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.

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (1/817)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified, and most of their families originated in the Charlevoix-Saguenay region of northeastern Quebec, where the carrier prevalence has been estimated to be 1/22. Consistent with the hypothesis of a founder effect, we observed excess shared homozygosity at 13q11, among patients in a genomewide scan of 12 families. Analysis of 19 pedigrees demonstrated very tight linkage between the ARSACS locus and an intragenic polymorphism of the gamma-sarcoglycan (SGCG) gene, but genomic DNA sequence analysis of all eight exons of SGCG revealed no disease-causing mutation. On the basis of haplotypes composed of seven marker loci that spanned 11.1 cM, the most likely position of the ARSACS locus was 0.42 cM distal to the SGCG polymorphism. Two groups of ARSACS-associated haplotypes were identified: a large group that carries a common SGCG allele and a small group that carries a rare SGCG allele. The haplotype groups do not appear to be closely related. Therefore, although chromosomes within each haplotype group may harbor a single ARSACS mutation identical by descent, the two mutations could have independent origins.  (+info)

Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. (2/817)

Loss of heterozygosity at tumor-suppressor loci is an important oncogenic mechanism first discovered in retinoblastomas. We explored this phenomenon by examining a set of matched retinoblastoma and leukocyte DNA samples from 158 patients informative for DNA polymorphisms. Loss of heterozygosity at the retinoblastoma locus (13q14) was observed in 101 cases, comprising 7 cases with a somatic deletion causing hemizygosity and 94 with homozygosity (isodisomy). Homozygosity was approximately equally frequent in tumors from male and female patients, among patients with a germ-line vs. somatic initial mutation, and among patients in whom the initial mutation occurred on the maternal vs. paternal allele. A set of 75 tumors exhibiting homozygosity was investigated with markers distributed in the interval 13cen-13q14. Forty-one tumors developed homozygosity at all informative marker loci, suggesting that homozygosity occurred through chromosomal nondisjunction. The remaining cases exhibited mitotic recombination. There was no statistically significant bias in apparent nondisjunction vs. mitotic recombination among male vs. female patients or among patients with germ-line vs. somatic initial mutations. We compared the positions of somatic recombination events in the analyzed interval with a previously reported meiotic recombination map. Although mitotic crossovers occurred throughout the assayed interval, they were more likely to occur proximally than a comparable number of meiotic crossovers. Finally, we observed four triple-crossover cases, suggesting negative interference for mitotic recombination, the opposite of what is usually observed for meiotic recombination.  (+info)

Exclusion of insulin receptor substrate 2 (IRS-2) as a major locus for early-onset autosomal dominant type 2 diabetes. (3/817)

We investigated whether variability at the insulin receptor substrate (IRS)-2 locus plays a role in the etiology of early-onset autosomal dominant type 2 diabetes. By means of radiation hybrid mapping, we placed the human IRS-2 gene on 13q at 8.6 cRays from SHGC-37358. Linkage between diabetes and two polymorphic markers located in this region (D13S285 and D13S1295) was then evaluated in 29 families with early-onset autosomal dominant type 2 diabetes. Included were 220 individuals with diabetes, impaired glucose tolerance, or gestational diabetes (mean age at diabetes diagnosis 36 +/- 17 years) and 146 nondiabetic subjects. Overall, strongly negative logarithm of odds (LOD) scores for linkage with diabetes were obtained by multipoint parametric analysis (LOD score -45.4 at D13S285 and -40.9 at D13S1295). No significant evidence of linkage was obtained under the hypothesis of heterogeneity or by nonparametric methods. Fourteen pedigrees for which linkage could not be excluded (LOD score > -2.0) were screened for mutations in the IRS-2 coding region by dideoxy fingerprinting. However, no mutations segregating with diabetes could be detected in these families. These data indicate that IRS-2 is not a major gene for early-onset autosomal dominant type 2 diabetes, although a role of mutations in the promoter region cannot be excluded at this time.  (+info)

CD5 positive breast carcinoma in a patient with untreated chronic lymphocytic leukaemia: molecular studies of chromosome 13q. (4/817)

A 67 year old woman presented with a right breast lump which proved to be a grade 2 invasive ductal carcinoma with axillary lymph node metastasis. She had a five year history of CD5 positive chronic lymphocytic leukaemia, which never required treatment. Immunoperoxidase stains for CD5, using the monoclonal antibody NCL-CD-54C7, showed that there was extensive infiltration of axillary lymph nodes with CD5 positive B lymphocytes. Strong staining for CD5 was also seen in the carcinoma cells within the breast and lymph node metastases. It has recently been suggested that there is a tumour suppresser locus in chronic lymphocytic leukaemia at 13q12.3 near or at the BRCA2 locus. Deletion of regions on chromosome 13q containing the BRCA2 and RB1 genes has also been reported in sporadic breast cancers. These observations suggest that there may be a link between these two diseases acting through chromosome 13, but amplification of several microsatellite repeat markers failed to show any loss of heterozygosity or repeat instability at either these or several other loci on chromosome 13. Examination of additional such cases is needed to perform a more comprehensive study of the significance of positive CD5 staining of breast carcinoma.  (+info)

Asynchronous replication of alleles in genomes carrying an extra autosome. (5/817)

Transcriptional activity of genes appears to be highly related to their replication timing; alleles showing the common biallelic mode of expression replicate highly synchronously, whereas those with a monoallelic mode of expression replicate asynchronously. Here we used FISH to determine the level of synchronisation in replication timing of alleles in amniotic fluid cells derived from normal foetuses and from those with either of the trisomies for autosomes 21, 18 or 13, or for sex chromosomes (47,XXX and 47,XXY). Two pairs of alleles, not associated with the extra chromosome, were studied in subjects with each trisomy and three in normal subjects. In cells derived from normal foetuses and from foetuses with sex chromosome trisomies, each pair of alleles replicated synchronously; yet these very same alleles replicated asynchronously in cells derived from foetuses with trisomy for any of the three autosomes studied. The results suggest that the gross phenotypic abnormalities associated with an extra autosome are brought about not only by over-expression of genes present in three doses, but also by modifications in the expression of genes present in the normal two doses.  (+info)

Chromosome 13q deletion mapping in pituitary tumors: infrequent loss of the retinoblastoma susceptibility gene (RB1) locus despite loss of RB1 protein product in somatotrophinomas. (6/817)

Two recent studies have described allelic loss of an RB1 intragenic marker on chromosome 13q in aggressive and metastatic pituitary tumors that did not correlate with loss of pRB. The second report also showed that losses were more frequently associated with a more centromeric marker. Because both of these studies suggest the presence of another or other tumor suppressor genes (TSGs) on 13q, we carried out an allelotype analysis encompassing known and recently described TSG loci on 13q, together with immunohistochemical analysis of pRB. We analyzed 82 nonfunctional tumors and 53 somatotrophinomas subdivided into invasive and noninvasive cohorts. A significantly higher frequency of loss, at one or more of 13 markers, was evident in the invasive nonfunctional tumors (54%, 26 of 48) than in their noninvasive counterparts (29%, 10 of 34). An approximately equal frequency of loss was apparent in invasive (28%, 5 of 18) and noninvasive (31%, 11 of 35) somatotrophinomas at one or more markers. In those tumors harboring deletion, loss at two or more markers was more frequent in invasive nonfunctional tumors 65% (17 of 26) compared with 36% (4 of 11) of their noninvasive counterparts. In somatotrophinomas, 40% (2 of 5) of invasive tumors as compared with 64% (7 of 11) of noninvasive tumors had evidence of two or more deletions. In tumors showing loss at two or more loci, the majority showed large deletions; however, loss of the RB1 intragenic marker D13S153 was infrequent. In most cases, loss at individual markers was more frequent in invasive tumors than their noninvasive counterparts. A marker 3 cM telomeric to RB1 (D13S1319) showed the highest frequency of deletion in both invasive cohorts (29% of somatotrophinomas and 24% of nonfunctional tumors). Immunohistochemical analysis of pRB showed frequent loss in somatotrophinomas (27%, 9 of 33) in comparison with 4% (2 of 53) of non-functional tumors. Although loss of pRB did not correlate with loss of an intragenic marker or tumor grade, it was significantly associated with the somatotrophinoma subtype (P = 0.002). These data suggest that chromosome 13q is a frequent target for allelic deletion in pituitary tumors and point to another or other TSG loci in these regions.  (+info)

Connexin46 mutations in autosomal dominant congenital cataract. (7/817)

Loci for autosomal dominant "zonular pulverulent" cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3). Here we report genetic refinement of the CZP3 locus and identify underlying mutations in the gene for gap-junction protein alpha-3 (GJA3), or connexin46 (Cx46). Linkage analysis gave a significantly positive two-point LOD score (Z) at marker D13S175 (maximum Z [Zmax]=>7.0; maximum recombination frequency [thetamax] =0). Haplotyping indicated that CZP3 probably lies in the genetic interval D13S1236-D13S175-D13S1316-cen-13pter, close to GJA3. Sequencing of a genomic clone isolated from the CZP3 candidate region identified an open reading frame coding for a protein of 435 amino acids (47,435 D) that shared approximately 88% homology with rat Cx46. Mutation analysis of GJA3 in two families with CZP3 detected distinct sequence changes that were not present in a panel of 105 normal, unrelated individuals. In family B, an A-->G transition resulted in an asparagine-to-serine substitution at codon 63 (N63S) and introduced a novel MwoI restriction site. In family E, insertion of a C at nucleotide 1137 (1137insC) introduced a novel BstXI site, causing a frameshift at codon 380. Restriction analysis confirmed that the novel MwoI and BstXI sites cosegregated with the disease in families B and E, respectively. This study identifies GJA3 as the sixth member of the connexin gene family to be implicated in human disease, and it highlights the physiological importance of gap-junction communication in the development of a transparent eye lens.  (+info)

Lymphatic vessel hypoplasia in fetuses with Turner syndrome. (8/817)

Turner syndrome is associated with subcutaneous accumulation of fluid in the neck region that can be visualized sonographically from 10-14 weeks of gestation as massively increased nuchal translucency thickness. Possible mechanisms for this increased translucency include dilatation of the jugular lymphatic sacs because of developmental delay in the connection with the venous system, or a primary abnormal dilatation or proliferation of the lymphatic channels interfering with a normal flow between the lymphatic and venous systems. The aim of this study was to investigate the distribution of lymphatic vessels in nuchal skin tissue from fetuses with Turner syndrome compared with fetuses carrying trisomies 21, 18 and 13 and chromosomally normal controls. The distribution of vessels was examined by immunohistochemistry using a monoclonal antibody, PTN63, against 5' nucleotidase and an anti-laminin antibody. In normal control fetuses (n = 6) and those with trisomies 21 (n = 3), 18 (n = 2) and 13 (n = 2), PTN63-positive and laminin-positive vessels were evenly distributed throughout the dermis and subcutis. In Turner syndrome (n = 3), there was a chain of large vessels that stained with both PTN63 and laminin at the border between dermis and subcutis, but there was scarcity of vessels in the upper dermis and the subcutis. Using PTN63 alone, there were no positive vessels in the upper dermis. We conclude that in Turner syndrome lymphatic vessels in the upper dermis are hypoplastic.  (+info)

