Nucleotides: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Adenine NucleotidesGenotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Guanine NucleotidesHaplotypes: 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.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Purine Nucleotides: Purines attached to a RIBOSE and a phosphate that can polymerize to form DNA and RNA.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Genetic Variation: Genotypic differences observed among individuals in a population.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Guanine Nucleotide Exchange Factors: Protein factors that promote the exchange of GTP for GDP bound to GTP-BINDING PROTEINS.Nucleotides, CyclicSequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Pyrimidine Nucleotides: Pyrimidines with a RIBOSE and phosphate attached that can polymerize to form DNA and RNA.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Adenosine Triphosphate: An adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Genes, Bacterial: The functional hereditary units of BACTERIA.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Kinetics: The rate dynamics in chemical or physical systems.Adenosine Diphosphate: Adenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Open Reading Frames: A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Guanosine Triphosphate: Guanosine 5'-(tetrahydrogen triphosphate). A guanine nucleotide containing three phosphate groups esterified to the sugar moiety.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.RNA, Viral: Ribonucleic acid that makes up the genetic material of viruses.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Guanosine Diphosphate: A guanine nucleotide containing two phosphate groups esterified to the sugar moiety.Thymine Nucleotides: Phosphate esters of THYMIDINE in N-glycosidic linkage with ribose or deoxyribose, as occurs in nucleic acids. (From Dorland, 28th ed, p1154)Cytosine NucleotidesGenome, Viral: The complete genetic complement contained in a DNA or RNA molecule in a virus.DNA, Viral: Deoxyribonucleic acid that makes up the genetic material of viruses.RNA: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.Genes, Viral: The functional hereditary units of VIRUSES.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.Bacterial Proteins: Proteins found in any species of bacterium.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Base Composition: The relative amounts of the PURINES and PYRIMIDINES in a nucleic acid.Models, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Deoxyadenine Nucleotides: Adenine nucleotides which contain deoxyribose as the sugar moiety.Uridine Triphosphate: Uridine 5'-(tetrahydrogen triphosphate). A uracil nucleotide containing three phosphate groups esterified to the sugar moiety.Software: Sequential operating programs and data which instruct the functioning of a digital computer.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Oligonucleotides: Polymers made up of a few (2-20) nucleotides. In molecular genetics, they refer to a short sequence synthesized to match a region where a mutation is known to occur, and then used as a probe (OLIGONUCLEOTIDE PROBES). (Dorland, 28th ed)Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Substrate Specificity: A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.Deoxyguanine Nucleotides: Guanine nucleotides which contain deoxyribose as the sugar moiety.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Adenosine Monophosphate: Adenine nucleotide containing one phosphate group esterified to the sugar moiety in the 2'-, 3'-, or 5'-position.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Protein Biosynthesis: The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.Deoxycytosine Nucleotides: Cytosine nucleotides which contain deoxyribose as the sugar moiety.Inosine NucleotidesComputational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.China: A country spanning from central Asia to the Pacific Ocean.Rho Guanine Nucleotide Exchange Factors: Signaling proteins which function as master molecular switches by activating Rho GTPases through conversion of guanine nucleotides. Rho GTPases in turn control many aspects of cell behavior through the regulation of multiple downstream signal transduction pathways.RNA, Ribosomal: The most abundant form of RNA. Together with proteins, it forms the ribosomes, playing a structural role and also a role in ribosomal binding of mRNA and tRNAs. Individual chains are conventionally designated by their sedimentation coefficients. In eukaryotes, four large chains exist, synthesized in the nucleolus and constituting about 50% of the ribosome. (Dorland, 28th ed)Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Ribonucleotides: Nucleotides in which the purine or pyrimidine base is combined with ribose. (Dorland, 28th ed)2',3'-Cyclic-Nucleotide Phosphodiesterases: Nucleoside-2',3'-cyclic phosphate nucleotidohydrolase. Enzymes that catalyze the hydrolysis of the 2'- or 3'- phosphate bonds of 2',3'-cyclic nucleotides. Also hydrolyzes nucleoside monophosphates. Includes EC 3.1.4.16 and EC 3.1.4.37. EC 3.1.4.-.Hydrolysis: The process of cleaving a chemical compound by the addition of a molecule of water.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Conserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Viral Proteins: Proteins found in any species of virus.INDEL Mutation: A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.Protein Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Oligoribonucleotides: A group of ribonucleotides (up to 12) in which the phosphate residues of each ribonucleotide act as bridges in forming diester linkages between the ribose moieties.Phosphoric Diester Hydrolases: A class of enzymes that catalyze the hydrolysis of one of the two ester bonds in a phosphodiester compound. EC 3.1.4.3' Untranslated Regions: The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.Molecular Weight: The sum of the weight of all the atoms in a molecule.Endonucleases: Enzymes that catalyze the hydrolysis of the internal bonds and thereby the formation of polynucleotides or oligonucleotides from ribo- or deoxyribonucleotide chains. EC 3.1.-.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Nucleotide Transport Proteins: Proteins involved in the transport of NUCLEOTIDES across cellular membranes.Oligonucleotide Probes: Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The 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 probe include the radioisotope labels 32P and 125I and the chemical label biotin.Databases, Nucleic Acid: Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.HapMap Project: A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Oligodeoxyribonucleotides: A group of deoxyribonucleotides (up to 12) in which the phosphate residues of each deoxyribonucleotide act as bridges in forming diester linkages between the deoxyribose moieties.Adenosine Triphosphatases: A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Adenine Nucleotide Translocator 1: A subtype of mitochondrial ADP, ATP translocase found primarily in heart muscle (MYOCARDIUM) and skeletal muscle (MUSCLE, SKELETAL).Nucleotide Mapping: Two-dimensional separation and analysis of nucleotides.Operon: In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Deoxyuracil Nucleotides: Uracil nucleotides which contain deoxyribose as the sugar moiety.Mitochondrial ADP, ATP Translocases: A class of nucleotide translocases found abundantly in mitochondria that function as integral components of the inner mitochondrial membrane. They facilitate the exchange of ADP and ATP between the cytosol and the mitochondria, thereby linking the subcellular compartments of ATP production to those of ATP utilization.Magnesium: A metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Homozygote: An individual in which both alleles at a given locus are identical.Templates, Genetic: Macromolecular molds for the synthesis of complementary macromolecules, as in DNA REPLICATION; GENETIC TRANSCRIPTION of DNA to RNA, and GENETIC TRANSLATION of RNA into POLYPEPTIDES.RNA, Transfer: The small RNA molecules, 73-80 nucleotides long, that function during translation (TRANSLATION, GENETIC) to align AMINO ACIDS at the RIBOSOMES in a sequence determined by the mRNA (RNA, MESSENGER). There are about 30 different transfer RNAs. Each recognizes a specific CODON set on the mRNA through its own ANTICODON and as aminoacyl tRNAs (RNA, TRANSFER, AMINO ACYL), each carries a specific amino acid to the ribosome to add to the elongating peptide chains.Expressed Sequence Tags: Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.Guanosine Monophosphate: A guanine nucleotide containing one phosphate group esterified to the sugar moiety and found widely in nature.