Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.Sapovirus: A genus of the family CALICIVIRIDAE associated with worldwide sporadic outbreaks of GASTROENTERITIS in humans. The first recorded outbreak was in human infants in Sapporo, Japan in 1977. The genus is comprised of a single species, Sapporo virus, containing multiple strains.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.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.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).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.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Genetic Variation: Genotypic differences observed among individuals in a 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.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Mutation Rate: The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.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.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.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.Homozygote: An individual in which both alleles at a given locus are identical.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.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.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.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.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.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.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.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).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.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.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.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.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).Cell Line: Established cell cultures that have the potential to propagate indefinitely.Models, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.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.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: 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).Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.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).Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Bacterial Proteins: Proteins found in any species of bacterium.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.Syndrome: A characteristic symptom complex.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.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.Heterozygote Detection: Identification of genetic carriers for a given trait.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.Mutant Proteins: Proteins produced from GENES that have acquired MUTATIONS.Hepacivirus: A genus of FLAVIVIRIDAE causing parenterally-transmitted HEPATITIS C which is associated with transfusions and drug abuse. Hepatitis C virus is the type species.China: A country spanning from central Asia to the Pacific Ocean.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Consanguinity: The magnitude of INBREEDING in humans.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.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.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.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.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.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Drug Resistance, Viral: The ability of viruses to resist or to become tolerant to chemotherapeutic agents or antiviral agents. This resistance is acquired through gene mutation.RNA, Viral: Ribonucleic acid that makes up the genetic material of viruses.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.Recombinant Proteins: Proteins prepared by recombinant DNA technology.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.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.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.Genes, Bacterial: The functional hereditary units of BACTERIA.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.DNA, Neoplasm: DNA present in neoplastic tissue.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Proto-Oncogene Proteins B-raf: A raf kinase subclass found at high levels in neuronal tissue. The B-raf Kinases are MAP kinase kinase kinases that have specificity for MAP KINASE KINASE 1 and MAP KINASE KINASE 2.Genes, BRCA1: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.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.DNA, Viral: Deoxyribonucleic acid that makes up the genetic material of viruses.Methylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 126.96.36.199.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)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.Molecular Epidemiology: The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples.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).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.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Hepatitis B virus: The type species of the genus ORTHOHEPADNAVIRUS which causes human HEPATITIS B and is also apparently a causal agent in human HEPATOCELLULAR CARCINOMA. The Dane particle is an intact hepatitis virion, named after its discoverer. Non-infectious spherical and tubular particles are also seen in the serum.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.Glutathione Transferase: A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.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.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.Kinetics: The rate dynamics in chemical or physical systems.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.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Antiviral Agents: Agents used in the prophylaxis or therapy of VIRUS DISEASES. Some of the ways they may act include preventing viral replication by inhibiting viral DNA polymerase; binding to specific cell-surface receptors and inhibiting viral penetration or uncoating; inhibiting viral protein synthesis; or blocking late stages of virus assembly.Temperature: The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.Eye ProteinsMutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.Genome, Viral: The complete genetic complement contained in a DNA or RNA molecule in a virus.COS Cells: CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)Genetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.Proto-Oncogene Proteins: Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.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.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.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.Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.JapanTime Factors: Elements of limited time intervals, contributing to particular results or situations.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.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Tumor Suppressor Protein p53: Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.Genes, BRCA2: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)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.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.RNA Splice Sites: Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Genes, Fungal: The functional hereditary units of FUNGI.RNA Splicing: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.Ethylnitrosourea: A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.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.Abnormalities, MultipleDrosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.Recombinant Fusion Proteins: Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.Mice, Inbred C57BLMice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Hepatitis C: INFLAMMATION of the LIVER in humans caused by HEPATITIS C VIRUS, a single-stranded RNA virus. Its incubation period is 30-90 days. Hepatitis C is transmitted primarily by contaminated blood parenterally, and is often associated with transfusion and intravenous drug abuse. However, in a significant number of cases, the source of hepatitis C infection is unknown.BRCA2 Protein: A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)Virus Replication: The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.Repressor Proteins: Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.Protein Structure, Secondary: The level of protein structure in which regular hydrogen-bond interactions within contiguous stretches of polypeptide chain give rise to alpha helices, beta strands (which align to form beta sheets) or other types of coils. This is the first folding level of protein conformation.Fungal Proteins: Proteins found in any species of fungus.HIV-1: The type species of LENTIVIRUS and the etiologic agent of AIDS. It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.Escherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Hepatitis C, Chronic: INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.ras Proteins: Small, monomeric GTP-binding proteins encoded by ras genes (GENES, RAS). The protooncogene-derived protein, PROTO-ONCOGENE PROTEIN P21(RAS), plays a role in normal cellular growth, differentiation and development. The oncogene-derived protein (ONCOGENE PROTEIN P21(RAS)) can play a role in aberrant cellular regulation during neoplastic cell transformation (CELL TRANSFORMATION, NEOPLASTIC). This enzyme was formerly listed as EC 188.8.131.52.Drug Resistance: Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.Cercopithecus aethiops: A species of CERCOPITHECUS containing three subspecies: C. tantalus, C. pygerythrus, and C. sabeus. They are found in the forests and savannah of Africa. The African green monkey (C. pygerythrus) is the natural host of SIMIAN IMMUNODEFICIENCY VIRUS and is used in AIDS research.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Infant, Newborn: An infant during the first month after birth.Drug Resistance, Microbial: The ability of microorganisms, especially bacteria, to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).Breast Neoplasms: Tumors or cancer of the human BREAST.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Family: A social group consisting of parents or parent substitutes and children.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Valine: A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Ribavirin: A nucleoside antimetabolite antiviral agent that blocks nucleic acid synthesis and is used against both RNA and DNA viruses.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Trans-Activators: Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Lung Neoplasms: Tumors or cancer of the LUNG.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Codon, Terminator: Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.Drug Resistance, Bacterial: The ability of bacteria to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).Amino Acid Motifs: Commonly observed structural components of proteins formed by simple combinations of adjacent secondary structures. A commonly observed structure may be composed of a CONSERVED SEQUENCE which can be represented by a CONSENSUS SEQUENCE.ItalyArginine: An essential amino acid that is physiologically active in the L-form.Viral Proteins: Proteins found in any species of virus.