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Definition of robertsonian translocation in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is robertsonian translocation? Meaning of robertsonian translocation as a legal term. What does robertsonian translocation mean in law?
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal ...
A Robertsonian translocation is a chromosomal abnormality that generally doesnt cause health problems. However, it can affect pregnancy, especially when it results in a fetus with a genetic condition that is incompatible with life. Well tell you what you can do if you have or suspect you have this translocation.
Complete information for KCNRG gene (Protein Coding), Potassium Channel Regulator, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
Hi there, I am researching chromosome 2 fusion theory. The theory that chromosome 2 and 3 was fused by a Robertsonian Translocation in two human-chimp common ancestors which mated giving us our chromosome 2 and 46 chromosomes instead of the other higher primates 48.. I was attempting to understand what the odds of this occurring were, to which end I want to know the odds that a chimp baby will be born with this mutation. I understand that 1 in 1000 human babies are born with a Robertsonian Translocation, is it the same for chimps?. ...
TY - JOUR. T1 - Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. AU - Stetten, G.. AU - Tuck-Muller, C. M.. AU - Blakemore, Karin. AU - Wong, C.. AU - Kazazian, Haig. AU - Antonarakis, S. E.. PY - 1990. Y1 - 1990. UR - http://www.scopus.com/inward/record.url?scp=0025670533&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0025670533&partnerID=8YFLogxK. M3 - Article. C2 - 2077349. AN - SCOPUS:0025670533. VL - 7. SP - 479. EP - 484. JO - Molecular Biology and Medicine. JF - Molecular Biology and Medicine. SN - 0735-1313. IS - 6. ER - ...
Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocatio...
Looking for online definition of Robertsonian in the Medical Dictionary? Robertsonian explanation free. What is Robertsonian? Meaning of Robertsonian medical term. What does Robertsonian mean?
Looking for online definition of trisomies in the Medical Dictionary? trisomies explanation free. What is trisomies? Meaning of trisomies medical term. What does trisomies mean?
Translocation is the exchange of chromosome segments, usually between nonhomologous chromosomes. There are two primary types of translocations: reciprocal translocations and Robertsonian translocations. A reciprocal translocation occurs when segments from nonhomologous chromosomes break off, with segment attaching to the other chromosome and vice-versa. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with tiny short arms, meaning the centromere is near one end) fuse at the centromere and lose their short arms.. Reciprocal translocations usually involve only two chromosomes, meaning the total chromosome number is unchanged. Reciprocal translocation are typically harmless, despite being more common in individuals so retarded that they require institutional care. There are three kinds of reciprocal translocation: alternate; adjacent-1; and adjacent-2.. Robertsonian translocations lead to a balanced karyotype with only 45 chromosomes. Because acrocentric short arms ...
Robertsonian translocation: Two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material ...
TCGAs efforts to dissect the genomic complexity found in breast cancer patients represents only the beginning of a journey toward better understanding of the intricacy of the events that lead to this disease. Additional efforts are required to provide tailored and effective therapeutic interventions.
3q deletion information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Use Bio-Rads PrimePCR assays, controls, templates for your target gene. Every primer pair is optimized, experimentally validated, and performance guaranteed.
A Robertsonian translocation 45,XY, t(13q; 14q) was detected in the leukocyte cultures of a phenotypically normal male. Silver staining technique for nucleolus organizer regions revealed that both acrocentrics involved in the translocation had lost their nucleolus organizers.
Images Alveolar rhabdomyosarcoma. https://twitter.com/histiocytosisX/status/699599913013923840 https://twitter.com/seattlequinns/status/85520214
The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers and educators in the field of genetics. Our members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level.. Online ISSN: 1943-2631. ...
Since publication of the classic descriptions by Riopelle and ThÉRiault (1956) and Enzinger and Shiraki (1969) the morphology of alveolar rhabdomyosarcoma (aRMS) has been well known. RMS presenting with clear and unequivocal (pseudo)alveolar spaces can be recognized at first sight as the alveolar (sub-)type of RMS. On the other hand, a diagnosis of aRMS may be difficult in cases which display neither significant evidence of rhabdomyogenesis in conventionally stained slides nor unambiguous alveolar spaces. In such cases the diagnosis of RMS must be confirmed by special staining including immunohistochemistry. ...
article{550e732e-dca8-4d3e-9ebf-88dc9d73d5c3, abstract = {,p,Complex karyotype (CK) identified by chromosome-banding analysis (CBA) has shown prognostic value in chronic lymphocytic leukemia (CLL). Genomic arrays offer high-resolution genome-wide detection of copy-number alterations (CNAs) and could therefore be well equipped to detect the presence of a CK. Current knowledge on genomic arrays in CLL is based on outcomes of single center studies, in which different cutoffs for CNA calling were used. To further determine the clinical utility of genomic arrays for CNA assessment in CLL diagnostics, we retrospectively analyzed 2293 arrays from 13 diagnostic laboratories according to established standards. CNAs were found outside regions captured by CLL FISH probes in 34% of patients, and several of them including gains of 8q, deletions of 9p and 18p (p<0.01) were linked to poor outcome after correction for multiple testing. Patients (n=972) could be divided in three distinct prognostic subgroups ...
Trisomy 18 and 13 What are trisomies? The term trisomy is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 chromosomes, rather than the usual pair, the baby would be said to have trisomy 21. Trisomy 21 is also known as Down syndrome. Other examples of trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) pr...
Centromeres are specified by sequence-independent epigenetic mechanisms in most organisms. Rarely, centromere repositioning results in neocentromere formation at ectopic sites. However, the mechanisms governing how and where neocentromeres form are unknown. Here, we established a chromosome-engineer …
Edwards syndrome, Patau syndrome, and other genetic disorders are trisomies, just like Down syndrome. Learn more about these lesser-known disorders.
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class=publication>Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href=http://www.nrbook.com/b/bookcpdf.php>Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
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Introduction: Rhabdomyosarcoma is an uncommon tumor seen in young adolescents and adults that metastasizes to the peritoneum. Case Report: Here we report a case of 18-year-old female who had alveolar rhabdomyosarcoma of nose and was treated with chemoradiotherapy. After one year, she presented with ascites. Ascitic fluid cytology revealed deposits of rhabdomyosarcoma. Immunohistochemistry done to support the diagnosis. This case report highlights the cytological features of rhabdomyosarcoma cells, which were large pleomorphic with high nuclear cytoplasmic ratio, coarse chromatin and scant cytoplasm. A small population of cells was almost the size of mesothelial cells, which could be mistaken for a reactive mesothelial cells. Conclusion: Awareness of rare metastases of rhabdomyosarcoma in peritoneum and recognition of the cytological features of these malignant cells supported by specific immunostains helps in the diagnosis.
The gene PADPRP codes for a nuclear enzyme Poly (ADP-ribose) polymerase. This enzyme is a DNA binding protein that modulates chromatin structure adjacent to DNA strand breaks (Smulson and Sugimura...
Constitutional mutations of the RB1 gene are associated with a predisposition to retinoblastoma. It is essential to identify these mutations to provide appropriate genetic counseling in retinoblastoma patients, but this represents an extremely challenging task, as the vast majority of mutations are …
Case report:. A 31-year-old female patient with the following gynecological and obstetrical history: gestations: 7, abortions 6, births 0, cesareans 1, children alive 1, children dead 0. Pregnancy 1: 12-year-old daughter, with no dysmorphia, from the second gestation 11 years ago to the seventh gestation occurred this year, have ended in spontaneous abortions before the first 12 weeks of gestation. With a cytogenetic study that reports Robertsonian translocation, 45, XX, t (13/15). ...
Alternative splicing was the first phenomenon scientists discovered that made them realize that genomic complexity cannot be judged by the number of protein-coding genes. During alternative splicing, which occurs after transcription and before translation, introns are removed and exons are spliced together to make an mRNA molecule. However, the exons are not necessarily all spliced back together in the same way. Thus, a single gene, or transcription unit, can code for multiple proteins or other gene products, depending on how the exons are spliced back together. In fact, scientists have estimated that there may be as many as 500,000 or more different human proteins, all coded by a mere 20,000 protein-coding genes. ...
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MGUS - MedHelps MGUS Center for Information, Symptoms, Resources, Treatments and Tools for MGUS. Find MGUS information, treatments for MGUS and MGUS symptoms.
If you have a family member with Distal Trisomy 10q, we invite you to share in our community. Reasons to join are: To share your childs stories
ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your… CONTINUE ...
|i|Purpose|/i|. To investigate the clinical presentations and outcomes of retinoblastoma in relation to the advent of new multimodal treatments in Thailand. |i|Patients and Methods.|/i| Retrospective case series. We evaluated the clinical presentation, staging, details of treatment, and treatment outcomes of retinoblastoma patients who were treated at Ramathibodi Hospital, Bangkok, Thailand, between January 1, 2007, and December 31, 2018. The log-rank test was used to explore clinical characteristics and treatment modalities that affected globe salvage and survival curves. |i|Results|/i|. This study included 124 eyes of 81 patients with retinoblastoma. Forty-three patients (53.1%) had bilateral retinoblastoma. The median age at diagnosis was 8 months (range, 1–48 months). Of 124 eyes, 9 eyes (7.3%) had extraocular retinoblastoma and 115 eyes (92.7%) had intraocular retinoblastoma, which were classified by the International Classification of Retinoblastoma (ICRB) as group A, 4
Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. Especially the alveolar rhabdomyosarcoma (ARMS) shows poor prognosis when metastases have developed. [...]
Researchers at Oregon Health & Science University Doernbecher Childrens Hospital have identified a promising new approach to overcoming drug resistance in children with an extremely aggressive childhood muscle cancer known as alveolar rhabdomyosarcoma. Their findings are published online this week in the journal Molecular Cancer Therapeutics and will be featured on the cover of the journals print edition next month.. Rhabdomyosarcoma accounts for more than 50 percent of all soft-tissue cancers in children. Even after extensive therapy, the survival rate among alveolar rhabdomyosarcoma patients with advanced disease is less than 20 percent. Dismal outcomes such as these are what keep researchers in the Pediatric Cancer Biology Program at OHSU Doernbecher working around the clock toward a breakthrough.. Despite our best efforts, outcomes for metastatic alveolar rhabdomyosarcoma have not improved for decades. Thats why our findings are significant. Our clinical partners now have a new method of ...
It is believed that some rhabdomyosarcoma tumors begin developing in the fetus. Rhabdomyoblasts are the cells at the initial stages of development of an unborn baby. These cells will mature and develop into muscles. There has been much research into the gene structure of these rhabdomyoblasts and possible detection of a gene error that can produce the disease later in development.. Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. In children with an embryonal rhabdomyosarcoma, there is usually an abnormality of chromosome 11. In alveolar rhabdomyosarcoma, a rearrangement in the chromosome material between chromosomes 2 and 13 is usually present. This rearrangement changes the position and function of genes, causing a fusion of genes referred to as a fusion transcript. Patients have an abnormal fusion transcript involving two genes known as PAX3 and FKHR. This important discovery has led to improvements in ...