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.RNA, Bacterial: Ribonucleic acid in bacteria having regulatory and catalytic roles as well as involvement in protein synthesis.Regulatory Sequences, Nucleic Acid: Nucleic acid sequences involved in regulating the expression of genes.Plant Viruses: Viruses parasitic on plants higher than bacteria.Adenine: A purine base and a fundamental unit of ADENINE NUCLEOTIDES.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.DNA, Recombinant: Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.RNA Splicing: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.Cyclic Nucleotide Phosphodiesterases, Type 1: A CALCIUM and CALMODULIN-dependent cyclic nucleotide phosphodiesterase subfamily. The three members of this family are referred to as type 1A, type 1B, and type 1C and are each product of a distinct gene. In addition, multiple enzyme variants of each subtype can be produced due to multiple alternative mRNA splicing. Although the type 1 enzymes are classified as 3',5'-cyclic-AMP phosphodiesterases (EC 3.1.4.17), some members of this class have additional specificity for CYCLIC GMP.Adenylyl Imidodiphosphate: 5'-Adenylic acid, monoanhydride with imidodiphosphoric acid. An analog of ATP, in which the oxygen atom bridging the beta to the gamma phosphate is replaced by a nitrogen atom. It is a potent competitive inhibitor of soluble and membrane-bound mitochondrial ATPase and also inhibits ATP-dependent reactions of oxidative phosphorylation.5' Untranslated Regions: The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.DNA Replication: The process by which a DNA molecule is duplicated.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.DNA-Directed DNA Polymerase: DNA-dependent DNA polymerases found in bacteria, animal and plant cells. During the replication process, these enzymes catalyze the addition of deoxyribonucleotide residues to the end of a DNA strand in the presence of DNA as template-primer. They also possess exonuclease activity and therefore function in DNA repair.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.GTP-Binding Proteins: Regulatory proteins that act as molecular switches. They control a wide range of biological processes including: receptor signaling, intracellular signal transduction pathways, and protein synthesis. Their activity is regulated by factors that control their ability to bind to and hydrolyze GTP to GDP. EC 3.6.1.-.Cyclic AMP: An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH.Structure-Activity Relationship: The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.GuanineEscherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.ras Guanine Nucleotide Exchange Factors: A family of GUANINE NUCLEOTIDE EXCHANGE FACTORS that are specific for RAS PROTEINS.Receptors, Purinergic P2: A class of cell surface receptors for PURINES that prefer ATP or ADP over ADENOSINE. P2 purinergic receptors are widespread in the periphery and in the central and peripheral nervous system.Ribonuclease T1: An enzyme catalyzing the endonucleolytic cleavage of RNA at the 3'-position of a guanylate residue. EC 3.1.27.3.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Deoxyribonucleotides: A purine or pyrimidine base bonded to a DEOXYRIBOSE containing a bond to a phosphate group.Electrophoresis, Polyacrylamide Gel: Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Ultraviolet Rays: That portion of the electromagnetic spectrum immediately below the visible range and extending into the x-ray frequencies. The longer wavelengths (near-UV or biotic or vital rays) are necessary for the endogenous synthesis of vitamin D and are also called antirachitic rays; the shorter, ionizing wavelengths (far-UV or abiotic or extravital rays) are viricidal, bactericidal, mutagenic, and carcinogenic and are used as disinfectants.Sequence Homology: The degree of similarity between sequences. Studies of AMINO ACID SEQUENCE HOMOLOGY and NUCLEIC ACID SEQUENCE HOMOLOGY provide useful information about the genetic relatedness of genes, gene products, and species.Cyclic GMP: Guanosine cyclic 3',5'-(hydrogen phosphate). A guanine nucleotide containing one phosphate group which is esterified to the sugar moiety in both the 3'- and 5'-positions. It is a cellular regulatory agent and has been described as a second messenger. Its levels increase in response to a variety of hormones, including acetylcholine, insulin, and oxytocin and it has been found to activate specific protein kinases. (From Merck Index, 11th ed)3',5'-Cyclic-AMP Phosphodiesterases: Enzymes that catalyze the hydrolysis of CYCLIC AMP to form adenosine 5'-phosphate. The enzymes are widely distributed in animal tissue and control the level of intracellular cyclic AMP. Many specific enzymes classified under this heading demonstrate additional spcificity for 3',5'-cyclic IMP and CYCLIC GMP.Single-Strand Specific DNA and RNA Endonucleases: Enzymes that catalyze the endonucleolytic cleavage of single-stranded regions of DNA or RNA molecules while leaving the double-stranded regions intact. They are particularly useful in the laboratory for producing "blunt-ended" DNA molecules from DNA with single-stranded ends and for sensitive GENETIC TECHNIQUES such as NUCLEASE PROTECTION ASSAYS that involve the detection of single-stranded DNA and RNA.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Pyrophosphatases: A group of enzymes within the class EC 3.6.1.- that catalyze the hydrolysis of diphosphate bonds, chiefly in nucleoside di- and triphosphates. They may liberate either a mono- or diphosphate. EC 3.6.1.-.NAD: A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)Receptors, Purinergic P2Y2: A subclass of purinergic P2Y receptors that have a preference for ATP and UTP. The activated P2Y2 receptor acts through a G-PROTEIN-coupled PHOSPHATIDYLINOSITOL and intracellular CALCIUM SIGNALING pathway.Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Ribonucleases: Enzymes that catalyze the hydrolysis of ester bonds within RNA. EC 3.1.-.HeLa Cells: The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Consensus Sequence: A theoretical representative nucleotide or amino acid sequence in which each nucleotide or amino acid is the one which occurs most frequently at that site in the different sequences which occur in nature. The phrase also refers to an actual sequence which approximates the theoretical consensus. A known CONSERVED SEQUENCE set is represented by a consensus sequence. Commonly observed supersecondary protein structures (AMINO ACID MOTIFS) are often formed by conserved sequences.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Thionucleotides: Nucleotides in which the base moiety is substituted with one or more sulfur atoms.