Mutation Analysis 4. Gene Deletion Analysis 5. Template Quantitation 6. Linkage Analysis 7. RNA Detection 8. Forensic Studies 9 ... Some of the applications of multiplex PCR include: 1. Pathogen Identification 2. High Throughput SNP Genotyping 3. ... In 2008, multiplex-PCR was used for analysis of microsatellites and SNPs. Multiplex-PCR consists of multiple primer sets within ... Abbs, S; Bobrow, M (1992). "Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the ...
Köchling J, Karbasiyan M, Reis A (2001). "Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome". Eur. J ... "Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases". Eur J Med Genet. 56 (12): 648-54. doi: ... "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene". Am. J. Hum. Genet. 66 (5): 1504-15. doi: ... Kim IS, Oh SY, Choi SJ, Kim JH, Park KH, Park HK, Kim JW, Ki CS (2007). "Clinical and genetic analysis of HLXB9 gene in Korean ...
Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P (2007). "Mutation analysis and genotype/phenotype relationships of Gaucher ... permanent dead link] Horowitz M, Zimran A (1994). "Mutations causing Gaucher disease". Human Mutation. 3 (1): 1-11. doi:10.1002 ... Mutations in the glucocerebrosidase gene are also associated with Parkinson's disease. Alglucerase (Ceredase) was a version of ... Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation ...
Chen S, Wang QL, Xu S, Liu I, Li LY, Wang Y, Zack DJ (Apr 2002). "Functional analysis of cone-rod homeobox (CRX) mutations ... "Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame". ... Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal ... Nakamura M, Ito S, Miyake Y (Sep 2002). "Novel de novo mutation in CRX gene in a Japanese patient with leber congenital ...
2007). "Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations". Invest. Ophthalmol. ... 2005). "Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy". Am. J. ... 2006). "Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy". Mol. Vis. 11: 738-43. ... 2005). "CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy". Ophthalmic Res. 37 (5): 262-9. doi: ...
Mutation Research. 2008 Dec 1;647(1-2):30-8. Epub 2008 Aug 20. Review. Illumina: DNA Methylation Analysis: http://www.illumina. ... Whole-genome genotyping with the single-base extension assay. Nature methods, Vol. 3, No. 1, Jan, 31 - 33 (2006). BeadStudio ... Analysis of methylation data The scanned microarray images of methylation data are further analyzed by the system, which ... The data can then be compiled into several types of figures for visualization and analysis. Scatter plots are used to correlate ...
2001). "Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia". Eur. J. Hum. ... The detailed sequence analysis of Doublecortin and Doublecortin-like proteins allowed the identification of a tandem repeat of ... 2001). "Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root ... The mutation was discovered by Joseph Gleeson and Christopher A. Walsh in Boston. Lissencephaly GRCh38: Ensembl release 89: ...
Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P (Sep 2001). "Mutation analysis in mitochondrial ... fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype ... Other mutations delete or duplicate part of the ACADM gene, which leads to an unstable enzyme that cannot function. ... Medium-chain acyl-coenzyme A dehydrogenase deficiency can be caused by mutations in the ACADM gene. More than 30 ACADM gene ...
Fitnesses of different genotypes. The fitnesses of different genotypes in an African region where there is intense ... Other erythrocyte mutations. Other genetic mutations besides hemoglobin abnormalities that confer resistance to Plasmodia ... Analysis of genome wide association (GWA) and fine-resolution association mapping is a powerful method for establishing the ... mutation - a spontaneous change to a gene, arising from an error in replication of DNA; usually mutations are referred to in ...
This mutation results in a coding change in the protein (G1535D). The analysis of scabies mites collected from suspected ... A Practical Guide To High Resolution Melt Analysis Genotyping. BioRad Tech Note 6004. Pasay C, Arlian L, Morgan M, et al. ( ... Neither allele contains a mutation One or other allele contains a mutation Both alleles contain a mutation. These three ... Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ (June 2003). "High-resolution genotyping by amplicon melting analysis ...
"Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotyping". Clinical Chemistry. 53 ( ... Multi factorial analysis has suggested that the contribution of mechanical noise is the most important factor, and that systems ... Gundry, C.; Vandersteen, J.; Reed, G.; Pryor, R.; Chen, J.; Wittwer, C. (2003). "Amplicon melting analysis with labeled primers ... In addition, when performing high resolution melting analyses, one factor that affects the sensitivity of heteroduplex ...
"Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD". Human ... This second mutation, called a somatic mutation, is acquired during a person's lifetime and is present only in tumor cells. ... Germline mutations in SDHD were first linked to hereditary paraganglioma in 2000. Since then, it has been shown that mutations ... SDHB mutations often lead to metastatic disease that is extra-adrenal, while SDHD mutation related tumors are more typically ...
"In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function ... According to crystallographic analysis, Fe(II) is coordinated by water, His285, His290, and Glu330 (a 2-his-1-carboxylate ... Mutations that have been identified in the PAH locus are documented at the Phenylalanine Hydroxylase Locus Knowledgbase (PAHdb ... Hydrogen/deuterium exchanges analysis indicates that allosteric binding of Phe globally alters the conformation of PAH such ...
"Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense ... Mutations in TCF4 cause Pitt-Hopkins Syndrome (PTHS). These mutations cause TCF4 proteins to not bind to DNA properly and ... In most cases that have been studied, the mutations were de novo, meaning it was a new mutation not found in other family ... May 2007). "Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins ...
"Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes". Annals of Neurology. 58 (5): 680-7. doi:10.1002/ ... Luo R, Yang HM, Jin Z, Halley DJ, Chang BS, MacPherson L, Brueton L, Piao X (Jul 2011). "A novel GPR56 mutation causes ... Loss-of-function mutations in GPR56 cause a severe cortical malformation known as bilateral frontoparietal polymicrogyria (BFPP ... Jin Z, Tietjen I, Bu L, Liu-Yesucevitz L, Gaur SK, Walsh CA, Piao X (Aug 2007). "Disease-associated mutations affect GPR56 ...
1993). "Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its ... 1989). "A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of ... caused by a new nonsense mutation in the thyroxine-binding globulin gene". Thyroid. 8 (2): 161-5. doi:10.1089/thy.1998.8.161. ...