In 1974, Segal and McCoy reported that primary foreskin fibroblasts of trisomy 21 patients proliferate more slowly than euploid control cells ( 6). Similar results were obtained from studies of primary mouse cells ( 7) or human cell lines ( 8) with decreased chromosome segregation fidelity. We set out to characterize the effects of a single extra chromosome on cell growth and proliferation in a systematic manner. This approach not only enabled us to determine whether every chromosome when present in an extra copy interferes with proliferation, but also allowed us to determine whether a general response to aneuploidy exists.. We established MEFs trisomic for either chromosome 1, 13, 16, or 19 using mice with balanced Robertsonian translocations. Analysis of the cell lines established from these aneuploid embryos revealed that cell proliferation was hampered in all trisomic MEFs compared with euploid controls. Furthermore, the characterization of the trisomic MEFs revealed a number of shared ...
Screening Tests in Pregnancy - Screening for Trisomies Downs Syndrome, Pataus Syndrome and Edwards Syndrome. Combined Screening, Quadruple Test and Non Invasive Prenatal Testing (NIPT) These syndromes are also called trisomies. We have 23 pairs of chromosomes as humans. The above syndromes ari
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
Information on Chromosome 7q deletion, which may include symptoms, causes, inheritance, treatments, orphan drugs, associated orgs, and other relevant data.
There is no cure for trisomy 18 or trisomy 13. We are not certain how to prevent the chromosomal error that causes trisomy 18 and trisomy 13. To date, there is no scientific evidence that a parent could have done anything to cause or prevent the birth of their baby with trisomy 18 or 13 ...
Is there a correlation between trisomy 18 and autism - Is there a correlation between trisomy 18 and autism? Not really. Trisomy 18 is a severe syndrome that significantly affects the brain and its development. A child with autistic like behaviors who has trisomy 18, is a trisomy-18 patient, not an autism patient.
Give your device a unique style all its own. This Trisomy 18 - How Strong Case was professionally created and printed in the United States to create awareness for Trisomy! Textured printing raises parts of the images, creating a unique feel like no other case. The case features high-quality, original design and images
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Description: B-Cell Chronic Lymphocytic Leukemia - Pipeline Review, H1 2017, provides an overview of the B-Cell Chronic Lymphocytic Leukemia (Infectious Di
The mK3 protein of gammaherpesvirus 68 and the kK5 protein of Kaposis sarcoma-associated herpesvirus are members of a family group of structurally related viral immune evasion substances that all have a very RING-CH domains with ubiquitin ligase activity. in substrate Touch/tapasin and specificity dependence between mK3 and kK5 allowed us, using chimeric substances, to map […]. ...
trisomy 18 is the second most common type of trisomy syndrome, after trisomy 21 (down syndrome). about one in every 5,000 babies is born with trisomy 18, and most are female.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
The most common chromosomal abnormalities are trisomies - 3 copies of one of the chromosomes. The most common of these is trisomy 21, or Down syndrome.
Reminisce back through 2012 with me on Trisomy Twenty-ONEderful. What a year it has been! Thanks for being such a loyal group of readers and supporters. Tessa is sure lucky to have you all! Heres a thought from WordPress: 4,329 films were submitted to the 2012 Cannes Film Festival. This blog had 18,000 views in…
The term translocation is used when the location of specific chromosome material changes. There are two main types of translocations: reciprocal and Robertsonian
Trisomy 21 is the most common numerical chromosomal disorder in newborns. There are three copies of chromosome 21 and this leads to the development of Down
... is a gene found on the 21st chromosome at 21q22.1. A total of thirteen splice variants have been found, but only eleven ... The most common form of CFAP298 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are ... 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins ... "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC ...
Cytogenic location: 9p13.3 Located on chromosome 9 in the human genome. It starts at base pair 35,814,451, and ends at ... It encodes for a transmembrane protein that is 338 amino acids long, and is located on human chromosome 9. Aliases associated ... One human paralog was found when this protein was sequenced in BLAST. It is 416 amino acids long, with 40% sequence identity, ... Human TMEM8B genome location and TMEM8B gene details page in the UCSC Genome Browser. Online Mendelian Inheritance in Man (OMIM ...
In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the highest quality isoform, forming an ... mRNA of 2797 base pairs. Three other isoforms have been isolated. Homologs exist as distant as the green sea turtle and ... The human C12orf40 protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric ... Kenta Nakai, Human Genome Center, Institute for Medical Science, University of Tokyo, Japan.[2] Edgar, R. (1 January 2002). " ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
TMEM44 gene is located at the end of the long arm of chromosome 3 in humans (Homo sapiens). TMEM44 is 428 amino acids in length ... mRNA sequence of the TMEM44 gene is 1483 base pairs long, with 13 exons. ... Database, GeneCards Human Gene. "TMEM44 Gene - GeneCards , TMM44 Protein , TMM44 Antibody". www.genecards.org. Retrieved 2018- ... "TMEM44 transmembrane protein 44 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-15. "ExPASy - ...
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... As of 2004, the human nucleotide diversity was estimated to be 0.1% to 0.4% of base pairs. In 2015, the 1000 Genomes Project, ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... Long and Kittles find that rather than 85% of human genetic diversity existing in all human populations, about 100% of human ...
The isoelectric point of EFHC2 is estimated to be 7.13 in humans. Relative to other proteins expressed in humans, EFHC2 has ... The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime ... EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is one of a few, select number of ... A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the ...
"C1orf127 chromosome open reading frame 127 [Homo sapiens (human)]". Retrieved 19 February 2018. Liu YY, Chen HY, Zhang ML, Tian ... C1orf127 is located on the short arm of Chromosome 1 (1p36.22), spanning 35,566 base pairs from 10946471 to 10982037. It is ... "C1orf127 chromosome 1 open reading frame 127 [ Homo sapiens (human) ]". National Center for Biotechnology Information. ... Uncharactarized protein C1orf127 is a protein that in humans is encoded by the C1orf127 gene, the structure and function of ...
The human reference BRCA 2 gene contains 27 exons, and the cDNA has 10,254 base pairs coding for a protein of 3418 amino acids ... These breaks can be caused by natural and medical radiation or other environmental exposures, but also occur when chromosomes ... BRCA2 is a human tumor suppressor gene (specifically, a caretaker gene), found in all humans; its protein, also called by the ... BRCA2 mutations are usually insertions or deletions of a small number of DNA base pairs in the gene. As a result of these ...
The NDUFA13 gene is located on the p arm of chromosome 19 in position 13.2 and spans 11,995 base pairs. The gene produces a 17 ... The human NDUFA13 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... Chidambaram NV, Angell JE, Ling W, Hofmann ER, Kalvakolanu DV (2000). "Chromosomal localization of human GRIM-19, a novel IFN- ... Ton C, Hwang DM, Dempsey AA, Liew CC (Jan 1998). "Identification and primary structure of five human NADH-ubiquinone ...
Sterility in a non-polyploid hybrid is often a result of chromosome number; if parents are of differing chromosome pair number ... Human influence[edit]. Anthropogenic hybridization[edit]. Hybridization is greatly influenced by human impact on the ... For example, donkeys have 62 chromosomes, horses have 64 chromosomes, and mules or hinnies have 63 chromosomes. Mules, hinnies ... In humans[edit]. Main article: Interbreeding between archaic and modern humans. There is evidence of hybridisation between ...
The gene spans 142,366 base pairs and is located at the 10p12.2 locus on the minus (-) or sense strand of chromosome 10. It is ... "C10orf67 chromosome 10 open reading frame 67 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-30 ... Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human ... "Homo sapiens chromosome 10 open reading frame 67 (C10orf67), mRNA". www.ncbi.nlm.nih.gov. Retrieved 2017-02-05. Database, ...
In humans, Robertsonian translocations occur in the five acrocentric chromosome pairs (chromosome pairs where the short arms ... or non-homologous chromosomes (i.e. two different chromosomes, not belonging to a homologous pair). A feature of chromosomes ... This type of translocation is cytologically visible, and can reduce chromosome number (from 23 to 22 pairs, in humans) if the ... In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the ...
It is located on the human chromosome 4 at 4q35.1. The function of the protein encoded by this gene is not well understood, but ... The total span of the gene, including 5' and 3' UTR, is 3149 base pairs. The gene is flanked on the left by NUDT13 (nudix ... Overall in the human body, this gene is expressed at levels slightly below the average human gene expression level. The protein ... A Systematic Exploration of the Human Interactome. Cell, 162(2), 425-440. doi:10.1016/j.cell.2015.06.043 "ABHD8_HUMAN". UniProt ...
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 ... "The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus". American Journal of Human Genetics ...
It is 14100 base pairs of DNA in length, and contains nine exons, the corresponding mRNA is 2786 base pairs in length (the ... they present lower levels of 7-DHC and 8-DHC than are seen in humans. This can be explained by the fact that humans experience ... The gene encoding DHCR7 (labeled as DHCR7) was cloned in 1998, and has been mapped to chromosome 11q12-13. ... The human version of this enzyme is predicted to have a molecular weight of 54,489 kDa, and an isoelectric point of 9.05. The ...
The COX5A gene, located on the q arm of chromosome 15 in position 24.1, is made up of 5 exons and is 17,880 base pairs in ... Cytochrome c oxidase subunit 5a is a protein that in humans is encoded by the COX5A gene. Cytochrome c oxidase 5A is a subunit ... Human COX5A genome location and COX5A gene details page in the UCSC Genome Browser. Mass spectrometry characterization of COX5A ... Rizzuto R, Nakase H, Zeviani M, DiMauro S, Schon EA (Sep 1988). "Subunit Va of human and bovine cytochrome c oxidase is highly ...
The CCDC47 gene itself is located on the minus strand of human chromosome 17 and contains 13 exon splice sites and 14 distinct ... In regards to the mRNA, translation begins at base pair 337 and ends at 1728. There is a strong stem loop located in the 5' UTR ... Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the ... Percent identity of human CCDC47 to a specific ortholog declines with increasing years of divergence, as expected. Homologous ...
For example, diploid human cells contain 23 pairs of chromosomes including 1 pair of sex chromosomes (46 total), half of ... Recombination among the 23 pairs of human chromosomes is responsible for redistributing not just the actual chromosomes, but ... The paired and replicated chromosomes are called bivalents (two chromosomes) or tetrads (four chromatids), with one chromosome ... The paired chromosomes are called bivalent or tetrad chromosomes. The pachytene stage (/ˈpækɪtiːn/ PAK-i-teen), also known as ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... The typical human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). The most ... The karyotype of humans includes only 46 chromosomes. The other great apes have 48 chromosomes. Human chromosome 2 is now known ... In primates, the great apes have 24x2 chromosomes whereas humans have 23x2. Human chromosome 2 was formed by a merger of ...
... that of the human genome, although the number of chromosomes (22) is comparable to that of humans (23). This makes it ... It remains among the smallest known vertebrate genomes; its number of base pairs is ~6% and the number of previously known ... Current estimates show a total of 392,376,244 base pairs, 1,138 known and 18,093 novel protein-coding genes, and 593 RNA genes ... After being initiated in 1989, it was the first vertebrate genome after the human genome to be made publicly available. ...
Dobner T, Wolf I, Mai B, Lipp M (Feb 1992). "A novel divergently transcribed human histone H2A/H2B gene pair". DNA Seq. 1 (6): ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. Bibcode:2003Natur.425..805M. doi: ... Histone H2B type 1-O is a protein that in humans is encoded by the HIST1H2BO gene. Histones are basic nuclear proteins that are ... 2006). "Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation". Mol. Cell. 20 (4 ...
Dobner T, Wolf I, Mai B, Lipp M (Feb 1992). "A novel divergently transcribed human histone H2A/H2B gene pair". DNA Seq. 1 (6): ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. Bibcode:2003Natur.425..805M. doi: ... 1999). "The human H2A and H2B histone gene complement". Biol. Chem. 380 (1): 7-18. doi:10.1515/BC.1999.002. PMID 10064132. ... Histone H2A type 1 is a protein that in humans is encoded by the HIST1H2AM gene. Histones are basic nuclear proteins that are ...