OX40L has also been designated CD252 (cluster of differentiation 252). Various single nucleotide polymorphisms (SNPs) of the ... Maizels RM, Yazdanbakhsh M (2003). "Immune regulation by helminth parasites: cellular and molecular mechanisms" (PDF). Nat. Rev ... Huang Q (Apr 2014). "Absence of association between atherosclerotic cerebral infarction and TNFSF4/TNFRSF4 single nucleotide ...
The baiji has the lowest single nucleotide polymorphism (SNP) frequency reported thus far among mammals. This low frequency ... Comparative genopic analyses have uncovered that the baiji have a slow molecular clock and molecular adaptations to their ... The analysis of molecular variance (AMOVA) supported a highlevel of overall genetic structure. The males having a higher ... Yan, J.; Zhou, K.; Gaung, Y. (2005). "Molecular phylogenetics of 'river dolphins' and the baiji mitochondrial genome". ...
Single nucleotide polymorphisms (SNP's) are compared with single binary exposure factors to determine any effects. ... Molecular analysesEdit. Interaction with single genesEdit. The often used method to detect gene-environment interactions is by ... A single nucleotide polymorphism rs1800566 in NAD(P)H Quinone Dehydrogenase 1 (NQO1) alters the risk of asthma and general lung ... The second step uses the SNP's with G-E association and tests for interaction.[15] ...
A later research focus was examining relationships involving single-nucleotide polymorphisms (SNPs) from genes linked to ... The LBC1921 study's main initial aim was to find molecular genetic markers of healthy cognitive ageing. This included the ... Altogether, the HMGN1 gene, 13 SNPs and four candidate genes, including APOE, were statistically significant predictors of ... Molecular Psychiatry. 17 (3): 315-324. doi:10.1038/mp.2010.137. Luciano M.; Gow A. J.; Harris S. E.; Hayward C.; Allerhand M.; ...
... single-nucleotide polymorphisms, SNPs) in candidate genes, and genome wide association studies (GWAS).[8] For example, one ... Inheritance patterns in families,[19] heritability and genetic correlations,[20] molecular markers,[21] and associations have ... The researchers were able to replicate this particular result in four other populations.[22] Further, the SHARe Study (SNP ...
... in molecular biology includes a very wide range of relevant topics: The comparison of sequences in order to ... February 1977). "Nucleotide sequence of bacteriophage phi X174 DNA". Nature. 265 (5596): 687-95. Bibcode:1977Natur.265..687S. ... SNP) in order to get the genetic marker. Revealing the evolution and genetic diversity of sequences and organisms ... In molecular biology and genetics, the same process is called simply "sequencing". In marketing, sequence analysis is often ...
It was the first publicly available SNP database. The project was expanded over the next year by a consortium including the ... It was first released in August 1998, focusing on providing a centralized collection of known human single nucleotide ... Karolinska Institute, the European Bioinformatics Institute and the European Molecular Biology Laboratory. Corporate support ... a database of SNPs and other variations in and around human genes". Nucleic Acids Research. 28 (1): 356-60. doi:10.1093/nar/ ...
Another type of molecular marker, single nucleotide polymorphism (SNP), is likely to have a significant impact on the future of ... Again, triticale has not been well characterised with respect to molecular markers, although an abundance of rye molecular ... Exceptionally little information exists on the use of molecular markers to predict heterosis in triticale. Molecular markers ... A useful molecular marker known as a simple sequence repeat (SSR) is used in breeding with respect to selection. SSRs are ...
... on the molecular level, single nucleotide polymorphisms (SNPs) have also been observed in the lncRNA sequences of HOXA11-AS in ... Studies have shown that the SNP variants in these lncRNA sequences do not increase risk of EOC in patients, but may be the ... Being a lncRNA, it is longer than 200 nucleotides in length, in contrast to regular non-coding RNAs. The HOX genes code for ... This gene is 3,885 nucleotides long and resides at chromosome 7 (7p15.2) and is transcribed from an independent gene promoter. ...
A JDP2 single nucleotide polymorphism (SNP) was detected in Japanese, Korean, and Dutch cohorts, and is associated with an ... The molecular weight of the canonical JDP2 is 18,704 Da. The histone-binding region is located from position 35 to 72 and the ... Molecular Biology. 13 (4): 331-8. doi:10.1038/nsmb1063. PMID 16518400. Pan J, Nakade K, Huang YC, Zhu ZW, Masuzaki S, Hasegawa ... Molecular Cancer. 9: 54. doi:10.1186/1476-4598-9-54. PMC 2841123 . PMID 20214788. Järvinen AK, Autio R, Kilpinen S, Saarela M, ...
A Single-nucleotide polymorphism (SNP) occurs when a single nucleotide in a DNA sequence differs between members of the same ... SNPs work as molecular markers that help locate genes associated with disease and are used for genotype sequencing. Genotyping ... For QTL mapping in maize: use KASP to genotype parents and F1s with 1250 SNPs Identify the polymorphic SNPs Genotype the entire ... population with polymorphic SNPs "What are Single Nucleotide Polymorphisms (SNPs)?". U.S. National Library of Medicine. ...
