp21.3 provided little or no evidence of importance for MS. In summary, these data support the importance of genome-wide screens in the identification of new candidate loci in polygenic disorders.  (+info)

Structural organization and splice variants of the POLE1 gene encoding the catalytic subunit of human DNA polymerase epsilon. (7/852)

The catalytic subunit of human DNA polymerase epsilon, an enzyme involved in nuclear DNA replication and repair, is encoded by the POLE1 gene. This gene is composed of 51 exons spanning at least 97 kb of genomic DNA. It was found to encode three alternative mRNA splice variants that differ in their 5'-terminal sequences and in the N-termini of the predicted proteins. A CpG island covers the promoter region for the major transcript in HeLa cells. This promoter is TATA-less and contains several putative binding sites for transcription factors typical of S-phase-up-regulated and serum-responsive promoters. Potential promoter regions were also identified for the two other alternative transcripts. Interestingly, no nuclear polyadenylation signal sequence was detected in the 3'-untranslated region, although a poly(A) tail was present. These results suggest a complicated regulatory machinery for the expression of the human POLE1 gene, including three alternative transcripts expressed from three promoters.  (+info)

Pathogenesis of testicular germ cell tumours. (8/852)

Human germ cell tumours comprise a heterogeneous group of neoplasms. In the testis, three entities are distinguished, the teratomas-yolk sac tumours of the infantile testis, the seminomas and nonseminomas of adolescents and adults, and the spermatocytic seminomas. Studies on epidemiology, histology, clinical behaviour, and chromosomal constitution of these tumours support the concept of distinct entities derived from germ cells but each with a different pathogenesis. Either the teratomas of the infantile testis show no chromosomal aberrations, or display a pattern of over- and under-representation of (parts of) chromosomes as detected in the yolk sac tumours of the infantile testis. In contrast, the seminomas and nonseminomas reveal a consistent pattern of losses and gains, that is, chromosomes 11, 13 and 18, and 7, 8 and X, respectively, that is different from that found in the infantile testis teratomas and yolk sac tumours. The most consistent structural chromosomal abnormality is an isochromosome 12p. Tumours lacking i(12p) have other structural abnormalities of 12p, among them amplification of 12p11.2-p12.1. The pathogenetically relevant genes on 12p11.2-p12.1 are probably on a fragment of about 1.7 mb. Gain of 12p sequences may be related to invasive growth. Gain of chromosome 9 is the only consistent chromosomal anomaly of spermatocytic seminomas. Infantile teratomas and spermatocytic seminomas are benign tumours. Infantile yolk sac tumour is a malignant germ cell tumour. Seminomas and nonseminomas are malignant, and the most common cancer in young Caucasian males. The cure rate of seminomas and non-seminomas with radio- and chemotherapy is over 90%, which is higher than that of any other solid cancer in adults. In addition, the precursor lesions of these tumours can be treated readily, justifying efforts to develop means for early diagnosis. Finally, the pathogenetic relationship between seminomas and nonseminomas, and the available animal models for the three groups of testicular germ cell tumours are discussed.  (+info)

Web site dedicated to the Pallister-Killian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di Pallister-Killian.
Dr. Fricke responded: PKS is from a genet-. ic accident that leads to the fetus having usually 2 extra copies of genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It can impact all organ systems & cause profound Intellectual Disability, atypical facial features & abnormal hair growth pattern. See for the PKS support page of the organization Unique.
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The ketone XIII, obtained by Friedel-Crafts reaction of toluene with homoveratroyl chloride, was converted by the Leuckart reaction to the formamido derivative IXb which was used as the starting product for the synthesis of amines IIIb-Vb. Reduction of the ketone XIII gave the alcohol XVI which was treated with hydrogen chloride and afforded the chloro compound XVII. Its substitution reactions with 1-methylpiperazine, 1-(2-hydroxyethyl)piperazine and 1-phenylpiperazine resulted in the piperazines VIb-VIIIb. Acylations of the amine IIIb with acetic anhydride and homoveratroyl chloride gave the amides Xb and XIb which, together with the formamide IXb, were subjected to the Bischler-Napieralski reaction. 3,4-Dihydroisoquinolines XXII-XXIV were obtained and reduced to the 1,2,3,4-tetrahydroisoquinolines XXVb-XXVIIb. Treatment of XXVIIb with formaldehyde afforded the berbine derivative XXVIII. Demethylation of the amine IIIb with hydrobromic acid resulted in the title compound IIIa. Similar ...
article{e4545f11-fcca-422e-8307-a31e151cdeb0, abstract = {To ascertain the epigenomic features, i.e., the methylation, non-coding RNA, and gene expression patterns, associated with gain of i(12p) in Pallister-Killian syndrome (PKS), we investigated single cell clones, harboring either disomy 12 or tetrasomy 12p, from a patient with PKS. The i(12p)-positive cells displayed a characteristic expression and methylation signature. Of all the genes on 12p, 13% were overexpressed, including the ATN1, COPS7A, and NECAP1 genes in 12p13.31, a region previously implicated in PKS. However, the median expression fold change (1.3) on 12p was lower than expected by tetrasomy 12p. Thus, partial dosage compensation occurs in cells with i(12p). The majority (89%) of the significantly deregulated genes were not situated on 12p, indicating that global perturbation of gene expression is a key pathogenetic event in PKS. Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant ...
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.. Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition.. Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as coarse. Characteristic ...