In these mice, the prophase I stage of meiosis is defective due to the disruption of chromosome pairing. This meiotic failure ... MutS protein homolog 5 is a protein that in humans is encoded by the MSH5 gene. This gene encodes a member of the mutS family ... "Mammalian MutS homologue 5 is required for chromosome pairing in meiosis". Nature Genetics. 21 (1): 123-7. doi:10.1038/5075. ... "Mammalian MutS homologue 5 is required for chromosome pairing in meiosis". Nature Genetics. 21 (1): 123-7. doi:10.1038/5075. ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Table 1: Gene names and chromosomal locations for the various subunits of polymerase delta in human, mouse, budding and fission ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ...
Mutation or loss of ZIC5 has not been associated with any congenital defects in humans. however, loss of Zic5 in mice causes a ... ZIC5 is located on chromosome 13 in a divergently transcribed gene pair with the closely related gene ZIC2. It has been ... GRCh38: Ensembl release 89: ENSG00000139800 - Ensembl, May 2017 "Human PubMed Reference:". National Center for Biotechnology ...
The Institute was engaged in collaborations to sequence 8 of the 23 human pairs of chromosomes (1, 6, 9, 10, 13, 20, 22, and X ... "International Human Genome Sequencing Consortium Announces "Working Draft" of Human Genome". National Human Genome Research ... Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human genome". Nature. 431 (7011): 931- ... The Institute's research in human genetics focuses on the characterisation of human genetic variation in health and disease. ...
Humans have one pair fewer chromosomes than other apes, with ape chromosomes 2 and 4 fused in the human genome into a large ... In a direct parallel to the chimp-human case, the Przewalski's horse (Equus ferus przewalskii) with 33 chromosome pairs, and ... Chromosomes 3, 11, 14, 15, 18, and 20 match between gorillas, chimpanzees, and humans. Chimps and humans match on 1, 2p, 2q, 5 ... The novel and serial concern, not a chimpanzee-human hybrid, but a genetic gorilla-human hybrid, who appears human. Next (2006 ...
The human RUFY2 gene is located on the long (q) arm of chromosome 10 at region 21 band 3, from base pair 70,100,864 to base ... The gene produces a 2,080 base pair mRNA. There are 18 predicted exons in the human gene with 13 alternative transcripts. 8,180 ... RUN and FYVE domain containing 2 (RUFY2) is a protein that in humans is encoded by the RUFY2 gene. The RUFY2 gene is named for ... While 6,770 base pairs downstream from RUFY2 is a DNA2 conserved helicase/nuclease involved in the maintenance of mitochondrial ...
The ALOX5 gene, which occupies 71.9 kilobase pairs (kb) on chromosome 10 (all other human lipoxygenases are clustered together ... Aberrant expression of LOX5 is seen in various types of human cancer tumors in vivo as well as in various types of human cancer ... Studies with cultured human cells have found that there are a large number of ALOX5 mRNA splice variants due to alternative ... Human ALOX5 is a soluble, monomeric protein consisting of 673 amino acids with a molecular weight of ~78 kDa. Structurally, ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... 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 ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... and Ptolemy XIII, who married and became co-rulers of ancient Egypt following their father's death, are the most widely known ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 13] These glucose derivatives have had some success in inhibiting HLGP, with predicted Ki values as low as 0.016 mM.[14] ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... HMGB (1, 2, 3) • HNF (1A, 1B) • LEF1 • SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) • SRY • SSRP1 • TCF (3, 4) ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
The genotype of the male consists of a Y chromosome paired with an X chromosome. Female gender is determined by the absence of ... Redirected from Human male reproductive system). This article is about the reproductive system in human males. For the male ... This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ... If this sperm cell contains an X chromosome it will coincide with the X chromosome of the ovum and a female child will develop ...
SMN1 is located in a telomeric region of human chromosome 5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are ... This single base pair change leads to only 10-20% of SMN2 transcripts resulting in fully functional SMN protein and 80-90% of ... European Journal of Human Genetics : EJHG. 21 (6): 643-52. doi:10.1038/ejhg.2012.222. PMC 3658191. PMID 23073311.. ... American Journal of Human Genetics. 85 (3): 408-13. doi:10.1016/j.ajhg.2009.08.002. PMC 2771537. PMID 19716110.. ...
... arm of chromosome 20 between the end (terminus) of the arm and position 12, from base pair 4,615,068 to base pair 4,630,233. ... of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human ... "Assignment of the human and mouse prion protein genes to homologous chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7358- ... thought to be due to human ingestion of diseased individuals, and vCJD, thought to be due to human ingestion of BSE-tainted ...
They gathered subjects with a mean age of 59, who included 99 pairs of identical twins, and 229 pairs of fraternal twins who ... "Human Intelligence.. *^ a b c Alan, E.S. (2012). "Issues in Birth Order Research Methodology: Perspectives from Individual ... This is very rare and is due to there being a smaller possibility of inheriting the same chromosomes from the shared parent. ... They also gathered twins who were reared together: 160 pairs of identical twins, and 212 pairs of fraternal twins. They studied ...
The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in two large, systematically ascertained, linked ... Chromosomes, Human, Pair 13* * Female * Genetic Linkage* * Genetic Markers * Humans * Male * Neoplasm Proteins / genetics* ... Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13 Am J Hum Genet. 1997 Jul;61(1):120-8. ... The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in two large, systematically ascertained, linked ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
... karyotype with no paternal chromosome 14 contribution. VNTR analysis of loci on four other chromosomes excluded non-paternity ... Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty Eur J Hum ... Chromosomes, Human, Pair 13* * Chromosomes, Human, Pair 14* * Female * Genomic Imprinting * Genotype ... karyotype with no paternal chromosome 14 contribution. VNTR analysis of loci on four other chromosomes excluded non-paternity ...
The repeats are normally several thousand base pairs in length. These sequences constitute about 21% of the human genome. Both ... Eukaryotic chromosome fine structure refers to the structure of sequences for eukaryotic chromosomes. Some fine sequences are ... They may also be involved in fillers for increasing chromosome size to some minimum threshold level necessary for chromosome ... Typical eukaryotic chromosomes contain much more DNA than is classified in the categories above. The DNA may be used as spacing ...
Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 13: entries, gene ... The following is a partial list of genes on human chromosome 13. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 13. Because researchers use different approaches to ... 2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522-8. Bibcode:2004Natur.428..522D. doi: ...
... base pairs) and represents between 3.5 and 4 percent of the total DNA in cells. Learn about health implications of genetic ... Chromosome 13 is made up of about 115 million DNA building blocks ( ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 13, one copy inherited from ... The DNA sequence and analysis of human chromosome 13. Nature. 2004 Apr 1;428(6982):522-8. Citation on PubMed or Free article on ...
There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. The ... called chromosomes. These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. ... These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. www.Options-Trading- ... The human genome is the sum total of all human genes.Human genes are present on long strands of DNA (complex molecules) called ...
Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype Quebec Spinocerebellar Degenerations - ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Measuring chromosome imbalance could clarify cancer prognosis. Most human cells have 23 pairs of chromosomes. Any deviation ... New role in spatial chromosome organization identified for often mutated cancer protein. New research from The Wistar Institute ... Researchers from the Hubrecht Institute and Radboud University have developed a human model in which they use organoids, or ... These countries have high incidences of cervical cancer linked to human papillomavirus ... ...
... human) Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. ... People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of ... "The DNA sequence and analysis of human chromosome 13". Nature 428 (6982): 522-8. PMID 15057823.. ... The following conditions are caused by changes in the structure or number of copies of chromosome 13: * Retinoblastoma: A small ...
Genes are individual segments of DNA and chromosomes are structures which contain many genes packed together. Each chromosome ... while a human being has 46 chromosomes, or 23 pairs. Human chromosomes range from 300 genes to 8,000 genes in size. ... Chromosomes are paired as the offspring receives one from each parent. Chromosomes and sometimes their combination in the pair ... In a chromosome, the DNA is tightly packed together with histone proteins. If all the DNA strands in the human body were laid ...
Human body cells normally have 46 chromosomes arranged in 23 pairs. Pairs of human chromosomes numbered from 1 through 22 are ... Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a ... Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual. ... located on the short arm of chromosome 6 (6p21.1), the XPA gene, located on the long arm of chromosome 9 (9q22.33), and the XPC ...
Chromosomes, Human, Pair 13. Papers overview. Semantic Scholar uses AI to extract papers important to this topic. ...
Ex humans have 46 chromosomes 23 pairs of chromosomes *Source of pairs each parent provides one chromosome of the pair ... 12.2 Chromosome Number 15. 12.2 Chromosome Number*Diploid (2n) a cell with the double set of chromosomes ... 12.2 Chromosome Number*Meiosis process that produces haploid gametes (sperm eggs) *It can also produce spores haploid cells ... Chapter 2 - Title: Chapter 2 Chromosomes and Sexual Reproduction Author: Jill Last modified by: Jill Carroll Created Date: 1/17 ...
A normal human cell contains 23 pairs of chromosomes. Patau Syndrome. Patau syndrome is a result of an extra chromosome in the ... each cell in the human body carries 23 pairs of chromosomes. At conception, when cells begin to divide, an extra chromosome may ... Trisomies can happen on any one of the human bodys 23 chromosomes, and are usually named by number according to the chromosome ... attach to a pair of chromosomes. This creates cells with 47 chromosomes rather than 46. The extra chromosome is usually ...
The Human Condition is a collection of papers by leading evoluti... ... Read chapter 10 Footprints of Nonsentient Design Inside the Human Genome--John C. Avise : ... Because duplicate genes show close sequence similarity, they predispose chromosomes to pair abnormally during meiosis. Such ... PART I: HUMAN PHYLOGENETIC HISTORY AND THE PALEONTOLOGICAL RECORD 1-4 * 1 Reconstructing Human Evolution: Achievements, ...
Chromosome Disorders Chromosome Banding Ring Chromosomes Multiple Abnormalities Chromosomes, Human, Pair 13 ... Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. Molecular Biology ... Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. / Stetten, G.; ... title = "Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13", ...
Human somatic cells (any cell other than a gamete) have 23 pairs of chromosomes. (have 2 of every chromosome) ... At the metaphase plate, there are paired homologous chromosomes (tetrads), instead of individual replicated chromosomes. -At ... each pair of chromosomes sorts maternal and paternal homologs into daughter cells independently (differently) of the other ... each half of the cell has a haploid set of chromosomes; each chromosome still consists of two sister chromatids ...
Wierzbowski AP Biology Chapter 13 Meiosis and Sexual Life Cycles A. Introduction to Heredity a. Legacy of the Genome i. A ... b. Human Life Cycle i. A somatic cell is a non-sexual cell (46 chromosomes). ii. Every chromosome is different inside a cell. ... iii. Every chromosome in the somatic cell has a matching copy. These are known as a homologous pair. ... Wierzbowski AP Biology Chapter 13 Meiosis and Sexual Life Cycles A. Introduction to Heredity a. Legacy of the Genome i. A ...
In humans, mitochondrial DNA spans about 16,500 DNA building blocks (base pairs), representing a small fraction of the total ... Can changes in the number of chromosomes affect health and development?. *Can changes in the structure of chromosomes affect ... Thirteen of these genes provide instructions for making enzymes involved in oxidative phosphorylation. Oxidative ... Common genetic changes in the MT-RNR1 gene can make the 12S RNA in human cells look similar to bacterial ribosomal RNA. As a ...