At least six mutations (single-nucleotide polymorphisms - SNPs) have been associated with lactase expression. They are all ... 2009 Anke Liebert (2014). "Evolutionary and molecular genetics of regulatory alleles responsible for lactase persistence" (PDF ... Journal of Molecular Evolution. 69 (6): 579. doi:10.1007/s00239-009-9301-y. ISSN 0022-2844. Enattah, N. S.; Kozlov, A.; ... Human Molecular Genetics. 14 (24): 3945-3953. doi:10.1093/hmg/ddi418. ISSN 0964-6906. Jensen, Tine G. K.; Liebert, Anke; ...
A single nucleotide polymorphism (SNP) is a difference in a single nucleotide between members of one species that occurs in at ... In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor with a single ... Nucleotide diversity is the average proportion of nucleotides that differ between two individuals. The human nucleotide ... A coding SNP is one that occurs inside a gene. There are 105 Human Reference SNPs that result in premature stop codons in 103 ...
... microsatellites or single-nucleotide polymorphisms (SNPs), while earlier studies also used allozyme data. Species gene ... doi:10.1016/j.jembe.2005.12.002 PDF fulltext Baker, C.S. (2008) A truer measure of the market: the molecular ecology of ... and using these to identify individuals through microsatellite or single-nucleotide polymorphism (SNP) genotyping. This census ... 2008) The tip of the tail: molecular identification of seahorses for sale in apothecary shops and curio stores in California. ...
Single nucleotide polymorphism (SNP) Y-STR (Y-chromosome short tandem repeat) Archaeogenetics Genealogy Genetics Genetic ... fingerprinting DNA sequencing Population genetics Molecular genetics Patrilineality XY sex-determination system Y-chromosomal ... genetics Multiregional hypothesis Single-origin hypothesis Human Genome Project International HapMap Project Molecular ...
... examined the entire genomes worth 560,000 single nucleotide polymorphisms (SNPs), as compared to 420 SNPs in prior work. They ... 2009), in a collaborative effort between the Harvard Medical School and the Centre for Cellular and Molecular Biology (CCMB), ... See Dieneke's blogspot, "560K SNP study reveals dual rigin of Indian populations (Reich et al. 2009)" and Razib Khan (8 August ... 2011), "Herders of Indian and European Cattle Share their Predominant Allele for Lactase Persistence", Molecular Biology and ...
... or a pyrimidine nucleotide to another pyrimidine (C ↔ T). Approximately two out of three single nucleotide polymorphisms (SNPs ... possibly due to the molecular mechanisms that generate them. 5-Methylcytosine is more prone to transition than unmethylated ... In genetics, a transition is a point mutation that changes a purine nucleotide to another purine (A ↔ G) ...
... examined the entire genomes worth 560,000 single-nucleotide polymorphisms (SNPs), as compared to 420 SNPs in prior work. They ... 2009), in a collaborative effort between the Harvard Medical School and the Centre for Cellular and Molecular Biology (CCMB), ...
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single ... nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. ... SNP chips are generally described by the number of SNP positions they assay. Two probes must be used for each SNP position to ... The combination of SNP maps and high density SNP arrays allows SNPs to be used as markers for genetic diseases that have ...
The human single-nucleotide polymorphism (SNP) map has revealed large regional variations in heterozygosity, more so than can ... Molecular Biology and Evolution 31(5): 1295-1301 ^ Arenas, M. and Posada, D. (2007) Recodon: Coalescent simulation of coding ... The international SNP map working group. 2001. A map of human genome variation containing 1.42 million single nucleotide ... and so the regional accumulation of SNPs over time could be quite different. The local density of SNPs along chromosomes ...
SAT has been widely applied to genomic and proteomic research, such as single nucleotide polymorphism (SNP) genotyping, genetic ... This allows SAT to analyze variety of molecular targets during a single reaction. The common nucleic acid detection method ... Suspension array technology (or SAT) is a high throughput, large-scale, and multiplexed screening platform used in molecular ...
... such as single nucleotide polymorphism (SNP) analysis), as well as measurement of molecular activities. The latter comprise a ... Functional genomics is a field of molecular biology that attempts to make use of the vast wealth of data given by genomic and ... Important results include evidence from genomic tiling arrays that most nucleotides are transcribed as coding transcripts, ...
SNPs SNPs (single nucleotide polymorphism), are used to detect variations in single nucleotides. The technique is very similar ... Molecular-weight size markers can be broken up into two categories: molecular weight markers vs. molecular ladder markers. ... The RFLP molecular marker is specific to a single fragment. Along with alleic RFLP markers, a molecular-weight size marker, in ... Molecular-weight size markers can also be biochemically altered. The conjugation with biotin is the most common. Molecular- ...
The Single-nucleotide polymorphism (SNP) was also examined. Y-chromosome SNPs are rare and can be used to separate populations ... Official sites Sorenson Molecular Genealogy Foundation GeneTree News articles Sorenson Molecular Genealogy Foundation Offers ... The Sorenson Molecular Genealogy Foundation (SMGF) was an independent DNA and genealogical research institution with the goal ... "Sorenson Molecular Genealogy Foundation ISOGG Wiki". "Simple Fool's Guide to Population Genomics, Stanford University - Palumbi ...
Cann, Stoneking & Wilson (1987) did not rely on a predicted TCHLCA to estimate single-nucleotide polymorphism (SNP) rates. ... Molecular clocking of mitochondrial DNA has been criticized because of its inconsistent molecular clock. A retrospective ... The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of ... A major goal of scientists in the field is to develop an accurate hominid mitochondrial molecular clock which could then be ...