2007). "New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy". J. Neurol. Neurosurg. ... 2007). "Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)". Neuromuscul. Disord. 17 (8): 624-30. doi: ... 2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Mol. Cell. Proteomics. 4 (6 ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
"Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by ... Mutations in this protein cause pseudoxanthoma elasticum (PXE). The most common mutations, R1141X and 23-29del, account for ... Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE. Deficiency of Abcc6 ... Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11". Hum Mutat. 18 (1): 85. doi:10.1002/humu ...
"Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome". Human Genetics. 104 (3): 205-10. doi:10.1007/ ... mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation". Journal ... A mutation of this gene may lead to loss of control over the cell cycle leading to uncontrolled cellular proliferation. p57KIP2 ... Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor ...
... a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening". Human Mutation. 19 (6): ... The genotype is not strongly correlated with severity of the CF, though specific symptoms have been linked to certain mutations ... The remaining cases are caused by over 1500 other mutations, including R117H, 1717-1G>A, and 2789+56G>A. These mutations, when ... The ΔF508 mutation is a deletion of the C-G pair from position 507 along with the first two T-A pairs from position 508, ...
2007). "Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by ... 80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in the ABCC6 gene. Mutations in almost all parts of ... The ABCC6 gene mutation was discovered by Dr. Klaus Lindpainter and Dr. Berthold Struk at Harvard University. Sharon F. Terry, ... 2002). "Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery ...
2007). "Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype- ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. ... 2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". ...
Statistical genetics analysis is used to detect these errors and to detect the possibility of the individual being linked to a ... Gregor Mendel SNP genotyping "Mendelian error detection in complex pedigree using weighted constraint satisfaction techniques ... or de novo mutations. Mendelian error is established by demonstrating the existence of a trait which is inconsistent with every ... A Mendelian error in the genetic analysis of a species, describes an allele in an individual which could not have been received ...
Another analysis has estimated the mutation rate in the herpes simplex 1 genome to be 1.82×10−8 nucleotide substitution per ... The globably distributed genotype has undergone an ancient recombination with herpes simplex 1. The mutation rate has been ... This analysis placed the most recent common ancestor of this virus ~710,000 years ago. For more details on treatment of herpes ... In clinical setting, the mutations in either the thymidine kinase gene or DNA polymerase gene has caused resistance to ...
Topological data analysis uses techniques from algebraic topology to determine the large scale structure of a set (for instance ... Phenotypic forms that appear quite different can be separated by only a few mutations depending on how genetic changes map to ... Topology is also used in evolutionary biology to represent the relationship between phenotype and genotype. ... Topology developed as a field of study out of geometry and set theory, through analysis of concepts such as space, dimension, ...
Analysis of variance. The simplest method for QTL mapping is analysis of variance (ANOVA, sometimes called "marker ... A mutation resulting in a disease state is often recessive, so both alleles must be mutant in order for the disease to be ... In this method, in a backcross, one may calculate a t-statistic to compare the averages of the two marker genotype groups. For ... INTERSNP - a software for genome-wide interaction analysis (GWIA) of case-control SNP data and analysis of quantitative traits ...
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).. Kerem E1, ... In contrast, the patients in the heterozygous-genotype and other-genotype groups who did not have pancreatic insufficiency were ... undefined mutations. The patients who were homozygous for the mutation had received a diagnosis of cystic fibrosis at an ... The variable clinical course in patients with cystic fibrosis can be attributed at least in part to specific genotypes at the ...
... indicating founder mutations. Genotype-phenotype correlation allowed inference of the effect of each mutation on the function ... Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular ... one nonsense mutation in exon 1 (Q15X), one Alu-mediated deletion from intron 4 to intron 6, and one donor splice site mutation ... three missense mutations (Y272C, T274I, S262I), three frameshift mutations in exons 2a, 2b, and 4 (124insT, 241-242ins4, ...
Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations Saoud A Al-khuzaei; Stephanie Halford; Penny Clouston; Robert E ... Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations You will receive an email whenever this article is corrected, ... Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations. Invest. Ophthalmol. Vis. Sci. 2019;60(9):2933. ... This study highlights the importance of genetic analysis for identifying patients with NR2E3 mutations due to its rarity and ...
No FBN1 mutation was detected in any of the subjects. Genotype-phenotype analyses indicated that F-helix mutations are related ... Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial ... Mutation analysis. A novel missense mutation (p.V453E (c.1358T,A) in exon 5) was identified in TGFBR2 in the proband (III: 2), ... with the mutation types being point mutations, insertions, large and small deletions, and splice mutations. The mutations are ...
MOLECULAR ANALYSIS OF FORTY TWO CDA II PATIENTS: NEW MUTATIONS IN THE SEC23B GENE. SEARCH FOR A GENOTYPE-PHENOTYPE RELATIONSHIP ... MOLECULAR ANALYSIS OF FORTY TWO CDA II PATIENTS: NEW MUTATIONS IN THE SEC23B GENE. SEARCH FOR A GENOTYPE-PHENOTYPE RELATIONSHIP ... MOLECULAR ANALYSIS OF FORTY TWO CDA II PATIENTS: NEW MUTATIONS IN THE SEC23B GENE. SEARCH FOR A GENOTYPE-PHENOTYPE RELATIONSHIP ... Design and Methods SEC23B gene sequencing analysis was performed to assess the diversity and incidence of each mutation in 42 ...
... mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation ... Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel ...
... ... Complete HBV genomic sequencing was performed for phylogenetic tree analysis and determination of HBV mutations was carried out ... Two HBV mutations were identified to associate with severe liver fibrosis (G2858C and C2289A) and one mutation was protective ... Ninety-seven per cent of genotype C HBV in Shanghai and Beijing belonged to subgenotype Ce whereas 69% of genotype C patients ...
... reveals a significant correlation between the severity of the genotype and the phenotype in α-mannosidosis. We used the X-ray ... Besides predicting new disease mutations, this approach also provides a way for detecting mutation hotspots in the gene, where ... Mutations in the gene (MAN2B1) encoding lysosomal α-D-mannosidase cause improper coding, resulting in dysfunctional or non- ... Mapping disease mutations to the structure of the protein can help in understanding the functional consequences of these ...
The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype- ... The usefulness of the GDAP1 database is illustrated by the finding that GDAP1 mutations lead to primary axonal damage in CMT, ... phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific ... A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth ...