Nucleotide Base Pair Base pairs only join in certain combinations: A denine- T hymine G uanine- C ytosine Chromosomes of humans ... So, chromosomes in eukaryotes are in pairs -- one set from each parent. For a species to survive, it must reproduce. In nature ... why arent half of our gametes exactly like the chromosomes of our mother? And the other half exactly like the chromosomes of ... What about in prokaryotes? -- in both prokaryotes and eukaryotes, a gene is one section of a chromosome . * Genes vary in ...
Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science (Washington DC), 219: 971- ... We detected shifted bands by using seven primer pairs, and in all cases, the same mobility shift was also observed in the ... Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science (Washington DC), 208: ... Lu S. H., Hsieh L. L., Luo F. C., Weinstein I. B. Amplification of the EGF receptor and c-myc genes in human esophageal cancers ...
... evolutionists claim that two chimp chromosomes fused to become one, but the power of the evolutionary paradigm trumps other ... Humans have 23 chromosome pairs, as we inherit 23 chromosomes from our father and 23 from our mother. Chimps inherit 24 ... Two pairs of human chromosomes had been found to be fused, he said, providing clear evidence of our shared ancestry with apes.3 ... If humans had been found to have 24 chromosome pairs, this would have been understood as evidence for common ancestry with apes ...
The human genome comprises about 3 billion nucleotides organized into 23 chromosome pairs. Each chromosome comprises DNA and ... The isolated sequences are no longer located on a human chromosome and therefore are not necessarily assembled in the native ... While a human body does transcribe a gene into mRNA, which is then translated into a protein, the human body does not isolate ... Genes and human genetic sequences are comprised of DNA. The term DNA is an acronym for a chemical compound which is also known ...
24 pairs) and humans carry a fused chromosome; or ancestor had 23 pairs and apes carry split chromosomes. Chromo types: ... "fused chromosomes in humans" to be interesting and thought provoking. If according to Dr. Ken Miller - the 2 human chromosomes ... The evolutionary hypothesis of common ancestry says that our chromosome numbers are very close to the great apes: less 2. Human ... If humans was the product of this supposed "fusing" of genes of the "great apes" - why do we posses qualities such as: love, ...
The number of chromosomes a nucleus contains will change from species to species (humans have forty-six chromosomes). Also ... The homologous chromosomal pairs (matching chromosomes derived from mother and father) do not necessarily lie next to each ... The human genome contains 180 rRNA genes located on the tips of five different chromosomes (chromosomes 13, 14, 15, 21, and 22 ... Chromosomes fill much of the nuclear interior, with each chromosome occupying its own neighborhood. In differentiated human ...
28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 13 L in a B D ??. 25 52 W in a Y 52 weeks in a year 26 9 L of a C 9 lives of a cat 27 60 M in a H 60 minutes in a hour 28 23 P ... 13 S in the USF ??. 8 18 H on a G C 18 holes on a golf course 9 39 B of the O T ??. 10 5 T on a F ??. 11 90 D in a R A 90 ...
In humans, the 22 pairs of chromosomes that dont include the sex chromosomes are called? ... A human cell has 46 total or 23 pairs of chromosomes. Following mitosis, the daughter cells would each have a total of ______ ... chromosomes. After meiosis I, the two daughter cells would have _____chromosomes, and after meiosis II ______ chromosomes. ... What are the replicated forms of a chromosome joined together by the centromere and eventually separated during mitosis or ...
1997) Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic ... 1999) Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proc Natl Acad Sci U S A 96: ... 2000) Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in a paired-sibling analysis ... 1997) New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes 46: 876-881. * View Article ...
one of the pair of chromosomes numbered 13 is missing: there is a deletion. of one gene, or allele, from one chromosome of the ... Moreover, many other solid human tumours. lose the initial heterozygosity of the chromosomes. ... which part of a chromosome becomes deleted, leading to the loss of a normal. gene from one of a pair of matching (homologous) ... chromosomes. To test this. idea, Cavenee first looked at retinoblastoma, a rare human cancer of the. eye known to run in ...
  • Results of VNTR and CA repeat analyses of ten loci along the entire length of chromosome 14 were consistent with homozygosity at all loci, suggesting that the chromosomal rearrangement was a maternal isochromosome for 14q. (nih.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 13. (medlineplus.gov)
  • In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. (wikipedia.org)
  • Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). (wikipedia.org)
  • The homologous chromosomal pairs (matching chromosomes derived from mother and father) do not necessarily lie next to each other. (encyclopedia.com)
  • BETHESDA, MD - Adding non-invasive prenatal genetic screening (NIPS) for fetal chromosomal abnormalities to the current prenatal testing strategy in Quebec would be more cost-effective than current approaches based on blood tests and amniocentesis, according to research presented at the American Society of Human Genetics (ASHG) 2016 Annual Meeting in Vancouver, B.C. (ashg.org)
  • A chromosomal disorder is a chromosome anomaly, abnormality, or aberration is a missing, extra, or irregular portion of chromosomal DNA. (majortests.com)
  • STS-amplification mapping was applied to the DNA from 75 normal-tumor paired esophageal samples using STS markers in the chromosomal vicinity of the three cloned restriction fragments to define the frequency and extent of amplification. (aacrjournals.org)
  • What is the chromosomal make-up of humans? (brainscape.com)
  • By examining the chromosomal homologies defined by chromosome painting among two representatives of the subfamily Glossophaginae ( Glossophaga soricina and Anoura cultrata ) and one species from the subfamily Lonchophyllinae ( Lonchophylla concava ), we found chromosomal correspondence in regions not previously detected by other comparative cytogenetic techniques. (biomedcentral.com)
  • We proposed the corresponding human chromosomal segments for chromosomes of the investigated species and found two syntenic associations shared by G. soricina and A. cultrata . (biomedcentral.com)
  • Comparative painting with whole chromosome-specific paints of M. californicus demonstrates an extensive chromosomal reorganization within the two lineages of nectarivorous phyllostomids, with a large number of chromosomes shared between M. californicus and G. soricina . (biomedcentral.com)
  • Of these, chromosome painting is the method of choice for reconstructing ancestral chromosomal associations in comparative interspecific research. (biomedcentral.com)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • A rearrangement (translocation) of genetic material involving chromosome 13 has been identified in most people with a rare blood cancer called 8p11 myeloproliferative syndrome. (medlineplus.gov)
  • This genetic change fuses part of the ZMYM2 gene on chromosome 13 with part of the FGFR1 gene on chromosome 8. (medlineplus.gov)
  • Feingold syndrome type 2 is caused by genetic changes that remove (delete) small pieces of DNA from the long (q) arm of chromosome 13. (medlineplus.gov)
  • Any deviation from this number can be fatal for cells, and several genetic disorders, such as Down syndrome, are caused by abnormal numbers of chromosomes. (medicalxpress.com)
  • The family of genetic conditions known as "trisomies" happen when certain cells have three, rather then two, chromosomes . (wisegeek.com)
  • Trisomy is a genetic condition in which cells have an extra chromosome. (wisegeek.com)
  • This genetic defect is present in all tissues but, for some reason, tumours arise in cells of the retina that experience the second step: the loss of the normal allele of the gene on their other chromosome 13. (newscientist.com)
  • Returning to Nowell's model, the early event in retinoblastoma would create a genetic predisposition to this form of cancer caused by the presence of one normal and one defective chromosome 13. (newscientist.com)
  • The ATM gene is mutated in the human genetic disorder ataxia telangiectasia ( 58 ). (asm.org)
  • A distinguishing characteristic of eukaryotes, the nucleus contains the genetic information ( genome ) of the cell in the form of its chromosomes. (encyclopedia.com)
  • A genetic linkage map shows the relative locations of specific DNA markers along the chromosome. (lsu.edu)
  • The human genetic linkage map is constructed by observing how frequently two markers are inherited together. (lsu.edu)
  • The current resolution of most human genetic map regions is about 10 Mb. (lsu.edu)
  • In 1903, early geneticist Walter Sutton put two and two together, discovering through his work on grasshopper chromosomes that these mysterious filaments occur in pairs and separate during meiosis, providing a vehicle for mom and dad to pass on their genetic material. (livescience.com)
  • Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. (rarediseases.org)
  • X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. (rarediseases.org)
  • 1) List three ways that genetic engineering could be used to improve the lives of humans. (slideserve.com)
  • 2) What are some common genetic disorders that afflict the human population that may be treatable with DNA biotechnology? (slideserve.com)
  • Because we get one copy of each chromosome from our mother and one from our father, there are two numbers for each locus, which appear as peaks on an electropherogram, a chart produced by a genetic analyzer. (sciencemag.org)
  • Newer research has suggested that there is approximately 96% genetic similarity between Humans and chimpanzees overall. (answers.com)
  • Genetic differences between humans and great apes. (answers.com)
  • Human karyotype Genetic diseases composed of? (prezi.com)
  • Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
  • Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
  • Allelic mutation on chromosome 19 has previously been reported as a frequent genetic event in human glial tumors. (elsevier.com)
  • Ambry Genetics was one of the first companies to announce that it would provide genetic diagnostic testing for the BRCA 1 and BRCA 2 genes on the day the U.S. Supreme Court announced its decision in AMP v. Myriad Genetics on the question of "whether human genes are patentable. (jdsupra.com)
  • In 1953, James Watson and Francis Crick identified the double helix structure of DNA, and realized that the order of the base pairs held a treasure trove of genetic information. (nextnature.net)
  • How accurate is the new test (genomics-based non-invasive prenatal testing (gNIPT)) for detecting abnormal chromosome number in an unborn baby's genetic material (DNA) found in the mother's blood? (cochrane.org)
  • Abnormal numbers of chromosomes can cause genetic disorders for which there are no cures. (cochrane.org)
  • Human Molecular Genetics. (wikipedia.org)
  • Respondent Myriad Genetics, Inc. (Myriad), discovered the precise location and [2111] sequence of two human genes, mutations of which can substantially increase the risks of breast and ovarian cancer. (harvard.edu)
  • Tom Strachan and Andrew P. Read, Human Molecular Genetics 2 (2nd ed. (lifeissues.net)
  • In a milestone for the understanding of human genetics, scientists announced in September 2012 the results of five years of work in unraveling the secrets of how the genome operates. (livescience.com)
  • 13-1 The New Genetics. (slideserve.com)
  • Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome Research Institute (NHGRI) investigator in the Genetics and Molecular Biology Branch and head of the Genome Instability Section. (genome.gov)
  • In genetics , attention is focused on the numbers of chromosomes . (wikipedia.org)
  • The opinion in Association for Molecular Pathology v. Myriad Genetics, Inc. striking down patents on naturally occurring human genes, even if they've been isolated. (groklaw.net)
  • Part of one of the pair of chromosomes numbered 13 is missing: there is a deletion of one gene, or allele, from one chromosome of the pair. (newscientist.com)
  • To define the precise region of chromosome 13q involved in ESC, we examined 60 ESC specimens with 18 microsatellite markers on 13q and constructed a detailed deletion map. (aacrjournals.org)
  • An established, human promyelocytic leukemia cell line, HL60, contains a rearranged, partially deleted GM-CSF allele and a candidate 5q- marker chromosome, indicating that the truncated GM-CSF allele may reside at the rejoining point for the interstitial deletion on the HL60 marker chromosome. (sciencemag.org)
  • YACs containing a 31-bp deletion mutation in centromere DNA element II (CDEII delta 31) in either a heterocentric (mutant/wild type), homocentric (mutant/mutant) or monosomic (mutant/--) YAC pair configuration exhibited high levels (16-28%) of precocious sister-chromatid segregation (PSS) and increased levels (1-6%) of nondisjunction meiosis I (NDI). (genetics.org)