大多數對於人類遺傳變異的研究集中在單一核苷酸多型性(single nucleotide polymorphisms;SNPs),也就是DNA中的個別鹼基變換。科學家分析估計,在人類的真染色質(富含基因的染色質)中,平均每100到1000個鹼基會出現1個 ... Watson, JD, Baker TA, Bell SP, Gann A, Levine M, Losick R. (2004). "Ch9-10", Molecular Biology of the Gene, 5th ed., Peason ... a tiling array with 5-nucleotide
Molecular karyotyping, using SNP array, was performed on 5000 clinical samples.. Results. Clinically significant LogR neutral ... Several recent studies have demonstrated the use of single nucleotide polymorphism (SNP) arrays for the investigation of ... Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by ... In addition to LogR copy number data, these arrays provide SNP genotyping data for gene level autozygosity mapping, ...
SNP) diversity of cassava genotypes in relation to cassava brown streak disease in Mozambique - Elias Oyesigye, Anabela ... Ferguson, ME, Rabbi, IY, Kim, DJ, Gedil, M, Lopez-Lavalle, LAB and Okogbenin, E (2012b) Molecular markers and their application ... Thirty-five single nucleotide polymorphism (SNP) markers with a high minor allele frequency in East African landraces were used ... Molecular Ecology Notes 6: 288-295.. Peakall, R and Smouse, PE (2012) Genalex 6.5: genetic analysis in excel. Population ...
... have proven highly effective on defining the molecular basis of these disorders by identifying the underlying variants in the ... Nucleotide variants screening with Sanger sequencing and ABCA4 gene SNP microarray. The affected boys DNA was firstly screened ... Molecular analysis. DNA samples collection. Blood samples from the affected children as well as their healthy parents were ... SNP microarray analysis (APEX-array primer extension-based test) of the ABCA4 gene was performed to search for known nucleotide ...
Molecular Biology Databases Single nucleotide polymorphisms (SNPs) General Pathology / Molecular biology (95 links) * ... Home> Molecular Biology Menu: Pathology and Molecular Biology Cancer Genetics Web General Pathology / Molecular biology Units ... Single nucleotide polymorphisms (SNPs). Single nucleotide polymorphisms, often called "snips," are common variations that occur ... Users can search for and submitt SNPs. *European Molecular Biology Network - Belgian node *European Molecular Biology Network ...
We evaluated SNPs in genes that have previously shown correlations in other kinds of solid organ transplantation, namely ABCB1 ... Other tendencies, confirming previously expected results, were found associated with the rest of studied SNPs. An interesting ... Relevant SNPs related to Tac and MPA in other solid organ transplants also seem to be related to the efficacy and safety of ... SNPs) on Immunosuppressive Therapy in Lung Transplantation. International Journal of Molecular Sciences. 2015; 16(9):20168- ...
Only one true SNP was analyzed in each contig. One hundred and thirteen SNPs out of the 140 analyzed were feasible (genotyped ... Two transcriptome 454-pyrosequencing runs were used in order to detect Single Nucleotide Polymorphisms (SNPs) in genes related ... Most SNP-containing genes were related to immune response and gonad differentiation processes, and could be candidates for ... A large number of SNPs (49) were located in the coding region, 33 representing synonymous and 16 non-synonymous changes. ...
Molecular Sequence Annotation* * Polymorphism, Single Nucleotide* * Software* Grant support * P30 ES06639/ES/NIEHS NIH HHS/ ... 38 SNPs), stop codon losses (8 SNPs), and start codon gains (297 SNPs) in the 5UTR. We found, as expected, that the SNP ... We show that ~15,842 SNPs are synonymous and ~4,467 SNPs are non-synonymous (N/S ~0.28). The remaining SNPs are in other ... A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of ...
Detection of SSR Molecular Markers and Single Nucleotide Polymorphisms (SNPs). Contigs larger than 1 kb were subjected to an ... Detection of SSRs and SNPs. It was possible to identify 14,283 SNPs in the transcribed regions. More SNPs were found in the ... The detection of single nucleotide polymorphism (SNP) variants was performed with CLC Genomics Workbench 6.5.8 software, based ... On average, 10,000 SNPs were common between the regions (10,416 between equatorial samples and the total assembly and 9,690 ...
Six polymorphisms, consisting of 2 SNPs in intron 1 (c.182T , G, c.183G , T) and 4 SNPs in exon 2 (c.339C , G, c.345C , T, c. ... Additionally, the SNP c.447G , A was significantly associated with BWT, BWH, overall length (OL), trunk width (TW), and head ... The c.531C , T SNP showed a close association between the TT genotype and decreased growth. Our results demonstrate that ... leptin; single nucleotide polymorphisms (SNPs); molecular markers; orange-spotted grouper (Epinephelus coioides); growth traits ...
The T genotype of the MGMT C , T (rs16906252) enhancer single-nucleotide polymorphism (SNP) is associated with promoter ... Challenges and opportunities in international molecular cancer prevention research: An ASPO Molecular Epidemiology and the ... Ogino S, Goel A. Molecular classification and correlates in colorectal cancer. J Mol Diagn. 2008;10(1):13-27.PubMedCentral ... Molecular pathological epidemiology is essential in studying neoplastic and non-neoplastic diseases in the era of precision ...
The aim of this study was to determine single nucleotide polymorphisms in hOGG1 (Ser326Cys (rs13181)) and XRCC1(Arg194Trp ( ... Molecular mechanisms of ultraviolet radiation-induced DNA damage and repair. J Nucleic Acids. 2010;2010:592980.CrossRefPubMed ... Single nucleotide polymorphisms (SNPs) of hOGG1 and XRCC1 DNA repair genes and the risk of ovarian cancer in Polish women. ... Nucleotide excision repair polymorphisms and survival outcome for patients with metastatic breast cancer. J Cancer Res Clin ...
Association for Molecular Pathology *Single nucleotide polymorphism (SNP) databases: *NCBI /NHGRI SNP database *Coriell ... Molecular biology *National Center for Biotechnology-Genebank *European Molecular Biology Laboratory(EMBL) *Baylor College of ... Molecular diagnostics-Walter W. Noll, MD, Director- Southern blot and PCR based protocols for the detection of B and T cell ... molecular diagnostic studies, and some nice images of hematopoietic maturation ...