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Answers to FAQs from patients, which will answer any questions that they have. Dr. Stavros Alevrogiannis - MD-Msc-PhD, Tel. Contact: 2107786868.
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點解唔去搵一個適合自己既中醫教養生方法,學調理? 現在女性久坐不動,而且生活習慣不佳,我們眼中的女性調理,便是為她們找出適合她們自身體質的藥方,幫助她們順應四季,是謂《調理》,也是《養生》。
點解唔去搵一個適合自己既中醫教養生方法,學調理? 現在女性久坐不動,而且生活習慣不佳,我們眼中的女性調理,便是為她們找出適合她們自身體質的藥方,幫助她們順應四季,是謂《調理》,也是《養生》。
手腳扭傷,撞瘀手腳當然去睇跌打,去理療中心敷藥。由跌打師傅斷症後,配合推拿手法進行跌打程序,才可以把握保健黃金的時間將痛楚減到最低。跌打幾耐先會好?治療得當,最快一帖跌打藥膏,24小時內便可以康復了。 但是,找趺打師傅太心急的話,容易忽略以下10件事,導致身體情況惡化!下次看跌打/鐵打前,記得停一停,諗一諗!....
跌打中醫整脊正骨復位針灸拔罐痛症治療中心 - 中元堂(旺角醫舘)整脊正骨復位痛症治療中心介紹 │中元堂,不少香港人深受身體痛症困擾,本中心是一間專業痛症治療中心,提供即時痛症舒緩,骨傷正骨復位服務,即是以前稱之為【跌打】,俗稱鐵打的手法推拿理療。 常見痛症例如突然跌傷,拉傷,常見的筋骨扭傷,骨傷,舊患,長期腰痛,腰膝蓋踝勞損,腰椎間盤痛等等的痛症,推拿手法可以針對酸痛紅腫的部份處理,即時消腫止痛,幫助恢復健康。長期因為姿勢不良,運動外傷,先天遺傳等等的骨骼移位,可能自己不先知,建議以正骨手法及早糾正,傷勢嚴重不能走動者可以預約【跌打夜診】服務。本中心服務如下:骨傷手法理療(俗稱跌打)正骨復位痛症治療拔罐針灸
椎間盤突出,非椎間盤突出導致的腰背部,頸部疼痛,坐骨神經痛,尾椎小關節綜合症,椎管狹窄症,脊椎側彎,姿勢不良,背部手術失敗症,頭痛,頸痛,肩週炎,腰背痛,脊柱側彎症,坐骨神經痛,膝痛,足踝痛,腳痛,骨刺,手腳麻痺,運動創傷,職業性損傷. 觀塘 ...
針法是把毫針刺入患者身體某一穴位,運用捻轉與提插等針刺手法來治療疾病;灸法是把燃燒著的艾絨按一定穴位熏灼皮膚,利用熱的刺激來治療疾病。針灸由針和灸構成,是中醫學的重要組成部分之一,其內容包括針灸理論、腧穴、針灸技術以及相關器具。在形成、應用和發展的過程中,具有鮮明的中國民族文化與地域特徵,是基於中國民族文化和科學傳統產生的寶貴遺產。中醫針灸的作用涉及到中醫針灸調節內分泌、愛民中醫針灸減肥等具體領域。. 中醫拔罐療法又稱角法,拔罐通過物理的刺激和負壓人為造成毛細血管破裂淤血,調動人體修復功能,及壞死血細胞吸收功能,能促進血液循環,激發精氣,調理氣血,達到提高和調節人體免疫力的作用。. ...
你知道為什麼中國人有睇【跌打】的習慣嗎?【跌打】,又俗稱鐵打,是中國傳統中醫的其中一種利用跌打藥,跌打藥粉,跌打敷藥,加上中醫推拿的治療方法。優點是以推拿按摩手法而促進康復,藥帖直接接觸外皮,所以見效快,大部份時候不須要食藥,而且不需要以手術界入便可康復。 ...
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In this article, we will share on a rare form of congenital cataract known as cerulean cataract.. Cerulean cataract (also known as blue-dot cataract) occurs where there are blue-white opacities in the lens cortex (middle layer of the lens). It can develop during childhood or occur at birth (congenital). The cause of cerulean cataract is due to mutation of several genes. It is of autosomal dominant inheritance (i.e. an affected individual has a copy of the mutant gene and a normal gene on a pair of non-sex chromosomes). The cataract can develop in 1 or both eyes and is progressive. Visual acuity is well-preserved, and surgery is usually not required before adult life.. Infants with cerulean cataract may be asymptomatic depending on the severity of the opacities. If severe, complications such as nystagmus (rapid involuntary movement of the eyes) and amblyopia (lazy eye) can develop. Both male and female can be equally affected. Family history of congenital cataract is one of the risk ...
TY - JOUR. T1 - The phenotypic spectrum of trisomy 2. T2 - Report of two new cases. AU - Mihci, Ercan. AU - Velagaleti, Gopalrao V.N.. AU - Ensenauer, Regina. AU - Babovic-Vuksanovic, Dusica. PY - 2009/10/1. Y1 - 2009/10/1. N2 - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. AB - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. KW - ...
Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin. Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series,
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Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis ...
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14-year-old Argentine-American songwriter Pilar Victoria has shared her brand new single I Left A Party For You today. The new track arrives via Platoon today with an official video and is taken from Pilars debut EP, expected early next year. Victoria is far from your average 14-year-old.