  • Overexpression of each human transcript in zebrafish embryos identified KCTD13 as the sole message capable of inducing the microcephaly phenotype associated with the 16p11.2 duplication 2, 3, 4, 5 , whereas suppression of the same locus yielded the macrocephalic phenotype associated with the 16p11.2 deletion 5, 6 , capturing the mirror phenotypes of humans. (zfin.org)
  • or one arm or part of one arm of a single chromosome may be missing (deletion). (britannica.com)
  • Partial deletion of chromosome 19 occurred more frequently (31/37 cases) than did loss of one whole copy of the chromosome, and a morphology- specific pattern of LOH was observed. (elsevier.com)
  • In 12/14 (86%) instances of chromosome 19 deletion in oligodendrogliomas and MOA, the 19q arm showed LOH, whereas the 19p arm showed no loss for all informative loci. (elsevier.com)
  • Conversely, in 17/23 (74%) instances of chromosome 19 deletion in astrocytomas, the 19p arm showed LOH, whereas the 19q arm showed no loss for one or more loci. (elsevier.com)
  • We subsequently studied distal deletions using the D13S25 probe (13q14.3) and a subtelomeric probe (13qSTP) for the 13q-arm (D13S327) in 40 cases with documented LSI 13 (Rb)/D13S319 deletion and 40 without deletion of these loci. (umn.edu)
  • Of 40 patients with LSI 13 (Rb)/D13S319 deletions, 34 (85%) had coexistent deletion of both D13S25/13qSTP. (umn.edu)
  • These deletions appear to predominantly involve loss of large segments of the 13q arm or monosomy 13, and only occasionally represent an interstitial deletion. (umn.edu)
  • How can my babies health be affected with deletion chromosome 2? (healthtap.com)
  • Is chromosome deletion a probable cause of cerebral palsy? (healthtap.com)
  • My daughter has deletion 22q chromosome syndrome. (healthtap.com)
  • Can dental x-rays without precaution cause chromosome deletion to the baby? (healthtap.com)
  • My 3 year old son has 47 chomosome with a deletion in the chromosome 7 nobody knows the cause for severe anemia and hypoproteinemia. (healthtap.com)
  • Bookstein R, Lee EY-HP, To H, Young LJ, Sery TW, Hayes RC, Friedmann T, Lee W-H (1988) Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants. (springer.com)
  • At conception, when cells begin to divide, an extra chromosome may attach to a pair of chromosomes. (wisegeek.com)
  • The extra chromosome is usually expressed with distinctive physical and mental characteristics. (wisegeek.com)
  • An individual born with an extra chromosome may be able to function fairly normally. (wisegeek.com)
  • Trisomies are typically numbered according to the location of the extra chromosome in relation to the 23 present in the chain. (wisegeek.com)
  • Heart and organ problems are common as well, but many if not most people with this extra chromosome do survive to adulthood. (wisegeek.com)
  • Full trisomies occur when every cell in the body has an extra chromosome. (wisegeek.com)
  • Patau syndrome is a result of an extra chromosome in the 13th location, and is also known as Trisomy 13. (wisegeek.com)
  • In mosaic trisomies, only some cells contain the extra chromosome. (wisegeek.com)
  • People with partial trisomies have just part of the extra chromosome in their cells. (wisegeek.com)
  • In Jul 1958, while examining the chromosomes of a so-called "Mongol" child, Lejeune discovered the existence of an extra chromosome on the 21st pair. (todayinsci.com)
  • and Edwards' syndrome, in which there is an extra chromosome 18 ( trisomy 18 ). (encyclopedia.com)
  • an extra chromosome 21 (trisomy 21). (britannica.com)
  • Having an extra chromosome is called trisomy and an excess (or less) of sexual chromosome is called sex chromosome abnormality (SCA). (cochrane.org)
  • Chromosome 13 is made up of about 115 million DNA building blocks (base pairs) and represents between 3.5 and 4 percent of the total DNA in cells. (medlineplus.gov)
  • Chromosome 13 spans about 114 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells. (wikipedia.org)
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (bionity.com)
  • In humans, mitochondrial DNA spans about 16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells. (medlineplus.gov)
  • The most common form of CFAP298 mRNA has 1427 base pairs broken into seven exons. (wikipedia.org)
  • DNA is a double helix molecule made up of nucleotides with their base pairs joined by hydrogen bonding. (coursehero.com)
  • A denine- T hymine G uanine- C ytosine Chromosomes of humans have about 3.2 billion base pairs. (coursehero.com)
  • Each set of three base pairs (of a gene) codes for a specific amino acid in a protein chain. (coursehero.com)
  • The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
  • Ultraviolet radiation inflicts fairly minor changes to DNA, often affecting just one or two of the approximately three billion base pairs in the human genome. (genome.gov)
  • The yeast genome contains just over 12 million base pairs of DNA packaged within 16 chromosomes. (genome.gov)
  • A human DNA strand has 3 billion base pairs. (worldofweirdthings.com)
  • The DNA in the two BRCA genes, like that in other human genes, is a double helical molecule, each side of which is joined, like the rungs of a ladder, by two complementary chemicals called base pairs-adenine, which always links to thymine, and cytosine, which always links to guanine. (nybooks.com)
  • TAAAA)(n) is five base pairs that repeats a variable number of times on the opposite DNA strand. (wikidoc.org)
  • How many base pairs of DNA do humans have in each somatic cell of our bodies? (brainscape.com)
  • In 2003, when the Human Genome Project was completed (after 13 years and $2.7 billion), we learned the order of the genome's 3 billion base pairs, and the location of specific genes on our chromosomes. (nextnature.net)
  • and 6) human SMN2 exon 8 including the 3'UTR and polyA signal with several hundred base pairs of flanking sequence. (jax.org)
  • I had my complete genome sequenced a few years ago - all six billion base pairs of it. (medicalxpress.com)
  • A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. (bionity.com)
  • The GM-CSF gene was localized by somatic cell hybrid analysis and in situ hybridization to human chromosome region 5q21-5q32, which is involved in interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. (sciencemag.org)
  • Structural abnormalities of the autosomes also occur, including translocations of large pieces of chromosomes as well as smaller deletions, insertions, or rearrangements. (britannica.com)
  • Deletions of the long arm of chromosome 13 (13q-) are observed in patients with multiple myeloma (MM), are rarely observed in the monoclonal gammopathy of undetermined significance (MGUS) and have been associated with a worsened prognosis in MM. However, no minimally deleted region in the 13q arm has been defined at 13q, and consequently no tumor suppressor genes have yet been identified that are important for disease pathogenesis. (umn.edu)
  • We attempted to characterize these chromosome 13q deletions at the molecular cytogenetic level. (umn.edu)
  • Of 325 evaluable patients, we found 13q deletions in 176 (54%) using LSI 13 (Rb) and D13S319 probes. (umn.edu)
  • These results indicate that chromosome 13 deletions in MM involve loss of most if not all of the 13q arm perhaps even indicating monosomy. (umn.edu)
  • In 39 of the 40 cases without LSI 13 (Rb)/D13S319 deletions, the normal pattern of two pairs of signals was observed for D13S25/13qSTP. (umn.edu)
  • Kids with chromosome deletions can have issues that mimic CP and some may suffer the same neurologic injury. (healthtap.com)
  • Detect duplications or deletions of entire chromosomes within a day, using Ion Reporter Software, at significantly lower cost than karyotyping. (thermofisher.com)
  • BACKGROUND: The finding of hemizygous or homozygous deletions at band 14 on chromosome 13 in a variety of neoplasms suggests the presence of a tumor-suppressor locus telomeric to the RB1 gene. (elsevier.com)
  • At least some of these events are aberrations of the chromosomes, in which part of a chromosome becomes deleted, leading to the loss of a normal gene from one of a pair of matching (homologous) chromosomes. (newscientist.com)
  • Diploid refers to the presence of two sets of homologous chromosomes: 23 pairs, making a total of 46. (lifeissues.net)
  • trisomy The condition of a nucleus, cell, or organism in which one of the pairs of homologous chromosomes has gained an additional chromosome, resulting in a chromosome number of 2 n + 1 (see aneuploid ). (encyclopedia.com)
  • The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in two large, systematically ascertained, linked families, by use of a maximum-likelihood method to incorporate both cancer-incidence data and 13q marker typings in the families. (nih.gov)
  • We have examined the structure and expression of the Rb gene on chromosome 13 in matched pairs of normal and malignant colonic tissues from 68 patients. (springer.com)
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (medlineplus.gov)
  • In some cases, trisomy 13 occurs when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. (medlineplus.gov)
  • Most human cells have 23 pairs of chromosomes. (medicalxpress.com)
  • What kind of cells would only have ½ the number of chromosomes? (powershow.com)
  • This creates cells with 47 chromosomes rather than 46. (wisegeek.com)
  • Human somatic cells contain how many chromosomes? (proprofs.com)
  • The process of meiosis produces four cells with nonidentical chromosomes. (proprofs.com)
  • Following mitosis, the daughter cells would each have a total of ______ chromosomes. (proprofs.com)
  • After meiosis I, the two daughter cells would have _____chromosomes, and after meiosis II ______ chromosomes. (proprofs.com)
  • In addition, this study implicates ATR as a direct upstream activator of Chk1 in human cells. (asm.org)
  • After the chromosomes have segregated to the new daughter cells, the nucleus and its components must be rebuilt. (encyclopedia.com)
  • In humans, OSCAR is expressed by macrophages, monocytes, and monocyte-derived dendritic cells and modulates the response of the innate and adaptive immune systems by promoting cell activation and maturation, Ag presentation, and proinflammatory circuits. (jimmunol.org)
  • Healthy human body cells contain 23 pairs of chromosomes, for a total of 46. (ashg.org)
  • During the normal production of sperm and egg cells, DNA strands occasionally break and rejoin in different places on the same chromosome or on the other copy of the same chromosome (i.e., the homologous chromosome). (lsu.edu)
  • In normal human cells there are 23 pairs of chromosomes. (getrevising.co.uk)
  • Human body cells normally have 46 chromosomes. (rarediseases.org)
  • Her work on understanding how cells control the decisions to divide and the effects of imbalances in chromosome number has helped shape how we think about normal development and disease. (mit.edu)
  • Most living cells have a defined number of chromosomes. (mit.edu)
  • However, as cells divide, they can make errors that lead to a gain or loss of chromosomes. (mit.edu)
  • The Y chromosome spans more than 59 million building blocks of DNA and represents almost 2 percent of the total DNA in cells. (dailymail.co.uk)
  • On a grainy, gray backdrop, he points out the dark gray ovals marking the boundaries of three human cells. (genome.gov)
  • In humans, genomic amplification is exclusively restricted to tumor cells and is a major mechanism for the activation of dominant-acting oncogenes during tumorigenesis. (aacrjournals.org)
  • Human granulocyte-macrophage colony-stimulating factor (GM-CSF) is a 22,000-dalton glycoprotein that stimulates the growth of myeloid progenitor cells and acts directly on mature neutrophils. (sciencemag.org)
  • In this particular experiment, the Y chromosomes were extracted from cells in culture. (blogspot.com)
  • To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
  • Nucleolus cycle in human cells. (biologists.org)
  • It is the DNA in the nucleus of all living cells that directs the life activities of all living cells and hence of all living organisms, plant, animal and human. (hawkhill.com)
  • In mouse cells that contain individual human chromosomes, UBF can be found associated with human rDNA despite its transcriptional silence ( 55 ). (asm.org)
  • Antibody staining of metaphase chromosomes confirms the presence of two classes of NOR in human cells, active and inactive ( 21 , 50 , 61 ). (asm.org)
  • Human rhabdomyosarcoma cells express functional pituitary and gonadal sex hormone receptors: Therapeutic implications. (cancerindex.org)
  • Treatment of normal cells with γ-radiation caused a dissociation of the γ- from the X-chromosome. (ubc.ca)
  • 22 ] showed that human cytomegalovirus (HCMV) miRNA, miR-UL112, inhibits the translation of a cellular gene MICB, which is normally activated when cells are subjected to severe stress, such as viral infection. (biomedcentral.com)
  • Most normal human somatic cells contain a diploid (2N) set of autosomes (non-sex chromosomes) and a pair of sex chromosomes. (thermofisher.com)
  • All glioblastomas show a loss of heterozygosity in chromosome 10. (newscientist.com)