Molecular Characterization of a Cacao Germplasm Collection Maintained in Yunnan, China Using Single Nucleotide Polymorphism ( ... SNP) Markers Authors (first, second and last of 5). *Boyi Wang. *Lambert A. Motilal ... cellular and molecular biology, genetics, genomics, genomic ecology, and molecular breeding. It presents articles of original ... Topics include physiology, evolution, development, cellular and molecular biology, genetics, genomics, genomic ecology, and ...
... genomics with single nucleotide polymorphisms (SNPs) and epigenomics, transcriptomics, proteomics, metabolomics, advanced ... will provide insight on a much higher level than today in a field we may name molecular nutrition research. To take advantage ... granted that the revolutions in molecular and systems technologies are applied to nutritional questions. Descriptive and ... Single nucleotide polymorphisms (SNPs) are defined as variations in DNA sequence where one of the four nucleotides is ...
ICT Aspects of Next-Generation-Sequencing Applied to Molecular Diagnostics: 10.4018/978-1-4666-3990-4.ch047: Next-Generation- ... Single Nucleotide Polymorphism (SNP): Variant that is more frequent than 5% in the population. ... Single Nucleotide Polymorphism (SNP): Variant that is more frequent than 5% in the population. ... Classical Molecular Diagnostics. For the last 10 years, molecular diagnostics used to be performed as follows: A medical doctor ...
Chapter 6 Single nucleotide polymorphism (SNP). In: Aquaculture Genome Technologies (edited by Liu ZJ.), pp. 59-72, Blackwell ... SNP discovery through EST data mining. pp. 91-108. In: Next Generation Sequencing, SNPs, and Whole Genome Selection, Wiley and ... SNP quality assessment. pp. 109-122. In: Next Generation Sequencing, SNPs, and Whole Genome Selection, Wiley and Blackwell ... Generation of genome-scale gene-associated SNPs in catfish for the construction of a high-density SNP array. BMC Genomics 12:53 ...
... genes that contain single nucleotide polymorphisms (SNPs) (n = 748). In addition, the ANKAwt genes (n = 10) are shown that were ... Molecular & Cellular Proteomics February 1, 2013, First published on November 28, 2012, 12 (2) 426-448; DOI: 10.1074/mcp. ... SNPs were detected in 748 genes, and in 591 of these genes, one or more SNPs were non-synonymous (supplemental Table S5). ... Molecular & Cellular Proteomics February 1, 2013, First published on November 28, 2012, 12 (2) 426-448; DOI: 10.1074/mcp. ...
Single nucleotide polymorphisms and mutations in the GRM7 gene have been associated with idiopathic autism and other NDDs in ... Single nucleotide polymorphisms and mutations in the GRM7 gene have been associated with idiopathic autism and other ... SNP, single nucleotide polymorphism; VFD, Venus flytrap domain; VU6005649, 3-(2,3-difluoro-4-methoxy-phenyl)-2,5-dimethyl-7-( ... More studies are warranted to understand the molecular interaction between MeCP2 and mGlu7 expression. This information will ...
... revealing a single nucleotide polymorphism (SNP) annotated in the dbSNP database (46) maintained by the National Center for ... Kitts, A., and Sherry, S. (2003) The single nucleotide polymorphism database (dbSNP) of nucleotide sequence variation, in The ... SNP, single nucleotide polymorphism; LIME1, Lck-interacting transmembrane adaptor 1 protein. ... Molecular & Cellular Proteomics April 1, 2006, First published on December 12, 2005, 5 (4) 652-670; DOI: 10.1074/mcp.M500319- ...
Molecular Sequence Data * Polymorphism, Single Nucleotide* * Proteins / genetics * Risk * Sequence Analysis, DNA / methods ... One SNP marker (rs1242541) within a CNV region neighboring the Sel-1 suppressor of lin-12-like protein (SEL1L) was ... Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in ... To identify multi-allelic CNV markers, we visually inspected all genotype clusters of 317,503 SNP markers covering the whole ...
The molecular model is based on the structure of LTα as described (8). SNP, single nucleotide polymorphim. ... A molecular model of LIGHT (8) indicated the E214K residue is surface exposed and located in the G β-strand that lies adjacent ... Location of SNP in the LIGHT coding region. A, Sequence of human LIGHT showing the positions of the two nonsynonymous ... Laboratory for Molecular Immunology and Inflammation, Department of Rheumatology, University Hospital Ghent, Ghent, Belgium ...
... and single-nucleotide polymorphism (SNP; Dillon et al. 2010). ... low molecular weight) to top (high molecular weight). ... of informative molecular markers (Plomion et al. 2007). Among the molecular techniques implemented for P. radiata are ... Establishment and optimization of ISSR and SAMPL molecular markers as a tool for breeding programs of Pinus radiata ... Plant Molecular Biology Reporter 19: 209-215. [ Links ]. Chagné D, P Chaumeil, A Ramboer, C Collada, A Guevara, M Cervera, G ...
Research has identified there is a multiplicity of plausible molecular effects caused by human genetic differences that may ... Kastelic V and Drobnič K (2012) A single‐nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with ... Journal of Molecular Biology 425(21): 3911. Anno S, Abe T and Yamamoto T (2008) Interactions between SNP alleles at multiple ... Keywords: human DNA variations; single nucleotide polymorphism (SNP); disease‐causing mutations; pathogenic mutations; ...
Among many different types of variants, the most common and simplest is the single nucleotide polymorphism (SNP) in which a ... Before performing SNP analysis, we first studied single molecule behaviors of oligonucleotides of different lengths and ... Overall, this thesis validates adaptation of the nanopore detection system for SNP analysis using the polymer tagged ddNTPs. ... This dissertation thus chronicles our endeavors in developing a nanopore-based SNP assay using polymer tagged ...