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Although I wrote these notes down, they are not my words but the words of various art professors who will remain nameless, because I cannot recall who said what during various art classes from years ago. Neither can I remember what I might have thought at the time that these words were being spoken, but I did indeed write them down perhaps because I thought them valid, or because I thought them odd. Who knows? What I do know is that as I looked through them today, I found some to be rather narrow-minded, but amusing nevertheless ...
Naughty is the manifestation of a poem I originally composed from a collage of Spanish words (some Mexicanismos). I found the words appealing for their crispness, i.e., cachivaches, cuchicheo, berrinches, chiflada, chiflete, metiche, etc. An audio track with the poem read in Spanish (in doll-voice) is part of the interactive piece. The poem was loosely translated to English and written on Naughtys face to convey the essence of her tale ...
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Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 12: entries, gene ... The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches to ...
The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... There is only one paralog for CCDC37 found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ... "CCDC38 coiled-coil domain containing 38 [Homo sapiens (human)] - Gene". Retrieved 2015-03-07. Dinkel, H. The ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector ... Cosmid End-sequence profiling Fosmid Human artificial chromosome Secondary chromosome Yeast artificial chromosome O'Connor M, ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ...
... six pairs) of chromosomes, i.e. 2n = 12. The draft genome and transcriptomes were 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 ...
This is roughly a quarter of the size of the human genome, which has about 3 billion base pairs. Gernika Oak Knopper gall Oak ... Jays were overwhelmingly the primary propagators of oaks before humans began planting them commercially (and still remain the ... Quercus robur is a large deciduous tree, with circumference of grand oaks from 4 metres (13 feet) to an exceptional 12 m (39 ft ... Retrieved 2018-03-12. Smith, Steve. "The National Inventory of Woodland and Trees - England" (PDF). UK: Forestry Commission. ...
"Homologous expressed genes in the human sex chromosome pairing region". Nature. 317 (6039): 739-41. Bibcode:1985Natur.317..739B ... 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. ... Genes on human chromosome X, Clusters of differentiation). ... Unusually for a gene present on the X chromosome, the CD99 gene ...
In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the canonical isoform that is transcribed ... into an mRNA of 2797 base pairs. Three other isoforms have been isolated. Homologs exist as distant as the green sea turtle and ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Chromosomes, Protein ... The human C12orf40 protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric ...
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 alike. The primary difference is that humans have one fewer pair of chromosomes than ... Wikiversity has learning resources about Chimpanzee Genome Project Human evolutionary genetics Human chromosome 2 Human Genome ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known ... C11orf86 is located on the long arm of chromosome 11 at 11q13.2. It consists of 1732 base pairs, and is found on the plus ... "C11orf86 chromosome 11 open reading frame 86 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2016-05-09 ... The transcript used for this article is made up of two exons, amounting to 1185 base pairs, and has the reference number NM_ ...
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Wikipedia articles ... Homeobox protein DBX2, also known as developing brain homeobox protein 2, is a protein that in humans is encoded by the DBX2 ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 12 gene stubs). ... DBX2 is located on chromosome 12 and is approximately 36,000 base pairs long. DBX2 is predicted to enable DNA-binding ...
The human β-dystrobrevin gene was localized to the short arm of chromosome 2. Pair-wise comparison between α- and β- ... Genes on human chromosome 18, Genes on human chromosome 2). ... The human α-dystrobrevin gene is localized to chromosome 18 and ... In human, the Duchenne muscular dystrophy is a well-known muscle disease which highlights the importance of dystrophin/ ... In humans, there are at least two isoforms of dystrobrevin, dystrobrevin alpha and dystrobrevin beta. Dystrobrevins are members ...
The human ERBB3 gene is located on the long arm of chromosome 12 (12q13). It is encoded by 23,651 base pairs and translates ... During human development, ERBB3 is expressed in skin, bone, muscle, nervous system, heart, lungs, and intestinal epithelium. ... Receptor tyrosine-protein kinase erbB-3, also known as HER3 (human epidermal growth factor receptor 3), is a membrane bound ... ERBB3 is expressed in normal adult human gastrointestinal tract, reproductive system, skin, nervous system, urinary tract, and ...
The gene paralog FAM71F1 and the gene LINC01000 directly neighbor FAM71F2 on chromosome 7. The gene spans 30,627 base pairs and ... FAM71F2 gene is located on chromosome 7 in humans (7q32.1), starting at 128,671,636 and ending at 128,702,262 on the positive ... The time of divergence between eight orthologs from the human FAM71F2 is shown in Figure 5. It is not found in birds or in ... Isoform a is the longest of the mRNA transcripts and spans 5,775 base pairs that translates into a 309 amino acids sequence. It ...
Genes on human chromosome 1, All articles with unsourced statements, Articles with unsourced statements from January 2021, ... The mouse gene has two exons (100 and 1064 nucleotides in length), separated by a 461 base pair intron. In the mouse DARC is ... is located on the long arm of chromosome 1 (1.q22-1.q23) and was cloned in 1993. The gene was first localised to chromosome 1 ... DARC+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ...
The CTNS gene is located on the p arm of human chromosome 17, at position 13.2. It spans base pairs 3,636,468 and 3,661,542, ... Human models for cystinosin are typically derived from cystinotic renal tubular cell lines. Non-human protein homologs for ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17). ... The most common mutation is a 57,257 base pair deletion commonly referred to as the 57 kb deletion. This was formally known as ...