  • Allelotype analysis of whole chromosomes showed that loss of heterozygosity (LOH) on 13q was exclusively associated with lymph node metastasis and poor prognosis in esophageal squamous cell carcinoma (ESC). (aacrjournals.org)
  • Ritland, SR, Ganju, V & Jenkins, RB 1995, ' Region-specific loss of heterozygosity on chromosome 19 is related to the morphologic type of human glioma ', Genes Chromosomes and Cancer , vol. 12, no. 4, pp. 277-282. (elsevier.com)
  • 8p11 myeloproliferative syndrome most commonly results from a translocation between chromosome 13 and chromosome 8, written as t(8;13)(p11;q12). (medlineplus.gov)
  • These cases are called translocation trisomy 13. (wikipedia.org)
  • Antonarakis, S. E. / Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13 . (elsevier.com)
  • Common types of aneuploidy are monosomy (the loss of one chromosome) of the X chromosome in females-Turner syndrome (45, X)-and some trisomies, three copies of a given chromosome in a diploid cell. (thermofisher.com)
  • A few animal species and many plant species, however, are the result of hybrid speciation , including important crop plants such as wheat , where the number of chromosomes has been doubled. (wikipedia.org)
  • Human impact on the environment has resulted in an increase in the interbreeding between regional species, and the proliferation of introduced species worldwide has also resulted in an increase in hybridisation. (wikipedia.org)
  • A form of often intentional human-mediated hybridisation is the crossing of wild and domesticated species. (wikipedia.org)
  • Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
  • Two genetically dissimilar individuals of the same species like any two human beings except monozygotic twins. (tripod.com)
  • The pithiest summary of it is that it is a project to determine the sequence of the structure of all the DNA of the human species. (hawkhill.com)
  • To better understand the evolutionary relationships within Phyllostomidae, we developed chromosome paints from the bat species Macrotus californicus . (biomedcentral.com)
  • The number of chromosomes of a species has little to do with the complexity of the organism or the amount of DNA. (thethinkingatheist.com)
  • Bio 181 Chapter 12 And 13. (proprofs.com)
  • Take up the Bio 181 Chapter 12 and 13 on Meiosis and Mitosis and see how well you understood it. (proprofs.com)
  • What are the replicated forms of a chromosome joined together by the centromere and eventually separated during mitosis or meiosis II? (proprofs.com)
  • We have employed a system that utilizes homologous pairs of human DNA-derived yeast artificial chromosomes (YACs) as marker chromosomes to assess the specific role(s) of conserved centromere DNA elements (CDEI, CDEII and CDEIII) in meiotic chromosome disjunction fidelity. (genetics.org)
  • Thirteen different centromere (CEN) mutations were tested for their effects on meiotic centromere function. (genetics.org)
  • A chromosome with its centromere towards one end. (tripod.com)
  • FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (ubc.ca)
  • Mitosis - duplication of nucleus, giving two identical sets of chromosomes. (coursehero.com)
  • Over the next several decades, scientists peering deeper into the cell discovered mitosis and meiosis, the two types of cell division, and chromosomes , the long strands of DNA and protein in cell nuclei. (livescience.com)
  • During mitosis, DNA is packaged into chromosomes. (brainscape.com)
  • Trisomies can happen on any one of the human body's 23 chromosomes, and are usually named by number according to the chromosome to which they're attached. (wisegeek.com)
  • Some conditions, known as full trisomies, impact nearly every chromosome, while so-called " mosaic " conditions affect just a smattering. (wisegeek.com)
  • Trisomies can and do occur on any chromosome other then 21, 18, or 13, but they rarely result in live births. (wisegeek.com)
  • Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high- risk populations. (cochrane.org)
  • Other chromosome imbalances include trisomies of chromosomes 13 (Patau syndrome), 18 (Edwards syndrome), and 21 (Down syndrome), as with the presence of extra sex chromosomes, such as in Klinefelter syndrome (47, XXY) and Triplo-X syndrome (47, XXX). (thermofisher.com)
  • The emergence of a syndrome associated with maternal UPD 14 suggests the possibility of genomic imprinting of regions of chromosome 14, especially a gene involved in the onset of puberty. (nih.gov)
  • The work was carried out in the UK at the Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, which also carried out one-third of the human genome sequencing programme , and in the USA at The Institute for Genomic Research and Stanford University . (sanger.ac.uk)
  • Genomic amplification is observed in many, if not all, types of human malignancy and is one of the mechanisms for the activation of dominant-acting oncogenes in tumorigenesis. (aacrjournals.org)
  • Genomic amplification is commonly observed in many types of human malignancies, including esophageal adenocarcinoma. (aacrjournals.org)
  • A full-length complementary DNA clone encoding human GM-CSF was used as a probe to screen a human genomic library and isolate the gene encoding human GM-CSF. (sciencemag.org)
  • DNA methylation is a common epigenetic marker and plays important roles in the regulation of gene expression, genomic imprinting, X-chromosome inactivation, embryonic development, and cancer5. (ubc.ca)
  • However, errors during the cell replication process can cause the chromosomes to distribute unevenly, a condition known as aneuploidy. (ashg.org)
  • Amon, the Kathleen and Curtis Marble Professor in Cancer Research and a member of MIT's Koch Institute for Integrative Cancer Research, was honored for her work in determining the consequences of aneuploidy, an abnormal chromosome number that results from mis-segregation of chromosomes during cell division. (mit.edu)
  • Could be myelodysplastic syndrome with fanconi's anemia , or one of several other aberrations that may arise from chromosome 7 abnormalities. (healthtap.com)
  • Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. (medlineplus.gov)
  • or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. (google.com)
  • It is within the nucleus that the DNA in the chromosomes is duplicated prior to cell division and where the RNAs are synthesized. (encyclopedia.com)
  • Although the chromosomes of a nucleus appear as a diffuse network in the electron microscope, they are highly compacted into nucleosomal units. (encyclopedia.com)
  • The heterochromatin of any given chromosome is found within its territory close to the nuclear envelope (Figure 1), but can often project into the interior of the nucleus as patches and/or surround the nucleolus. (encyclopedia.com)
  • These data indicate that two or more tumor suppressor genes may reside on chromosome 19, one on 19p important in the development of astrocytomas, and one on 19q important in oligodendrogliomas and MOA. (elsevier.com)
  • In humans, the 22 other pairs of chromosomes - the autosomes - are identical. (dailymail.co.uk)
  • We assessed the accuracy for the screening of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome. (cochrane.org)
  • We found frequent loss at D13S260 (43.7%), D13S171 (38.6%), and D13S267 (43.6%) on 13q12-13. (aacrjournals.org)
  • Taken together, allelic loss at 13q12-13 of the primary ESC was closely associated with lymph node metastasis, and unidentified tumor suppressor gene(s) in this region might be involved. (aacrjournals.org)
  • one is between D13S260 and D13S267 , which flank the BRCA2 gene on 13q12-13, and the other is in the RB1 locus. (aacrjournals.org)
  • Genes Chromosomes and Cancer , 12 (4), 277-282. (elsevier.com)
  • In 2001 in a White House ceremony Dr. Francis Collins, head of The Human Genome Project and Dr. J. Craig Venter, president of a private company Celera Genomics joined with then President Clinton to announce the first working draft of the Human Genome. (hawkhill.com)
  • Using comparative genomics a large number of sequences that have signals concordant with conserved RNA secondary structures have been discovered in the human genome. (biomedcentral.com)
  • The complexity of the organism usually predicts the number of genes and chromosomes. (reference.com)
  • It is the only chromosome in an organism that isn't essential for life - women survive just fine without one, after all. (dailymail.co.uk)
  • When cell division occurs during reproduction, the chromatin forms with the DNA into a chromosome. (reference.com)
  • Previous research using microdensitometric scanning and computer graphic image analysis showed that T-banded segments of human metaphase chromosomes usually exhibit an asymmetrical distribution of high density (HD) chromatin between sister chromatids. (scielo.br)
  • Here, we employed the same methods to analyze HD chromatin distribution at opposite ends of T-banded human lymphocyte chromosomes. (scielo.br)
  • This study revealed that in most chromosomes with an asymmetrical distribution of HD chromatin at both ends, the highest densities of each arm were located in opposite chromatids. (scielo.br)
  • The frequency of this configuration was 0.792 per chromosome, indicating that the highest chromatin densities of the terminal segments of T-banded human chromosomes were non-randomly distributed at opposite chromosome arms. (scielo.br)
  • Microdensitometric scanning and computer graphic image analysis of high-resolution microphotographs of T-banded segments of human and Chinese Hamster Ovary (CHO) chromosomes allowed the detection of a differential distribution of HD sub-telomeric chromatin between sister chromatids. (scielo.br)
  • These patterns were confirmed by scanning T-banded endoreduplicated CHO chromosomes in which the same interchromatid distribution of HD chromatin appeared in both sister chromosomes (Drets and Mendizábal, 1998). (scielo.br)
  • Nevertheless, quantitative computerized microdensitometrical analyses on the distribution of HD chromatin at opposite ends of T-banded chromosomes have not yet been reported. (scielo.br)
  • Therefore, we performed microdensitometric scanning and computer graphic image analysis to study HD chromatin distribution at T-banded human chromosomes that showed asymmetry at opposite ends. (scielo.br)
  • When the chromosomes reach the mitotic poles, the nuclear envelope reforms while chromatin decondenses to form chromosome territories (for a review, see Cremer and Cremer, 2001 ). (biologists.org)
  • Here, we utilize chromatin immunoprecipitation from a highly enriched nucleolar chromatin fraction to show for the first time that UBF binding in vivo is not restricted to known regulatory sequences but extends across the entire intergenic spacer and transcribed region of Xenopus , human, and mouse rDNA repeats. (asm.org)
  • This gene is located on a region of the q arm of chromosome 13 designated 13q14. (medlineplus.gov)
  • LSI 13 (Rb) and D13S319, which hybridize to 13q14. (umn.edu)
  • Whole Genome Shotgun Sequencing (WGSS) was subsequently performed on the Hulk, from which chromosome γ was assembled and Bacterial Artificial Chromosomes (BAC) were created. (ubc.ca)
  • The Y chromosomes differed by four mutations in 10.15 × 10 6 bp. (blogspot.com)
  • 1 These are neutral mutations and the rate works out to 3.0 × 10 -8 mutations per base pair per generation. (blogspot.com)
  • X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • Loss-of function mutations in NALCN on chromosome 13q, a sodium leak channel that maintains baseline neuronal excitability, cause infantile hypotonia with psychomotor retardation and characteristic faces 1 (IHPRF1, OMIM #615419). (elsevier.com)
  • Our observations of the two patients with postnatal dyspnea and one patient with sleep disturbance support an association between these two behavioral phenotypes and NALCN mutations in humans. (elsevier.com)
  • As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. (wikipedia.org)
  • The most common mutation affects the 21st chromosome, and is usually diagnosed as Down syndrome. (wisegeek.com)
  • Trisomy 21 , also called Down syndrome, is the most common mutation and happens when there are three chromosomes in the 21st location. (wisegeek.com)
  • A mutation at the 16th chromosome, for instance, is thought to occur in about 1% percent of all pregnancies, but these pregnancies usually result in miscarriages during the first trimester due to severe defects in the fetus . (wisegeek.com)
  • Most of the time, modern ultrasound technology and prenatal screening can detect likely cases of chromosome mutation well before delivery. (wisegeek.com)
  • This is the fourth in a series of posts on human mutation rates and their implication(s). (blogspot.com)
  • There are basically three ways to estimate the mutation rate in the human lineage. (blogspot.com)
  • Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples. (thefreelibrary.com)
  • G, derived from heterozygous parents, while Patient 2 had a partial maternal uniparental isodisomy that harbored a frameshift mutation, that is c.2022_2023delAT, in chromosome 13 that was detected through a dedicated algorithm for homozygosity data mapping in whole exome sequencing. (elsevier.com)
  • Mutation in the TENM3/ODZ3 gene in humans has been associated with the eye condition, microphthalmia. (wikipedia.org)
  • Cytogenetic and molecular investigation of a boy with precocious puberty and motor developmental delay revealed a 45,XY,t(14q14q) or i(14q) karyotype with no paternal chromosome 14 contribution. (nih.gov)