  • We evaluated SNPs in genes that have previously shown correlations in other kinds of solid organ transplantation, namely ABCB1 and CYP3A5 genes with tacrolimus (Tac) and ABCC2 , UGT1A9 and SLCO1B1 genes with mycophenolic acid (MPA), during the first six months after lung transplantation (51 patients). (mdpi.com)
  • Most SNP-containing genes were related to immune response and gonad differentiation processes, and could be candidates for functional changes leading to phenotypic changes. (mdpi.com)
  • Molecular characterization, phylogenetic analysis and expression profiling of myoglobin and cytoglobin genes in response to heat stress in channel catfish Ictalurus punctatus. (auburn.edu)
  • The two SNPs rs2470893 and rs2472297 ( P -values=1.6 × 10 −11 and 2.7 × 10 −11 ), which were also in strong linkage disequilibrium ( r 2 =0.7) with each other, lie in the 23-kb long commonly shared 5′ flanking region between CYP1A1 and CYP1A2 genes. (nature.com)
  • The detailed comparison of the in silico alignment with experimental hybridization data lead to the identification of various factors influencing sensitivity and specificity in SNP detection and to the identification of strain specific features such as a large deletion within the PA4684 and PA4685 genes in the Washington Genome Center PAO1. (springer.com)
  • Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. (hindawi.com)
  • Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans. (hindawi.com)
  • SNP-based genetic linkage analysis can be used to map disease loci, and determine disease susceptibility genes in individuals. (wikipedia.org)
  • Based on the molecular beacon technology, we developed a series of Mx4000 molecular beacon allelic discrimination kits , ff for the detection of single or multiple nucleotide changes in human genes. (bio-medicine.org)
  • As Lopes-Cendes explained, in order to be sure that the two groups of patients belonged to the same population from a genetic standpoint and hence were genuinely comparable, the researchers also genotyped 90 other SNPs in different genes located on the same chromosomes as in the previous analysis. (eurekalert.org)
  • Researchers have identified the molecular basis of many red cell blood group antigens, and an actively maintained database currently lists over 1,600 alleles of 44 genes (1). (aacc.org)
  • Here we report on the identification of differentially expressed genes (DEGs) between contrasting sorghum genotypes, HongkeZi (cold tolerant) and BTx623 (cold sensitive) under cool and control temperatures using RNAseq approach to elucidate the molecular basis of sorghum response to cold stress. (biomedcentral.com)
  • SNP rs2290221 is located intronic of the genes secreted frizzled-related protein 4 (SFRP4) and ependymin related protein 1 (zebrafish) (EPDR1). (uni-koeln.de)
  • In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. (wikipedia.org)
  • The basic principles of SNP array are the same as the DNA microarray. (wikipedia.org)
  • The most prominent feature of these high‐throughput genotyping platforms is the ability to interrogate several hundred thousands to one million SNPs simultaneously in a microarray. (els.net)
  • High‐throughput SNPs genotyping technologies had enabled researchers to interrogate several hundred thousands to one million SNPs simultaneously in a microarray. (els.net)
  • Our genetics laboratories consist of biochemical genetics, molecular genetics, cytogenetics and a research and development laboratory dedicated to bringing the most current and specialized research tests into the clinical arena using tandem mass spectrometry and microarray technology. (seattlechildrens.org)
  • For example, SNP arrays can be used to study loss of heterozygosity (LOH). (wikipedia.org)
  • The development of molecular techniques for genetic analysis has led to a great augmentation in our knowledge of crop genetics and our understanding of the structure and behavior of various crop genomes. (science20.com)
  • In addition to LogR 'copy number' data, these arrays provide SNP genotyping data for gene level autozygosity mapping, estimating low levels of mosaicism, assessing long continuous stretches of homozygosity (LCSH), detection of uniparental disomy, and 'autozygous' regions. (ovid.com)
  • These results demonstrate the utility of SNP genotyping data for detection of clinically significant abnormalities, including chimerism/mosaicism and recessive Mendelian disorders associated with autozygosity. (ovid.com)
  • Although there have been considerable improvements in technologies that can reveal a single base difference in a DNA strand, simple and affordable methods that have high detection sensitivity and require small sample volume are expected to facilitate widespread adoption of routine SNP analysis in clinical settings. (columbia.edu)
  • Overall, this thesis validates adaptation of the nanopore detection system for SNP analysis using the polymer tagged ddNTPs. (columbia.edu)
  • Because of their unique hairpin conformation, molecular beacon probes can recognize single base differences, making them ideal for mutation detection and allelic discrimination. (bio-medicine.org)
  • 2008b) Systematic assessment of copy number variant detection via genome‐wide SNP genotyping. (els.net)
  • 2009. Development of a molecular diagnostic assay for the detection of the butternut canker pathogen Sirococcus clavigignenti-juglandeacearum. (uoguelph.ca)
  • This dissertation thus chronicles our endeavors in developing a nanopore-based SNP assay using polymer tagged dideoxynucleotides (ddNTPs). (columbia.edu)
  • SNP chips are generally described by the number of SNP positions they assay. (wikipedia.org)
  • Multiple SNPs can be included in a single assay, allowing efficient screening for multiple antigens. (aacc.org)
  • To gain further insights on the molecular mechanism of cold tolerance in sorghum we performed transcriptome profiling between known cold sensitive and tolerant sorghum lines using RNA sequencing technology under control and cold stress treatments. (biomedcentral.com)
  • Molecular karyotyping, using SNP array, was performed on 5000 clinical samples. (ovid.com)
  • Association for Molecular Pathology (USA) A national organization, established to promote clinical practice, basic research, and education in molecular pathology. (cancerindex.org)
  • An active research program in the ARUP Institute for Clinical and Experimental Pathology® is committed to developing molecular technologies that will ensure continued quality of clinical testing in the rapidly progressing field of molecular pathology. (aruplab.com)
  • To study the clinical, histological, in vivo confocal microscopic, and molecular profile in a family with gelatinous drop-like corneal dystrophy (GDLD) from north India. (molvis.org)
  • The most important clinical applications of SNP arrays are for determining disease susceptibility and for measuring the efficacy of drug therapies designed specifically for individuals. (wikipedia.org)