... structural bioinformatics analysis of inherited mutations in b-D-Mannosidase across multiple species reveals a genotype- ... Huynh, T., Khan, J.M., Ranganathan, S. (2011). A comparative structural bioinformatics analysis of inherited mutations in b-D- ... In general, the proximity of mutations to the active site determines the severity of phenotypic expressions. Mapping mutations ... Mutations in the MANBA gene that codes for lysosomal b-mannosidase, result in improper coding and malfunctioning of protein, ...
Genotype and Mutation Analyses.. For intrapatient comparison of isolates, we performed random amplification of polymorphic DNA ... The proportion of each genotype was determined by qRT-PCR by using genotype specific primer pairs as detailed in the legend of ... and the remaining 5 patients harbored isolates with 2 genotypes (Table 1). In 7 patients colonized by a single genotype with an ... Genotypes of isolates from each individual patient were compared by RAPD. (B) The lasR and rhlR genes were sequenced in at ...
The genotypes and phenotypes of these six mutations are described and compared. To date, 13 MMP20 mutations causing AI have ... To address how various alterations produce a range of AI phenotypes, we performed a targeted analysis to find MMP20 mutations ... To address how various alterations produce a range of AI phenotypes, we performed a targeted analysis to find MMP20 mutations ... We thus identified six functional MMP20 mutations in unrelated families, finding two novel mutated sites. The genotypes and ...
The genotypes of the KLK4 c.632delT variant (NM_004917.4) for each individual for which DNA was available for analysis are ... suggests that the mutation may be the result of a common ancestral founder mutation. Analysis of the haplotype that surrounded ... Analysis of human enamel affected by the KLK4 c.632delT mutation has shown common features with those described for enamel in ... Genotyping. Whole-Exome Sequencing and Analysis. Genomic DNA from a single individual from families 1, 2, 3, and 5 (marked with ...
Cardiovascular phenotype does not correlate with the type or location of JAG1 mutation. ... of individuals with a JAG1 mutation or AGS have cardiovascular anomalies, with branch PA stenosis the most common abnormality. ... Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille ... Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille ...
Hans Bisgaard and colleagues show an association between mutations in the filaggrin gene (FLG) and ownership of cats, but not ... or their interaction with FLG genotype (p = 0.96). Analysis including only children carrying mutant alleles demonstrated a ... 2007) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and ... Probes and primers were as described . Mutation 2282del4 was genotyped by sizing of a fluorescent-labeled PCR fragment on an ...
Data extraction and analysis. In addition to the genotype, the following data were collected for all patients: gender, age at 1 ... This mutation is suggested to be a Dutch founder mutation.5 Homozygosity for this mutation has not been described yet, ... C.8147T,C; p.(Val2716Ala) missense mutation. The ATM c.8147T,C mutation is a pathogenic missense mutation that so far has been ... ATM gene mutation analysis and measurement of ATM protein expression and ATM kinase activity in lymphoblastoid cell lines were ...
Genotype-Phenotype Analysis of Somatic Mutations in Intracranial Arteriovenous Malformations ... Genotype-Phenotype Analysis of Somatic Mutations in Intracranial Arteriovenous Malformations. Dennis J. Konczyk1, Jeremy A. ... A genotype-phenotype correlation does not exist between brain AVM mutation type and clinical findings, although BRAF mutations ... The purpose of this study was to identify novel somatic mutations in brain AVMs and to determine if a genotype-phenotype ...
Linkage and mutation analyses have indicated that 29-82% of USH1 cases are possibly the result of a mutation in MYO7A, ... Microsatellite genotyping. To determine whether USH1 syndrome in these families is linked to one of the known loci, ... one frameshift mutation, and two nonsense mutations (Figure 3). The frameshift mutation is caused by nucleotide deletion c. ... NADf chip analysis and Sanger sequencing of MYO7A resulted in the identification of two pathological mutations, c.470+1G,A and ...
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.. Alfonso P1,2, Aznarez S3,4, ... finding 56 different GBA mutations and 66 genotypes causing GD in Spain: 47 previously described mutations and 9 novel ... The aim of this study was to characterise the GBA mutations and analyze genotype/phenotype relationships in 193 unrelated ... Mutations in the glucocerebrosidase (GBA) gene cause Gaucher disease (GD). ...
Several observations support the pathogenic nature of these STN1 mutations. First, mutation analysis in both families suggested ... STN1 mutation genotyping. 80 ethnically matched healthy controls (160 alleles) were examined for the STN1 mutated and wild-type ... Data represents two to four independent analyses of at least 200 cells per analysis. Statistical analysis was performed by a ... and thermodynamic consequences of the reported mutations and cell cycle analysis. Online supplemental material is available at ...
Genotyping and Mutation Analysis. DNA was extracted from tomato leaves using a modified CTAB method (Murray and Thompson, 1980 ... S1). Sequence analysis of each of these sites in the LRR-2 line indicated that heritable mutations were present at each of ... During mutation analysis, it became clear that the scoring parameters used to select the LRR-XII gRNAs incorrectly scored two ... Lines without mutations in T0 were checked for new mutations in T1, but no new on-target mutants were identified. However, two ...
Hardy-Weinberg equilibrium analysis was conducted using Haploview. An association between genotype and prostate cancer was ... Analysis and interpretation of data (e.g., statistical analysis, biostatistics, computational analysis): J.P. Breyer, T.G. ... Given the rarity of the mutation, power was limited to assess the relative impact of the mutation upon age of diagnosis or upon ... Genotypes were successfully obtained for 99.2% of subjects. Genotype data were in Hardy-Weinberg equilibrium among controls, ...
We considered the common practice of testing a bulk sample for mutations, which finds only mutations that are common within the ... far more mutations than others are likely to conclude that the high-mutation samples reflect cells with an abnormal mutation or ... Our computer simulations show that even when all cells have identical mutation and growth rates, testing bulk samples ... possible solutions involving either genetic testing of single cells or the use of computer algorithms to detect rare mutations ...
Genetic: Genetic Analysis Detailed Description: During this study visit, the investigator will draw one tube, about two ... Dent Disease Mutation Genotyping. This study is currently recruiting participants. See Contacts and Locations ... This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe ... Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene [ Time Frame: 4 years ]. ...