The 48-base pair VNTR has been the subject of much speculation about its evolution and role in human behaviors cross-culturally ... The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5. There are slight variations (mutations/ ... polymorphisms) in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to ... Genes on human chromosome 11, Wikipedia articles needing clarification from December 2018, Wikipedia articles incorporating ...
... variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ... "C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2017-02-25 ...
Partial monosomy occurs when a portion of one chromosome in a pair is missing. Human conditions due to monosomy: Turner ... Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair. ... People with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only ... a partial monosomy caused by a deletion of the end of the short arm of chromosome 5 1p36 deletion syndrome - a partial monosomy ...
Genes on human chromosome 12, Proteins). ... The mRNA transcript of SMCO3 is 2,104 base pair long. There are ... The promoter region of SMCO3 is 1,100 base pairs long and begins 961 base pairs upstream of the 5' UTR with the end of the ... Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene. ... The amino acid sequence of SMCO3 is highly conserved compared to other human proteins. There is dramatically lower levels of ...
... is a protein in humans that is encoded by the chromosome 4 open reading frame 47 (c4orf47) gene. The c4orf47 gene is ... positioned at 4q35.1 on the plus strand and spans 44,602 base pairs in length (185,405,227...185,449,828). The gene is made up ... Retrieved 4 October 2021.{{cite web}}: CS1 maint: url-status (link) "C4orf47 chromosome 4 open reading frame 47 [Homo sapiens ( ... 2 July 2021.{{cite journal}}: CS1 maint: url-status (link) "Homo sapiens chromosome 4 open reading frame 47 (C4orf47), ...
Parthenogenesis appears to involve initial meiotic chromosome pairing. During both cyclic and obligate parthenogenesis a polar ... Its genome contains 31,000 genes - 8,000 more than are present in the human genome - as a result of extensive gene duplication ... It bears the mouthparts, and two pairs of antennae, the second pair of which is enlarged into powerful organs used for swimming ... It can only be recognised by its appendages (only ever one pair per segment), and by studying its internal anatomy. The head is ...
Chromosome 15 open reading frame 52 is a human protein encoded by the C15orf52 gene, its function is poorly understood. ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ... Glycine and Arginine were found at higher frequencies than other proteins in humans. The isoelectric point of the protein is ...
Source attribution, Articles with imported freely licensed text, Genes on human chromosome 12, Wikipedia articles incorporating ... The SLC25A3 gene is located on the q arm of chromosome 12 in position 23.1 and spans 8,376 base pairs. The gene has 9 exons and ... Phosphate carrier protein, mitochondrial is a protein that in humans is encoded by the SLC25A3 gene. The encoded protein is a ... Huizing M, Ruitenbeek W, van den Heuvel LP, Dolce V, Iacobazzi V, Smeitink JA, Palmieri F, Trijbels JM (June 1998). "Human ...
... is a protein that in human is encoded by the C1orf159 gene located on chromosome 1. This gene is also found to be an ... The gene is 34,247 base pairs in length, located at Chromosome 1 position 1,081,818 to 1,116,089 on the reverse strand. The ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 1, All articles with ... The isoelectric point of the human C1orf159 protein is 10.07, which is more basic than the average human proteomic protein pI ...
Aldehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH2 gene located on chromosome 12. This ... Portal: Biology (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 12, ... ALDH2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Human ALDH2 genome location and ... "The structural gene for the mitochondrial aldehyde dehydrogenase maps to human chromosome 12". Hum. Genet. 73 (4): 365-7. doi: ...
... genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup molecular phylogeny Paragroup Subclade Y-chromosome ... Cox MP, Mirazón Lahr M (January 2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... Haplogroup O, also known as O-M175, is a human Y-chromosome DNA haplogroup. It is primarily found among populations in ... "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The American ...
v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 12, All stub ... Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core ... Histone H2A.J is a protein that in humans is encoded by the H2AFJ gene. Histones are basic nuclear proteins that are ... This gene is located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to ...
Animals Plants Other Eukaryotes Karyotype of a human being. It shows 22 homologous autosomal chromosome pairs, both the female ... Stebbins GL (1950). "Chapter XII: The Karyotype". Variation and evolution in plants. Columbia University Press. King RC, ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the result of the merging ... "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics. 89 (2): 247-9. doi:10.1007/ ...
... was mapped to human chromosome 12: 26,120,026-26-125-127 reverse strand and has a total length of 5,101 base pairs. The ... BHLHE41-001 contains 5 coding exons, has a transcript length of 3,837 base pairs, and encodes the 482 amino acid BHLHE41 ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Wikipedia articles ... Human BHLHE41 genome location and BHLHE41 gene details page in the UCSC Genome Browser. This article incorporates text from the ...
Genes on human chromosome 17, Protein pages needing a picture, Human gene pages with Wikidata item, All stub articles, Human ... The gene has a size of 5961 base pairs and contains five exons. PRR29 is located on the long arm of chromosome 17 (17q23.3), ... "C21orf58 chromosome 21 open reading frame 58 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2016-04-28 ... PRR29 (proline-rich protein 29) is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23. Its ...
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... In Salmonella typhimurium, a new pair of antiparallel β-sheets is created and five new interatomic contacts are formed in the ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ...
... is caused by mutations in both copies of the CENPF gene, located on the long arm of chromosome 1. CENPF codes ... They are made by the centrosome, which contains a pair of cylindrical centrioles at right-angles to each other. Before division ... Badano JL, Mitsuma N, Beales PL, Katsanis N (1 September 2006). "The ciliopathies: an emerging class of human genetic disorders ... Filges I, Stromme P (January 2020). "CUGC for Stromme syndrome and CENPF-related disorders". European Journal of Human Genetics ...
Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ...
Biologists have found that sex chromosomes in plants originated from pairs of autosomes. As these chromosomes diverge from ... The system for determining sex in Silene latifolia is close to that found in humans because in both cases the Y chromosome ... In the case of Silene, the pair of automsomal chromosomes are transformed into heteromorphic sex-determining chromosomes ... pair during female meiosis. Contrastingly, recombination is suppressed across most of the Y chromosomes during pairing in male ...
number of base pairs = mass in pg × 9.78 × 10 8 {\displaystyle {\text{number of base pairs}}={\text{mass in pg}}\times 9.78\ ... These species have become a considerable threat to human health, as they are often capable of evading human immune systems and ... I. DNA-content and chromosome sets in various species of Cyprinidae". Humangenetik. 7 (3): 240-244. doi:10.1007/BF00273173. ... or as the total number of nucleotide base pairs, usually in megabases (millions of base pairs, abbreviated Mb or Mbp). One ...
It has 2 pairs of petals, 3 large sepals (outer petals), known as the 'falls' and 3 inner, smaller petals (or tepals, known as ... It has a chromosome count: 2n=20. It was also counted as 2n=22, 44 by (Zahareva and Makeushenko 1968) and (Fedorov 1969). It is ... Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen ... As most irises are diploid, having two sets of chromosomes. This can be used to identify hybrids and classification of ...
"Gene promoters show chromosome-specificity and reveal chromosome territories in humans". BMC Genomics. 14 (278): 278. doi: ... These pairs of promoters can be positioned in divergent, tandem, and convergent directions. They can also be regulated by ... Furthermore, in humans, promoters show certain structural features characteristic for each chromosome. In bacteria, the ... "Prevalence of the initiator over the TATA box in human and yeast genes and identification of DNA motifs enriched in human TATA- ...
Genes on human chromosome 9). ... It has a length of 750 base pairs. The transcription start site ... The promoter for TTC39B starts at base pair 15,307,109 and ends at base pair 15,307,858. ... The gene for TTC39B is located on the short arm of the ninth chromosome at 9p22.3. The genomic DNA is 136,517 bases long, ... On a locus on chromosome 9p22 found to be associated with high-density lipoprotein (HDL-C), TTC39B was the only one of several ...
This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals ... Human mitochondrial DNA was the first significant part of the human genome to be sequenced. ...
"The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Annals of Human Genetics. 58 (1): 25-34. ... Many individuals with ZTTK syndrome have identified heterozygosity for a de novo 4-base pair deletion, de novo mutation in exon ... and CRF2-4 genes cluster on human Chromosome 21 and mouse Chromosome 16". Mammalian Genome. 4 (6): 338-342. doi:10.1007/ ... Human embryonic stem cells (hESCs) are able to undergo lineage-specific differentiation into specific types of cells, known as ...
During the process of mitosis the pairs of chromosomes condense and attach to microtubules that pull the sister chromatids to ... Many human cancers possess the hyper-activated Cdk 4/6 activities. Given the observations of cyclin D-Cdk 4/6 functions, ... Cell Cycle, Chromosomes and Cancer. Vol. 15. Miami Beach, FL: University of Miami School of Medicine. Alter O, Golub GH ( ... In this checkpoint, the cell checks to ensure that the spindle has formed and that all of the chromosomes are aligned at the ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, All articles with unsourced ... Martinet L, Smyth MJ (April 2015). "Balancing natural killer cell activation through paired receptors". Nature Reviews. ... Human chromosome 3 gene stubs, Wikipedia articles incorporating text from the United States National Library of Medicine). ... CD96 (Cluster of Differentiation 96) or Tactile (T cell activation, increased late expression) is a protein that in humans is ...
For this sample, a better estimate would be that 95% of the base pairs are exactly shared between chimpanzee and human DNA." ... April 2015). "A recent bottleneck of Y chromosome diversity coincides with a global change in culture". Genome Research. 25 (4 ... Evolutionary biology portal Evolution of human intelligence Graphical timeline of the universe Human evolution Recent human ... The timeline of human evolution outlines the major events in the evolutionary lineage of the modern human species, Homo sapiens ...
The paper examined the global distribution of SINEs in mouse and human chromosomes and determined that this distribution was ... SINEs have 50-500 base pair internal regions which contain a tRNA-derived segment with A and B boxes that serve as an internal ... often leading to disease phenotypes in humans and other animals. Insertion of Alu elements in the human genome is associated ... There are >50 human diseases associated with SINEs. When inserted near or within the exon, SINEs can cause improper splicing, ...
There are no known paralogs of this gene in humans. "C17orf78 chromosome 17 open reading frame 78 [Homo sapiens (human)] - Gene ... Isoform 1 is encoded by a mRNA sequence that is 1920 base pairs in length. Isoform 2 derives from a mRNA sequence of 1678 base ... The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The ... C17orf78 (Chromosome 17 Open Reading Frame 78) is found on the long arm cytogenetic band 17q12. The genomic sequence spans from ...
The human LECT2 gene, LECT2, is located on the long, i.e, "q", arm of chromosome 5 at position q31.1 (notated as 5q31.1). This ... Human LECT2 is composed of 4 exons, 3 introns, and ~8,000 base pairs. The gene has numerous single nucleotide variants as well ... 2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268-74. doi:10.1038/nature02919. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 5). ...