  • The demand is growing in the clinical research field for high-throughput screening methodologies that are sensitive enough to distinguish nucleic acid sequences differing by a few or one nucleotide. (bio-medicine.org)
  • The study demonstrates that RNA-Seq at low sequence coverage of divergent populations is a fast and effective means of identifying SNPs, with allelic imbalances between phenotypes. (usda.gov)
  • High density SNP arrays help scientists identify patterns of allelic imbalance. (wikipedia.org)
  • SNPs at intron/exon boundaries may influence the conserved "GU-AG" motifs and modify the resulting polypeptide. (genetics.org)
  • SNP rs2290221 befindet sich im Intron der beiden Gene secreted frizzled-related protein 4 (SFRP4) und ependymin related protein 1 (zebrafish) (EPDR1). (uni-koeln.de)
  • The growing appreciation among clinicians and demand for SNP genotyping data poses significant challenges for the interpretation of LCSH, especially where there is no detailed phenotypic description to direct laboratory analysis. (ovid.com)
  • The ARUP Molecular Oncology Laboratory offers a broad menu of testing and consultative services in oncology. (aruplab.com)
  • Stella Grando, a professor at the Research and Innovation Center of the Applied Molecular Laboratory at the Fondazione Mach of the Istituto San Michele all'Adige, one of Italy's greatest (and nicest) grapevine scientists, told me that she feels exactly the same way: "A variety-oriented enology, aiming to obtain a distinct wine from a specific cultivar, requires complete knowledge of the cultivar itself. (ucpress.edu)
  • Our Molecular Genetics Laboratory offers DNA analysis for diagnosis and carrier testing for metabolic and other genetic disorders. (seattlechildrens.org)
  • However, in these studies, SNPs are genotyped by high-throughput methods in genome scale, which are expensive and require sophisticated equipment and analysis methods. (deepdyve.com)
  • The paradigm shift in genetic approach to GWAS has been attributed to several important developments, notably the rapid advancement in high‐throughput SNPs genotyping technologies. (els.net)
  • Finally, reporting of unexpected or hidden consanguinity revealed by SNP array analysis raises potential ethical and legal issues. (ovid.com)
  • We have developed an electronic data analysis tool for gene-mapping SNP arrays, a software tool that we call Copy Number Variation Finder (CNVF). (bmj.com)
  • Using CNVF, we analysed 104 unselected patients with mental retardation of unknown origin with a genechip mapping 100K SNP array and established an optimised set of analysis parameters. (bmj.com)
  • To generate a steady and stable blockade event for accurate SNP analysis, two different means of positioning a tag molecule in the αHL nanopore after the SBE reaction have been explored: covalent conjugation of DNA primer to the pore and immobilization of biotinylated primer within the pore by streptavidin. (columbia.edu)
  • Before performing SNP analysis, we first studied single molecule behaviors of oligonucleotides of different lengths and structures in the αHL pore and their ensuing current signatures in the system (Chapter 4). (columbia.edu)
  • Significant evidence of association was also detected at rs382140 ( P -value=3.9 × 10 −09 ) near NRCAM -a gene implicated in vulnerability to addiction, and at another independent hit rs6495122 ( P -value=7.1 × 10 −09 )-an SNP associated with blood pressure-in the 15q24 region near the gene ULK3 , in the meta-analysis of discovery and replication cohorts. (nature.com)
  • Para lograr incrementar la disponibilidad de marcadores moleculares en P. radiata , se examinaron dos marcadores ISSR ( inter simple sequence repeat ) y 12 combinaciones de partidores SAMPL ( selective amplification of microsatellite polymorphic loci ), usando una familia F1 de 86 hermanos completos de primera generación. (scielo.cl)
  • Compelling evidence indicates that pathogenic processes encompass molecular alterations within cells and the microenvironment, influenced by various exogenous and endogenous exposures, and that interpersonal heterogeneity in molecular pathology and pathophysiology exists among patients with any given disease. (springer.com)
  • The SNPs also associated with DNA methylation sites that related to reduced CD36 mRNA and higher serum lipids, but mixed-model analyses indicated that the SNPs and methylation independently influence CD36 mRNA. (diva-portal.org)
  • The findings support contributions of CD36 SNPs that reduce adipose and heart CD36 RNA expression to inter-individual variability of postprandial lipid metabolism and document changes in CD36 DNA methylation that influence both CD36 expression and lipids. (diva-portal.org)
  • Methods in Molecular Biology 1021: 37-61. (els.net)
  • The molecular methods described in the present study will help to understand the disease dynamics and future brucellosis control in Pakistan. (thefreelibrary.com)
  • Within the Institute for Biomedical Sciences, the doctoral program in Biochemistry and Systems Biology is designed to train and develop independent, first-rate scientists who will be competitive for careers in research and education in areas where the principles and methods of biochemistry, molecular biology and genetics are applied to the study of biomedical problems. (gwu.edu)
  • The MPE paradigm and approach can be applied to not only neoplasms but also various non-neoplastic diseases where there exists indisputable ubiquitous heterogeneity of pathogenesis and molecular pathology. (springer.com)
  • Research has identified there is a multiplicity of plausible molecular effects caused by human genetic differences that may lead to human diseases. (els.net)
  • Researchers have found SNPs that may help predict an individual's response to certain drugs, susceptibility to toxins, and risk of developing particular diseases. (plymouth.edu)
  • For example, genome-wide association studies have identified SNPs associated with diseases such as rheumatoid arthritis, prostate cancer, and type 2 diabetes. (wikipedia.org)
  • A subset of 16 SNPs differentiated all epidemic clones and outbreak strains. (asm.org)
  • Genome coverage is an estimate of the proportion of SNPs (using the International HapMap data as reference) that can be captured by the SNPs which directly genotyped in an array with a preset r 2 threshold. (els.net)
  • We also found that start-gain or stop-lost SNPs in Drosophila melanogaster often result in additions of N-terminal or C-terminal amino acids that are conserved in other Drosophila species. (nih.gov)
  • The result is: my gene different just only one nucleotide, so that changed 1 amino acid ( from Leucine to Proline). (protocol-online.org)
  • Clicking a Chimera link displays the corresponding structure with nonsynonymous SNP residues colored and labeled with the dbSNP identifier. (ucsf.edu)