Lin SH, Shiang JC, Huang CC, Yang SS, Hsu YJ, Cheng CJ: Phenotype and genotype analysis in Chinese patients with Gitelmans ... Analysis of Splicing Mutations. DNA analysis revealed three different point mutations that occurred in the invariant motif of ... Five mutations that were predicted to alter the normal RNA splicing were confirmed by cDNA analysis. Analysis of the ... Mutation analysis also yielded important information. The SLC12A3 mutations that were associated with a severe presentation in ...
PhenotypeClinicalDetectionCorrelationsGermline mutationsHepatitis B virus genotypLoss-of-function mutatiFrequencyHumansSomatic mutationsAssaysC282Y and H63DMolecularDeletionsGenomeFamilialPartial response rate of 84PolymorphismsMicrosatelliteSevereDifferent mutationsStrainsDistribution of hepatitis B virAmplificationMutantHomozygous genotypeFunctionalKinaseSusceptibilityFounder mutationsKRASResultsGenomesSingle nucleotide pIsolatesMtDNA mutationsPredominantGene that encodesSequencesMethylationHRASConferPrevalence
- The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). (nih.gov)
- Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. (nih.gov)
- Genotype-phenotype correlation allowed inference of the effect of each mutation on the function of the SMN1 protein and the role of the SMN2 copy number in modulating the SMA phenotype. (nih.gov)
- This study highlights the importance of genetic analysis for identifying patients with NR2E3 mutations due to its rarity and variable phenotype. (arvojournals.org)
- Genomic DNA from peripheral blood leukocytes of a Chinese proband with Marfan syndrome, five of the proband's relatives, and 100 unrelated Chinese control subjects were isolated and screened for fibrillin-1 ( FBN1 ) and TGFBR2 gene mutations by direct sequencing, and a genotype-phenotype study was performed following a review of the literature on TGFBR2 mutations in the search area. (molvis.org)
- Here we established the molecular basis of 42 CDA II cases and attempted at defining a genotype-phenotype relationship. (haematologica.org)
- A comprehensive homology modeling study of all the wild-type and inherited mutations of lysosomal α-mannosidase in four different species, human, cow, cat and guinea pig, reveals a significant correlation between the severity of the genotype and the phenotype in α-mannosidosis. (biomedcentral.com)
- However, clinicians, geneticists and molecular biologists have not been able to correlate the genotypic mutations with the observed phenotype [ 2 ]. (biomedcentral.com)
- The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. (biomedcentral.com)
- This study was undertaken to determine the spectrum of cardiovascular phenotypes associated with a JAG1 mutation and/or AGS, investigate potential genotype-phenotype correlations, and begin to correlate clinical outcome with genetic pathogenesis. (cdc.gov)
- Branch PA phenotype differed between individuals with and without a JAG1 mutation. (cdc.gov)
- Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. (cdc.gov)
- The aim of this study was to characterise the GBA mutations and analyze genotype/phenotype relationships in 193 unrelated patients from the Spanish GD Registry. (cdc.gov)
- The purpose of this study was to identify novel somatic mutations in brain AVMs and to determine if a genotype-phenotype association exists. (nesps.org)
- A genotype-phenotype correlation does not exist between brain AVM mutation type and clinical findings, although BRAF mutations may be associated with later symptom onset. (nesps.org)
- Recently, mutations in a basolateral chloride channel CLC-Kb (CLCNKB) have been described in a subset of patients with a Bartter-like phenotype typically lacking nephrocalcinosis. (asnjournals.org)
- Interestingly, the phenotype elicited by CLCNKB mutations occasionally includes HPS/aBS, as well as a Gitelman-like phenotype. (asnjournals.org)
- In this study, we show that an SMN A2G missense mutation rescues the severe SMA phenotype in low copy SMN2;Smn − / − mice but is unable to rescue Smn − / − embryonic lethality in the absence of the SMN2 gene. (rupress.org)
- By including protein and gene analysis, this test provides a comprehensive assessment and enables appropriate genotype-phenotype correlations. (testcatalog.org)
- PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. (icr.ac.uk)
- This provides further evidence that the underlying PHOX2B mutational mechanism influences tumor risk and suggests that the position of missense mutations may influence the resulting phenotype. (icr.ac.uk)
- There are several examples in metabolic disease where common variants close to a particular gene are associated with alterations in risk of common phenotypes such as fat mass or risk of obesity, whereas rare loss- or gain-of-function mutations in the same gene are associated with a more severe version of the same metabolic phenotype (e.g. (diabetesjournals.org)
- This model, termed neb , harbors a recessive mutation in the nebulin gene that results in decreased Nebulin protein levels, a severe motor phenotype and premature lethality. (biologists.org)
- No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis. (bmj.com)
- Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures. (bmj.com)
- Clinical data and photographs were collected to facilitate genotype-phenotype analyses. (bmj.com)
- All patients with PAX3 mutations had typical phenotype of WS with dystopia canthorum (WS1), whereas patients with MITF gene mutations presented without dystopia canthorum (WS2). (bmj.com)
- Furthermore, our genotype-phenotype analyses indicate that WS2 and TS correspond to a clinical spectrum that is influenced by MITF mutation type and position. (bmj.com)
- They add valuable information about the complex issue of genotype/phenotype correlations in osteogenesis imperfecta (OI). (aappublications.org)
- No germline mutations in TET2 , CBL or MPL that segregate with the disease phenotype were identified. (haematologica.org)
- Sanger sequencing was performed to screen for LRP5 , NDP , and TSPAN12 mutations and phenotype-genotype correlation was analyzed. (arvojournals.org)
- Potential phenotype-genotype correlation was observed in the modified system. (arvojournals.org)
- TSPAN12 mutations might lead to the most severe phenotype. (arvojournals.org)
- In the present study we report a novel βMHC mutation found in a patient with isolated LVNC [LV (left ventricular) non-compaction] and the phenotype of a mouse mutant model carrying the same mutation. (portlandpress.com)
- A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. (ugent.be)
- Both the clinical manifestations of cystic fibrosis and the genotypes of patients are heterogeneous, but the associations between the two are not known. (nih.gov)
- We therefore studied blood samples from 293 patients with cystic fibrosis for the presence of the most common disease-causing mutation (delta F508) on chromosome 7 and compared the results with the clinical manifestations of the disease. (nih.gov)