  • The ultimate goal of genome research is to find all the genes in the DNA sequence and to develop tools for using this information in the study of human biology and medicine. (lsu.edu)
  • Using the sequence tagged site-amplification mapping approach, we defined the core-amplified domain by screening 75 normal-tumor paired esophageal samples. (aacrjournals.org)
  • It was occupied by a diverse sequence of human cultures that were different from both the farming populations of the Yellow River Valley and the nomads of the Eurasian steppe [ 1 ]. (biomedcentral.com)
  • Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene. (jdsupra.com)
  • Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1. (jdsupra.com)
  • A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene. (jdsupra.com)
  • 10 Mb up to whole chromosomes are commonly associated with human reproductive viability. (thermofisher.com)
  • O … f course the fine details depend on what specific chromosomes one is looking at. (answers.com)
  • 2004) confer high resistance to heat denaturation to the terminal regions of metaphase chromosomes which results in selective staining after T-banding (Dutrillaux, 1973). (scielo.br)
  • 1998. 'Evolution of chromosome Y in primates. (answers.com)
  • Human genes are present on long strands of DNA (complex molecules) called chromosomes. (slideshare.net)
  • These strands are paired, connected side to side along their lengths. (slideshare.net)
  • Each chromosome contains one DNA molecule and each DNA molecule contains several genes or individual strands. (reference.com)
  • If all the DNA strands in the human body were laid end to end, they would form a very thin strand about 6 billion miles long. (reference.com)
  • Chromosomes are strands of DNA wound around some proteins. (coursehero.com)
  • A DNA molecules consists of two strands which are linked to form a series of paired bases: adenine and thymine, cytosine and guanine. (getrevising.co.uk)
  • Edwards syndrome impacts the 18th chromosome, and Patau's syndrome concerns the 13th. (wisegeek.com)
  • defaults in chromosomes cause illnesses like sickle cell anemia and down syndrome. (getrevising.co.uk)
  • Trisomy 13 and trisomy 18 are other numerical abnormalities seen in human populations, albeit at greatly reduced rates compared with Down syndrome. (britannica.com)
  • gNIPT seems to be accurate for screening unborn babies (either singletons or twins), especially for detecting Down syndrome, trisomy 18 and trisomy 13. (cochrane.org)
  • What percentage of DNA do humans and chimpanzees share? (answers.com)
  • One Perspective Although it has commonly been stated in the past that humans and chimpanzees have 98.5% DNA similarity, this figure has recently been found to be incorrect. (answers.com)
  • Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (answers.com)
  • Some specific examples of differences include: 1) Humans have 23 pairs of chromosomes in total while chimpanzees have 24. (answers.com)
  • 2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (answers.com)
  • 3) The Y chromosome in chimpanzees is smaller than that of humans and only 60% of the genes are similar to those of the y chromosome of humans. (answers.com)
  • Chimpanzees have 48 (24 pairs) chromosomes while man has 46 (23 pairs). (thethinkingatheist.com)
  • Chromosome 13 likely contains 300 to 400 genes that provide instructions for making proteins. (medlineplus.gov)
  • These genes produce proteins which in turn carry out a large variety of often complex functions in the human body. (slideshare.net)
  • The human genome contains roughly 23,000 pairs of proteins that code or produce proteins. (slideshare.net)
  • In a chromosome, the DNA is tightly packed together with histone proteins. (reference.com)
  • Chromosomes are packages of DNA, wound around proteins called histones. (creation.com)
  • Each chromosome is specifically anchored through its telomeres to a discrete place on the nuclear envelope by the proteins of the nuclear lamina. (encyclopedia.com)
  • It is well known that the usual banding procedures (C-, G-, R- and T-) reveal the underlying structure and composition of DNA and associated proteins in mitotic chromosomes (Therman and Susman, 1993). (scielo.br)
  • The proteins were called Ten-ms in zebrafish, teneurins in chicken, Ten-m1-4, Odz1-4, Ten-m/Odz1-4, DOC4 in mouse, neurestin in rat, and teneurin or Odz in human. (wikipedia.org)
  • Monosomy of chromosome 13 and trisomy of chromosome 14 and 15, as shown in Ion Reporter Software. (thermofisher.com)
  • Two copies of chromosome 13, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (medlineplus.gov)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • The 400 copies of the human rDNA repeat are distributed among five NORs on the p-arms of acrocentric chromosomes 13, 14, 15, 21, and 22 ( 30 ). (asm.org)
  • The following structural rearrangements were observed in 30 metaphases: an acentric fragment in 2/30 metaphases, a minute in 3/30, a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). (atcc.org)
  • CFAP298 is a gene found on the 21st chromosome at 21q22.1. (wikipedia.org)
  • Every chromosome pair had a least one rearrangement. (atcc.org)
  • Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
  • During this study, buccal swab samples were collected from consented father-son paired samples whose biological relationship was confirmed by autosomal STRs using AmpFlSTR Identifiler kit [8]. (thefreelibrary.com)
  • It is important that pregnant women are given full information on the possible health problems that might arise for babies affected by an additional chromosome. (cochrane.org)
  • Of The long arm of the 18th chromosome is missing. (healthtap.com)
  • VNTR analysis of loci on four other chromosomes excluded non-paternity with greater than 99% confidence. (nih.gov)
  • We also used 17 Y short tandem repeat loci in the non-recombining portion of the Y chromosome. (biomedcentral.com)
  • Analysts focus on 13 or more places in the genome, called loci, where humans are extraordinarily diverse. (sciencemag.org)
  • The chance that two people have the same pairs at all 13 loci is astronomically low. (sciencemag.org)
  • No microsatellite expansion was observed in these glial tumors for any of the chromosome 19 loci examined. (elsevier.com)
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (harvard.edu)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Normally, each cell in the human body carries 23 pairs of chromosomes. (wisegeek.com)
  • A normal human cell contains 23 pairs of chromosomes. (wisegeek.com)
  • A somatic cell is a non-sexual cell (46 chromosomes). (coursehero.com)
  • Every chromosome is different inside a cell. (coursehero.com)
  • Every chromosome in the somatic cell has a matching copy. (coursehero.com)
  • A human cell has 46 total or 23 pairs of chromosomes. (proprofs.com)
  • Every time a cell divides, the nuclear envelope must break down to release the recently duplicated chromosomes. (encyclopedia.com)
  • 2. Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division. (majortests.com)
  • All DNA is stored in each cell in structures we call chromosomes. (prezi.com)
  • Moreover, they have generated new ideas about cell cycle control of nucleolar assembly, the dynamics of the delivery of the RNA processing machinery, the formation of prenucleolar bodies, the role of precursor ribosomal RNAs in stabilizing the nucleolar machinery and the fact that nucleolar assembly is completed by cooperative interactions between chromosome territories. (biologists.org)
  • We report here for the first time that follicle-stimulating hormone (FSH) and luteinizing hormone (LH) receptors are expressed in established human RMS cell lines as well as in primary tumor samples isolated from RMS patients. (cancerindex.org)
  • We also report that human RMS cell lines responded both to pituitary and gonadal sex hormone stimulation by enhanced proliferation, chemotaxis, cell adhesion and phosphorylation of MAPKp42/44 and AKT. (cancerindex.org)
  • We have combined tiling array data with genome wide structural RNA predictions to search for novel noncoding and structural RNA genes that are expressed in the human neuroblastoma cell line SK-N-AS. (biomedcentral.com)
  • This is a hyper-triploid human cell line with a modal chromosome number of 75. (atcc.org)
  • Genes are individual segments of DNA and chromosomes are structures which contain many genes packed together. (reference.com)
  • Instead the functions of these genes depend on the RNA itself, which can be unstructured or adopt functional secondary structures through internal base pairing or pairing to other RNA molecules. (biomedcentral.com)
  • Forty-two studies (65%) enrolled pregnant women with a high chance of having babies with abnormal chromosome number. (cochrane.org)
  • However, when a gNIPT detects an abnormal chromosome number, then a confirmation using invasive tests (like amniocentesis or CVS) is still needed before pregnancy-related decisions can be made. (cochrane.org)
  • In addition, in this review most studies enrolled pregnant women with increased chance of having babies with abnormal chromosome number, so our findings do not directly apply to general populations of pregnant women. (cochrane.org)
  • Here, we identify a novel chromosome associated with the X-chromosome contain-ing two genes that contribute to the observed Hulk phenotype. (ubc.ca)
  • However, they named this gene odd Oz (Odz) after the oddless pair-rule phenotype displayed in Odz mutant embryos, where every odd-numbered body segment was deleted. (wikipedia.org)
  • The human GM-CSF gene is approximately 2.5 kilobase pairs in length with at least three intervening sequences. (sciencemag.org)
  • 2009). They looked at the sequences of Y chromosomes from two men separated by 13 generations. (blogspot.com)
  • Divergence between samples of chimpanzee and human DNA sequences is 5% counting indels. (answers.com)
  • Sequences both distal and proximal to human NORs are comprised of satellite DNA packaged as heterochromatin ( 11 , 53 , 56 , 60 ). (asm.org)
  • The human IGS also contains a subset of sequences found elsewhere in the genome, such as alu repeats and a cdc27 psuedogene ( 17 ). (asm.org)
  • Our results demonstrate that many human noncoding, structured and conserved RNA genes remain to be discovered and that tissue specific tiling array data can be used in combination with computational predictions of sequences encoding structural RNAs to improve the search for such genes. (biomedcentral.com)
  • They typically base pair with sequences in the 3' UTR of mRNAs to inhibit mRNA translation or to promote their degradation. (biomedcentral.com)
  • Although genome-wide investigation and characterization of Nat catalytic subunits (CS) and auxiliary subunits (AS) have been conducted in yeast and humans they remain unexplored in plants. (mdpi.com)
  • Based on phylogenetic analysis, poplar Nat CS were assigned to six subgroups, which corresponded well to the Nat CS types (CS of Nat A-F), being consistent with previous reports in humans and yeast. (mdpi.com)
  • Currently, six types of Nats (NatA-F) complexes conserved from yeast to humans are responsible for these Nα-acetylation events: each of the three major Nats, NatA, NatB and NatC contain a catalytic subunit, and one or two auxiliary subunits, whereas NatD, NatE and NatF are composed of only one catalytic subunit [ 8 , 9 ]. (mdpi.com)
  • The Int6 gene has been highly conserved through evolution, from fission yeast to humans, with the intriguing exception of budding yeasts that have a related protein called Pci8p ( 4 ). (aacrjournals.org)
  • This transcriptionally competent form of Pol I is associated with Rrn3/TIF-1A and is thought to be the target of growth regulation of ribosomal gene expression in organisms ranging from yeast to humans ( 7 , 34 - 36 , 62 . (asm.org)
  • Defendant began offering its BRCA1 and BRCA2 analysis as part of its cancer testing menu on June 13, 2013. (jdsupra.com)
  • Mapping involves (1) dividing the chromosomes into smaller fragments that can be propagated and characterized and (2) ordering (mapping) them to correspond to their respective locations on the chromosomes. (lsu.edu)
  • the human genome project was set up to identify all of the genes and chromosomes in the human body, therefore increasing the likeliness to create drugs and treatment for illnesses such as cancer etc. (getrevising.co.uk)
  • A primary goal of the Human Genome Project is to make a series of descriptive diagrams maps of each human chromosome at increasingly finer resolutions. (lsu.edu)
  • Chemists, physicists, biologists and computer scientists from around the world have now completed the most ambitious biological research project of all time - the Human Genome Project. (hawkhill.com)
  • We asked him just what is the Human Genome Project? (hawkhill.com)
  • In a sense the history of the last 4 billion years provides a broader insight into the importance of the Human Genome Project. (hawkhill.com)
  • The Human Genome Project is deciphering that code. (hawkhill.com)
  • Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. (arctichealth.org)
  • X-linked dominant disorders are also caused by an abnormal gene on the X chromosome, but in these rare conditions, females with an abnormal gene are affected with the disease. (rarediseases.org)