... univalens has one pair of chromosomes and P. equorum has two pairs. However, new genomic research suggests that both Parascaris ... These worms are host-specific to equines and cannot infect humans or other animals. P. univalens is a model organism for ... The species are distinguished by the number of chromosomes. Karyotyping is the only way to differentiate between the two: P. ... Both species are model organisms for chromosome organization and cell division. The species is yellow-white in color, with ...
All of these genes are located in histone cluster 1 on chromosome 6 and cluster 2 and cluster 3 on chromosome 1. In each gene ... There are sixteen variants of histone H2B found in humans, thirteen of which are expressed in regular body cells and three of ... DNA is then wrapped around the entire nucleosome in groups of approximately 160 base pairs of DNA. The wrapping continues until ... It plays an important role in the biology of the nucleus where it is involved in the packaging and maintaining of chromosomes, ...
Genes on human chromosome 17, Keratins, All stub articles, Human chromosome 17 gene stubs). ... Keratin 16 is a protein that in humans is encoded by the KRT16 gene. Keratin 16 is a type I cytokeratin. It is paired with ... "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722-36. doi: ... "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenet. Cell Genet. 57 (1): 33- ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences ... Thus, the likelihood of deleterious recessive alleles to pair is significantly higher in a small inbreeding population than in ... ISBN 978-3-540-37654-5. Ober C, Hyslop T, Hauck WW (January 1999). "Inbreeding effects on fertility in humans: evidence for ...
Genes on human chromosome 2, Protein pages needing a picture, Genes on human chromosome 15, Genes on human chromosome 20, Genes ... The lone pair of electrons moves down kicking off the lone pairs that were making the double bond. This lone pair of electrons ... Mtb ICDH-1 is most structurally similar to the R132H mutant human ICDH found in glioblastomas. Similar to human R132H ICDH, Mtb ... In humans, IDH exists in three isoforms: IDH3 catalyzes the third step of the citric acid cycle while converting NAD+ to NADH ...
The two pairs of membranous wings are held together by small hooks and the forewings are larger than the hind ones; in some ... Males, called drones, have a haploid (n) number of chromosomes and develop from an unfertilized egg. Wasps store sperm inside ... the existing workers search for sugary foods and are more likely to come into contact with humans. Wasp nests made in or near ... Females are diploid, meaning that they have 2n chromosomes and develop from fertilized eggs. ...
Genes on human chromosome 3, Protein pages needing a picture, Human gene pages with Wikidata item). ... C3orf62 starts at 49,268,597 base pairs from the terminus of the short arm (pter) and ending at 49,277,909 base pairs pter. ... Chromosome 3 Open Reading Frame 62 (C3orf62), is a protein that in humans is encoded by the C3orf62 gene. C3orf62 is a glycine ... C3orf62 human protein (Q6ZUJ4) is 267 amino acids long, and has a molecular mass of 30,194 Daltons. The isoelectric point of ...
This breakthrough helped further relate OCD in humans to CCD in canines. Canine chromosome 7 is expressed in the hippocampus of ... Rats became significantly more tolerant to morphine when they had been exposed to a paired administration than those rats that ... A chromosome has been located in dogs that confers a high risk of susceptibility to OCD. Canine chromosome 7 has been found to ... It can be difficult to attribute human conditions to non-human animals. Obsessive-compulsive behavior in animals, often called ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... CS1 French-language sources (fr), CS1 German-language sources (de), Human MHC haplogroups, Human MHC mediated diseases, Human ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ...
These paired genes that control the same trait is classified as an allele. In an individual, the allelic genes that are ... Genes are a fundamental part of DNA that is aligned linearly on a eukaryotic chromosome. Chemical information that is ... human genetics, medical genetics, and much more. Thus, reinforcing Mendel's nickname as the father of modern genetics. In other ... Many pairs of alleles have differing effects that are portrayed in an offspring's phenotype and genotype. The phenotype is a ...
For example, probes may be designed to target various regions of chromosome 21 of a human cell. The signal strengths of the ... Pairs of probes are hybridized to the sample DNA, with each probe pair designed to query for the presence of a particular DNA ... to give the PCR product a unique length when compared to other probe pairs in the MLPA assay. Each complete probe pair must ... Although dosage quotients may be calculated for any pair of amplicons, it is usually the case that one of the pair is an ...
Weak identity between chromosomes results in meiotic pairing that yields only two possible genotypes of sperm, X1X2X3X4X5 or ... This similarity to primates and humans allows it to see distant objects clearly. Unlike placental mammals, including humans, ... Memoirs of the Australian Museum 6: i-xii, 1-122 "ADW: Tachyglossus: Classification". Retrieved ... for humans. This part of the brain in humans is thought to be used for planning and analytical behaviour, leading to debate as ...
For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information ... of the Y chromosome during meiosis. Additionally, 10-25% of human X chromosome genes, and 3-7% of mouse X chromosome genes ... Specifically, platypus X1 shares homology with the chicken Z chromosome, and both share homology with the human chromosome 9. ... smaller W chromosome. Instead of silencing the entire chromosome as humans do, male chickens (the model ZZ organism) seem to ...