- The patients with pancreatic insufficiency in all three genotype groups had similar clinical characteristics, reflected by an early age at diagnosis, similar sweat chloride values at diagnosis, similar severity of pulmonary disease, and similar percentiles for weight. (nih.gov)
- The variable clinical course in patients with cystic fibrosis can be attributed at least in part to specific genotypes at the locus of the cystic fibrosis gene. (nih.gov)
- Design and Methods SEC23B gene sequencing analysis was performed to assess the diversity and incidence of each mutation in 42 CDA II patients (25 described in this work exclusively), from the Italian and the French Registries, and their relationship to the clinical presentation. (haematologica.org)
- We aimed to study the distribution of hepatitis B virus (HBV) genotypes/subgenotypes in different parts of China and their clinical impact on the severity of hepatitis B e antigen (HBeAg)-negative chronic hepatitis B. Residual serum samples from a cohort of HBeAg-negative chronic hepatitis B patients in Hong Kong, Shanghai and Beijing were studied. (ovid.com)
- Mapping disease mutations to the structure of the protein can help in understanding the functional consequences of these mutations and thus indirectly, the finer aspects of the pathology and clinical manifestations of the disease, including phenotypic severity as a function of the genotype. (biomedcentral.com)
- Mapping disease mutations to the structure of a protein can help in understanding the finer aspects of the pathology and clinical manifestations of a disease. (biomedcentral.com)
- An association between mutation type and clinical characteristics was not present, although the two AVMs containing a BRAF mutation affected the oldest patients in the cohort. (nesps.org)
- Loss-of-function mutations of NCC explain the clinical manifestations of GS, which are similar to the prolonged administration of thiazide diuretics ( 12 ). (asnjournals.org)
- However, clinical studies have revealed that patients with GS show a considerable phenotypic variability not only among patients who carry a wide variety of SLC12A3 mutations ( 5 ) but also when a common underlying mutation is present in unrelated patients ( 17 ) and even in affected patients from the same family ( 18 - 20 ). (asnjournals.org)
- Functional analysis has been performed only for a limited number of mutations, without phenotypic counterpart, and the potential correlations between the position/nature of mutation in SLC12A3 , the mutation-determined transcriptional profile, and the clinical manifestations have not been addressed. (asnjournals.org)
- Penetrance in this case can be defined as the frequency with which individuals of particular genotypes develop either iron overload or clinical manifestations. (springer.com)
- Using this method, we assessed the clinical impact of changes in the frequency and topology of PIK3CA mutation and HER2 ( ERBB2 ) amplification within HER2-positive breast cancer during neoadjuvant therapy. (nature.com)
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. (biomedsearch.com)
- Analysis of ORNT2 did not provide explanation of the clinical and biochemical variability. (biomedsearch.com)
- In summary, neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation, and thus are an excellent model for future therapy development for this devastating disorder. (biologists.org)
- HHC can be defined by the presence of genetic mutations in the HFE gene, or biochemical markers of iron metabolism, or the presence of clinical symptoms. (cdc.gov)
- A recent report into the genetic variation of PCV2 identified nine different genotypes in clinical tissue specimens collected from pigs in different regions of China between 2001 and 2003, by PCR and restriction fragment length polymorphism (RFLP) analysis of the ORF2 region. (biomedcentral.com)
- High-throughput genotyping and Sanger sequencing for clinical trials. (operon.com)
- Patients with glioma with isocitrate dehydrogenase 1 ( IDH1 ) mutations have a better clinical outcome than those without such mutations. (ajnr.org)
- Longer-term, we expect mtDNA mutations to have clinical potential, helping personalise effective treatments for glioblastoma patients. (port.ac.uk)
- The clinical benefit of sunitinib is genotype-dependent in regards to both primary and secondary mutations, with GIST patients harboring the KIT AY502-3ins exon 9 mutation being the most sensitive. (aacrjournals.org)
- The clinical benefit of sunitinib is genotype-dependent, with GIST patients harboring a KIT exon 9 mutation being the most sensitive. (aacrjournals.org)
- Clinical responses to imatinib in GIST depend on the presence and type of KIT or platelet-derived growth factor receptor-α ( PDGFRA ) gain-of-function mutations. (aacrjournals.org)
- Is the Subject Area "Mutation detection" applicable to this article? (plos.org)
- Free webinar: Sensitive detection and analysis of microRNAs in limited biofluid samples. (thermofisher.com)
- Two methods of screening for the detection of early stage of HHC are available: serum iron measures and molecular testing to detect mutations in the HHC gene, called HFE . (cdc.gov)
- Circulating tumor DNA (ctDNA) has offered a minimally invasive and feasible approach for detection of EGFR mutation for non-small cell lung cancer (NSCLC). (aacrjournals.org)
- We searched PubMed, EMBASE, Cochrane Library, and Web of Science to identify eligible studies that reported the sensitivity and specificity of ctDNA for detection of EGFR mutation status in NSCLC. (aacrjournals.org)
- ctDNA is a highly specific and effective biomarker for the detection of EGFR mutation status. (aacrjournals.org)
- Sanger sequencing is a common downstream verification step for many mutation detection assays. (retrogen.com)
- High Resolution Melting Analysis is a technique of molecular biology used for the detection of mutations, polymorphisms and epigenetic differences in double stranded DNA samples. (emailwire.com)
- The recent availability of livestock genome sequences and high-density SNP chips has allowed detection of significant association of nucleotide polymorphisms with complex traits, and effective identification of causal mutations for some monogenic traits - . (prolekare.cz)
- The aim of this study was to examine the role of the JAK2 GGCC haplotype and germline mutations of TET2 , CBL and MPL in familial myeloproliferative neoplasms. (haematologica.org)
- Conclusions We conclude that the JAK2 GGCC haplotype and germline mutations of TET2 , CBL or MPL do not explain familial clustering of myeloproliferative neoplasms. (haematologica.org)
- Therefore, we investigated whether there is an interaction between FLG loss-of-function mutations with environmental exposures (pets and dust mites) in relation to the development of eczema. (plos.org)
- The disease is due to loss of function mutations in the SLC12A3 gene (16q13) that codes for the thiazide-sensitive NaCl co-transporter (NCC) ( 2 - 10 ). (asnjournals.org)