Since each centrosome has a K fiber connecting to each pair of chromosomes, the chromosomes become tethered in the middle of ... "The Human Protein Atlas". Archived from the original on 2017-05-01. Retrieved 2017-04-27. Hirokawa N, ... As the K fibers shorten the pair chromosomes are pulled apart right before cytokinesis. Previously, some researchers believed ... For example, +TIPs have been observed to participate in the interactions of microtubules with chromosomes during mitosis. The ...
Chromosomes, Human, Pair 12 / genetics * Consanguinity * Cytoskeletal Proteins * Exons / genetics * Homozygote * Humans ... 1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. [email protected] ...
... base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from ... Gilbert F, Kauff N. Disease genes and chromosomes: disease maps of the human genome.Chromosome 12. Genet Test. 2000;4(3):319-33 ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
We have 23 pairs of chromosomes for a total of 46 chromosomes; we inherit half of them from each parent. Even though all humans ... There are at least twelve organelles in our cell. Lets look at some of them. Every human cell has a cellular membrane ... I hope that soon well be able to translate animal data to humans; still, a human is not a mouse. ... At the end of each chromosome is a telomere, that is the protective DNA protein. A cell can divide only about forty to sixty ...
Chromosome-centric human proteome project (C-HPP): Chromosome 12. Chaiyarit, S., Singhto, N., Chen, Y. J., Cheng, C. Y., ... Human Protein Reference Database and Human Proteinpedia as resources for phosphoproteome analysis. Goel, R., Harsha, H. C., ... Human protein reference database and human proteinpedia as discovery resources for molecular biotechnology. Goel, R., Muthusamy ... Unraveling the human interactome: Lessons from the yeast. Navarro, J. D. & Pandey, A., Apr 2004, In: Drug Discovery Today: ...
Chromosomes, Human, Pair 6 Medicine & Life Sciences 17% * Multigene Family Medicine & Life Sciences 14% ... Human homeo box-containing genes located at chromosome regions 2q31→2q37 and 12q12→12q13. In: American Journal of Human ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ...
To determine the consequences of whole chromosome instability (W-CIN) we down-regulated the spindle assembly checkpoint ... Age-related accumulation of ploidy changes is associated with decreased expression of genes controlling chromosome segregation ... for human chromosome 9 and RP11-51C9 (12p12) and RP11-35G5 (12q14) for human chromosome 12. After overnight hybridization of ... The combined use of two pairs of probes specific for chromosome 9 (yellow and green signals in Fig. 3a) and chromosome 12 (blue ...
Human, Pair 19" by people in this website by year, and whether "Chromosomes, Human, Pair 19" was a major or minor topic of ... A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 19" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 19" by people in Profiles. ...
Human, Pair 4" by people in this website by year, and whether "Chromosomes, Human, Pair 4" was a major or minor topic of these ... A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...
... by using 84 FVB-specific PCR microsatellite markers covering 19 chromosomes at ≈20-cM intervals, to select breeding pairs ... Selected congenic pairs were interbred to remove the endogenous murine PrP gene and to establish homozygosity of the human PrP ... Collinge J, Whitfield J, McKintosh E, Beck J, Mead S, Thomas DJ, Kuru in the 21st century-an acquired human prion disease with ... Wadsworth JD, Powell C, Beck JA, Joiner S, Linehan JM, Brandner S, Molecular diagnosis of human prion disease. Methods Mol Biol ...
Boggs 64-question test for Cipollone included questions like "How many chromosome pairs are there in a human genome?" and " ...
viral properties, tissue-tropism and organ-specific pathogenesis, involvement of physiological systems, and the human immune ... and the human immune response against the infection. The vastly accumulated scientific knowledge on all aspects of COVID-19 has ... human tissue organoids, and animal models, targeted to various aspects of the disease, viz., viral properties, tissue tropism ... we narrate the progress made since the commencement of the pandemic regarding the knowledge on COVID-19 mechanisms in the human ...
The workflow requires an input of: a chromosome name or number; a QTL start base pair position; QTL end base pair position. ... As the Cow genome is currently unfinished, the workflow subsequently maps the cow ensembl gene ids to human orthologues. Entrez ...
Human, Pair 7" by people in this website by year, and whether "Chromosomes, Human, Pair 7" was a major or minor topic of these ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 7" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 7" by people in Profiles. ...
Chromosomes, Human, Pair 8 Medicine & Life Sciences 8% * Chromosomes, Human, Pair 4 Medicine & Life Sciences 8% ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ...
1) Referenced (subject) chromosome is Human chromosome. 2) It takes 500 subsequences from Chimp chromosome each 300 bases long ... each 300 base pairs long. After dropping any slices that contained unknown sequence (i.e. Ns), I had 471 test sequences. I ... It just says how many 300 (or more) bases long similar subsequences of Chimp chromosome was found in Human chromosome.. ​ ... But I know that human Y chromosome is most diverse. So I will wait for results of other chromosomes.. ​ ...
... was used to chromosomally map the IFN-gamma gene by detecting human IFN-gamma ... A cDNA clone for human immune interferon (IFN-gamma) gene sequences, plasmid p69, ... IFN-gamma gene by correlating the human chromosomes present in these hybrids with the human specific 8.8 and 2.0 kilobase pair ... Human immune interferon gene is located on chromosome 12. S L Naylor, S L Naylor ...
Chromosomes, Human, Pair 17 18% * Frontotemporal Dementia 18% * Parkinsonian Disorders 16% * Molecular Weight 12% ...
... for humans this is 3 billion paired bases (guanine, cytosine, adenine and thymine) organized into 23 pairs of chromosomes. ... A: a true SNP on one chromosome pair, B: a deletion on one chromosome, C: a deletion on both chromosomes, D: a false variant ... A key question is how to use the reads to determine whether there is a variant on both chromosomes, on just one chromosome, or ... This paired set of releases provides a smooth ramp for users to explore and evaluate the capabilities of DeepVariant in their ...
Chromosomes, Human, Pair 10 35% * Quantitative Trait Loci 34% 7 Scopus citations ... Methamphetamine use alters human plasma extracellular vesicles and their microRNA cargo: An exploratory study. Sandau, U. S., ... Genetic polymorphisms affect mouse and human trace amine-associated receptor 1 function. Shi, X., Walter, N. A. R., Harkness, J ... Rigid adenine nucleoside derivatives as novel modulators of the human sodium symporters for dopamine and norepinephrine. ...
Recombinant human DNA polymerase η (hpol η) can replicate oligonucleotide templates containing 1,N6-ϵdA. In steady-state ... When copying DNA, DNA polymerases not only select the base of the incoming dNTP to form a Watson-Crick pair with the template ... The majority of human DNA polymerases have been reported to misinsert ribonucleotides into genomes. However, only PrimPol, DNA ... The abundant DNA adduct N7-methyl deoxyguanosine contributes to miscoding during replication by human DNA polymerase η. Journal ...
How many pairs of chromosomes are in a normal human?. *. A. 23 ... According to the Human Genome Project, how many genes do humans ... The male has two X chromosomes and the Female has an X and Y chromosome. ... Cystic Fibrosis has a disease concordance of 100%. In a pair of monozygotic twins, if one twin has cystic fibrosis, the other ...
Chromosomes, Human, Pair 12 Medicine & Life Sciences 35% View full fingerprint Cite this. * APA ... Dynamic Distribution of SeqA Protein across the Chromosome of Escherichia coli K-12. In: mBio. 2010 ; Vol. 1, No. 1. pp. e00012 ... Dynamic Distribution of SeqA Protein across the Chromosome of Escherichia coli K-12. mBio. 2010 May 18;1(1):e00012-10-e00012-10 ... Dynamic Distribution of SeqA Protein across the Chromosome of Escherichia coli K-12. / Sanchez-Romero, MA; Busby, Stephen; Dyer ...
Interpretive Summary: We report a detailed high-resolution map of a 5.5 million base pair region on pig chromosome 6q1.2, which ... Comparative mapping of the porcine BAC/PAC contig with respect to the gene-rich region on the human chromosome 19q13.1 map ... Title: GENERATION OF A 5.5 MB BAC/PAC CONTIG OF PIG CHROMOSOME 6Q1.2 AND ITS INTEGRATION WITH EXISTING RH, GENERTIC AND ... Three major differences in DNA content between human and pig are found in two large intergenic regions and in one region of a ...
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.. ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... Chromosomes, Human, Pair 12 - Preferred Concept UI. M0004420. Scope note. ... Chromosomes, Human, Pair 9 [A11.284.187.520.300.325.345] Chromosomes, Human, Pair 9 ...
Our convergent data from human genetics, expression studies, brain imaging, and animal models suggest a pathophysiological ... Risk allele carrier status in humans and chronic stress in mice were associated with a downregulation of the expression of this ... Adult, Amino Acid Transport Systems, Neutral, Analysis of Variance, Animals, Aspartic Acid, Chromosomes, Human, Pair 12, ... Risk allele carrier status in humans and chronic stress in mice were associated with a downregulation of the expression of this ...
Chromosomes, Human, Pair 6 Medicine & Life Sciences 17% * Multigene Family Medicine & Life Sciences 14% ... Human homeo box-containing genes located at chromosome regions 2q31→2q37 and 12q12→12q13. In: American Journal of Human ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ...
Inside the nucleus of all your body cells are 23 pairs of chromosomes. Each chromosome carries hundreds to thousands of genes ... Inheritance of Traits (Humans) - Matching. Inheritance of Traits in Humans - Critical Thinking. Punnetts Square Activity - ... These scientists recognized that the sequence of the human genome belonged to every human being and placed all of the sequence ... The decoding of the 3 billion DNA letters of the human genome is the result of one of the most ambitious scientific projects of ...
... experts and textbooks told you that human beings have 24 pairs of chromosomes, even though there were always 23 pairs. ... If someone tells you that there are 24 pairs of chromosomes, you have a duty to ask "how do they know?", "how would I find out ... To use one of your examples, in 1955 it was not easy to "see with a microscope that there were 23 pairs" of chromosomes. Tjio ... I think the Martian canals are analogous to the 48/46 chromosome problem. It was hard to count the number of chromosomes, and ...
The method involves assessing the genetic similarity of many sibling pairs along the lengths of all their chromosomes and ... Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11. Human Molecular Genetics, 12(24 ... and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most ... in affected-sib-pair analysis of our schizophrenia dataset (241 sibling pairs), we found linkage to schizophrenia for paternal ...
keywords = "Chromosome, human, pair 16, Genes, suppressor, tumor, Genetics, Linkage, Neuroblastoma",. author = "Weiss, {Matthew ... A single genomic interval at chromosome bands 16p12-p13 was consistent with linkage (lod = 3.46), and identification of ... A single genomic interval at chromosome bands 16p12-p13 was consistent with linkage (lod = 3.46), and identification of ... A single genomic interval at chromosome bands 16p12-p13 was consistent with linkage (lod = 3.46), and identification of ...

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