- the data produced were compared with the frequency of HFE mutations in a large sample of the local population. (springer.com)
- We compared the in vitro activity of anti-TB drugs against susceptible Beijing and EAI M. tuberculosis isolates from Vietnam and determined the in vitro mutation frequency of these strains during drug exposure. (cdc.gov)
- Due to the low frequency of individual LS mutations and heterogeneity in phenotypic expression, it has proven difficult to accurately establish population-based prevalences and to assess the cancer penetrance of LS gene mutations. (nature.com)
- Frequency of A1896 mutation leading to HBeAg negativity was low. (wjgnet.com)
- In the U.S., a recent population-based study estimated that among whites the frequency of HFE genotypes containing two mutations (C2982Y/C282Y, C282Y/H63D, and H63D/H63D) is about 5% ( 9 ). (cdc.gov)
- Results Association analysis revealed no difference in haplotype frequency between familial and sporadic cases of myeloproliferative neoplasms ( P =0.6529). (haematologica.org)
- Lesions typically are sporadic and contain somatic mutations in KRAS or BRAF . (nesps.org)
- Sporadic intracranial AVMs contain somatic mutations in KRAS and less commonly BRAF . (nesps.org)
- Accumulating somatic mutations have been implicated in age-related cellular degeneration and death. (sciencemag.org)
- Because of their random nature and low abundance, somatic mutations are difficult to detect except in single cells or clonal cell lineages. (sciencemag.org)
- However, this approach does not allow a genome-wide, direct analysis of somatic mutations in human primary cells. (sciencemag.org)
- More recently, using single-cell whole-genome sequencing (WGS), somatic mutations were found to accumulate with age in human neurons ( 6 ) and B lymphocytes ( 7 ). (sciencemag.org)
- Others also reported increased somatic mutations in human primary cells isolated from intestine, colon, and liver, albeit in clones propagated from human tissue-specific stem cells ( 8 ), which may not be representative of the differentiated cells that ultimately provide tissue function. (sciencemag.org)
- As we observed variability in somatic mutations in the affected members of a pedigree with myeloproliferative neoplasms, we postulated that somatic mutagenesis is increased in familial myeloproliferative neoplasms. (haematologica.org)
- Tumor specific mutations can be used to detect recurrences in urine assays, presenting a more patient-friendly diagnostic procedure than cystoscopy. (biomedsearch.com)
- With this assay and mutation assays for the FGFR3 and PIK3CA oncogenes, we screened primary bladder tumors of 257 patients and 184 recurrences from 54 patients. (biomedsearch.com)
- In vitro assays offering low volume sampling and rapid analysis in ahigh-throughput manner are of great interest in a wide range of single-cellapplications. (diva-portal.org)
- Human brain AVM specimens (n=18) were collected during a clinically-indicated procedure and subjected to multiplex targeted sequencing using molecular inversion probe (MIP-seq) for mutations in KRAS , BRAF , HRAS, NRAS, and MAP2K1 . (nesps.org)
- We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. (osti.gov)
- Biochemical and molecular analysis confirmed that she had HHH syndrome. (biomedsearch.com)
- Prenatal ultrasound and molecular analysis have been suggested as standards to diagnose very severe OI prenatally (1). (aappublications.org)
- The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. (jax.org)
- Forty-three tumor nodules from 28 patients were available for pathologic and molecular analysis, which included genotyping for primary and secondary KIT/PDGFRA -mutations, cell cycle alterations, and biochemical activation status of KIT and downstream targets. (aacrjournals.org)
- Various mutations like missense, nonsense, insertions, deletions and also some splicing mutations have been described in the four species to date. (biomedcentral.com)
- Repair of the DSB by the error-prone nonhomologous end-joining pathway typically results in short insertions and/or deletions that can produce knockout mutations in protein-coding sequences ( Mladenov and Iliakis, 2011 ). (plantphysiol.org)
- Moreover, The GC+CC genotypes of survivin -31 were associated with EGFR L858R mutation but not in exon 19 in-frame deletions. (medsci.org)
- The effect of EGFR tyrosine kinase inhibitors (EGFR-TKI) has been linked to EGFR mutations in cancer cells, most of which are exon 19 deletions followed by exon 21 L858R mutations [ 3 - 5 ]. (medsci.org)
- Of these, six were large deletions or duplications that were only detectable by copy number analysis. (bmj.com)
- In view of the CNS lesions, which initially were felt to be suggestive of MELAS, we sequenced the entire mtDNA genome and no potential pathogenic mutations were detected. (biomedsearch.com)
- To date, the DNA of over 150,000 Icelanders has undergone whole-genome analysis on microarray platforms. (nature.com)
- Conduct causal mutation identification with fine mapping, whole genome re-sequencing, and genotype imputation. (usda.gov)
- A considerable number of mutations were found in functional parts of the liver genome, suggesting that somatic mutagenesis could causally contribute to the age-related functional decline and increased incidence of disease of human liver. (sciencemag.org)
- Evidence has accumulated that loss of genome integrity and the increasingly frequent appearance of various forms of genome instability, from chromosomal aneuploidy to base substitution mutations, are hallmarks of aging ( 1 , 2 ). (sciencemag.org)
- Assay development for validation and genotyping of SNPs and small insertion or deletion mutations in complex areas of the genome. (operon.com)
- Compared with a whole-genome strategy, the cost and effort of TEDNA-seq analysis can be lower because of selective recovery and subsequent sequencing. (springer.com)
- A recent study of familial and early onset prostate cancer reported a recurrent rare germline mutation of HOXB13 among men of European descent. (aacrjournals.org)
- We evaluated the G84E germline mutation (rs138213197) of HOXB13 in a case-control study of familial prostate cancer at Vanderbilt University (Nashville, TN) to independently evaluate the association of the mutation with familial prostate cancer. (aacrjournals.org)
- We genotyped 928 familial prostate cancer probands and 930 control probands without a personal or family history of prostate cancer. (aacrjournals.org)
- We observed the mutation in 16 familial cases and in two controls, each as heterozygotes. (aacrjournals.org)
- This study independently confirms the association of a germline HOXB13 mutation with familial prostate cancer. (aacrjournals.org)
- These obstacles have posed a marked challenge for the discovery of gene mutations underlying familial prostate cancer. (aacrjournals.org)
- With this background in mind, the recently described germline mutation G84E of HOXB13 among familial prostate cancer cases is a noteworthy discovery ( 21 ). (aacrjournals.org)
- Within a case-control series of that study, the mutation was detected in 45 of 2,064 (2.2%) familial cases, in 19 of 2,410 (0.8%) sporadic cases, and in one of 1,401 (0.07%) controls. (aacrjournals.org)
- Our study sought independent confirmation of the association of the HOXB13 germline mutation with prostate cancer in familial prostate cancer case probands and controls with no personal or family history of prostate cancer. (aacrjournals.org)
- 0.01%, have been imputed into the genomes of those genotyped and into un-genotyped close relatives identified via genealogic databases (familial imputation). (nature.com)
- This familial imputation allows the inclusion of genotypes for cancer cases that were diagnosed decades ago, greatly enhancing the power of this study. (nature.com)
- Sequence analysis of TET2 , CBL and MPL was conducted in the 88 patients with familial myeloproliferative neoplasms. (haematologica.org)
- Patients with KIT exon 11 mutations have a partial response rate of 84% compared with a 0% partial response rate among patients without KIT mutations ( 4 ). (aacrjournals.org)
- Thus, patients with exon 11 mutations show a partial response rate of 84%, whereas patients with tumors harboring a KIT exon 9 or no detectable mutation had a partial response rate of 48% and 0%, respectively ( 2 ). (aacrjournals.org)
- The current study explored the effect of survivin gene polymorphisms and EGFR mutations in non-small-cell lung carcinoma (NSCLC) patients. (medsci.org)
- Association analysis was performed using tagged single nucleotide polymorphisms ( rs10974944 and rs12343867 ) of the JAK2 haplotype. (haematologica.org)
- Then, we selected microsatellite markers covering USH1 known loci to genotype the DNA samples. (molvis.org)
- Genotyping with microsatellite markers demonstrated a partial common haplotype in the two families, and a common founder mutation could not be excluded. (hindawi.com)
- Others studies have reported chloroquine-resistant haplotypes in 2 travelers returning from Haiti ( 3 ), 2/901 persons with possible mixed infections (chloroquine resistant and chloroquine sensitive) ( 4 ), and 1/108 cases analyzed in which microsatellite genotyping showed that the chloroquine-resistant haplotype detected was distinct from those of parasites circulating in Haiti ( 5 ). (cdc.gov)
- The ﬁndings extend the mutation spectrum of Marfan syndrome, and that mutations at the F-helix in the kinase domain of TGFBR2 may be associated with the development of severe cardiovascular and skeletal lesions and minor ocular lesions. (molvis.org)
- Mutations associated with severe liver fibrosis (Ishak score 4 or more) were selected by computerized information gain criteria. (ovid.com)
- Two HBV mutations were identified to associate with severe liver fibrosis (G2858C and C2289A) and one mutation was protective against severe liver fibrosis (T2201C). (ovid.com)
- The usefulness of the GDAP1 database is illustrated by the finding that GDAP1 mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease. (biomedcentral.com)
- The mutations that were associated with a severe presentation were the combination at least for one allele of a missplicing resulting in a truncated transcript that was downregulated by nonsense-mediated decay or a nonfunctional, cell surface-absent mutant. (asnjournals.org)
- This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease. (clinicaltrials.gov)
- This meta-analysis summarizes the strong evidence for a high eczema risk conferred by FLG mutations and refines their risk profiles, suggesting an association with more severe and secondary care disease. (nih.gov)
- These murine models recapitulate the salient features of human NEB mutation, including severe muscle weakness, impaired force generation and histopathological changes including reduced thin filament length and the presence of nemaline rods and bodies. (biologists.org)
- NOD mice homozygous for the Tnfrsf6 lpr mutation are deficient in Fas antigen expressed on cell surfaces, and the disruption of the Fas-mediated apoptotic pathway results in severe lymphoma in NOD by 4 months of age. (jax.org)
- To determine differences in the ability of Mycobacterium tuberculosis strains to withstand antituberculosis drug treatment, we compared the activity of antituberculosis drugs against susceptible Beijing and East-African/Indian genotype M. tuberculosis strains. (cdc.gov)
- Beijing genotype strains showed high rates of mutation within a wide range of drug concentrations, possibly explaining this genotype's association with multidrug-resistant tuberculosis. (cdc.gov)
- There are also indications that the population structure of M. tuberculosis in areas with a high prevalence of anti-TB drug resistance is changing rapidly toward an increase in Beijing genotype strains ( 2 , 6 - 8 ). (cdc.gov)
- BD Diagnostics, Sparks, MD, US) (for details, see the Technical Appendix ) showed that all 5 Beijing and 5 EAI genotype strains were susceptible to isoniazid (INH), rifampin (RIF), moxifloxacin (MXF), and amikacin (AMK). (cdc.gov)
- The sequence data showed remarkable similarity with a Thai strain (AF068756) (99.5% ± 0.4% nucleotide identities) in 90% of the genotype C strains analyzed. (wjgnet.com)
- The Tnfrsf6 lpr spontaneous mutation originally arose at the 12th generation of inbreeding of strain MRL/Mp, derived from strains LG, AKR, C3H, and C57BL/6. (jax.org)
- This mutation was found during inbreeding of a strain MRL/Mp derived from crosses among strains LG, AKR, C3H, and C57BL/6. (jax.org)
- In this study, extensive mutational analyses of SLC12A3 were performed in 27 patients with GS, including genomic DNA sequencing, multiplex ligation-dependent probe amplification, cDNA analysis, and quantification of allele-specific transcripts, in parallel with functional analyses in Xenopus laevis oocytes and detailed phenotyping. (asnjournals.org)
- Thermo Fisher offers real-time PCR products and other tools specifically for genotyping and genetic variation research, from isolating and purifying genomic DNA, selecting probe and primers, DNA amplification, performing allelic discrimination, and analyzing data. (thermofisher.com)
- As an innovative leader in gene expression analysis techniques, Invitrogen Cells-to-C T Kits allow you to measure relative gene expression by real-time RT-PCR without having to purify RNA prior to amplification. (thermofisher.com)
- After performing PCR amplification of the target sequence, no additional instrumentation is required for HRM Analysis. (premierbiosoft.com)
- The most recurrent mutation on the second allele was a newly described NCC mutant that affected the functional properties of the co-transporter. (asnjournals.org)
- Between 8 and 16 weeks of age, the suppressed LV1-5 width indices were sustained in both genotype mutant groups relative to control osteomaturation rates. (biomedcentral.com)
- In patients with low-grade NMI-BC, 88% of the primary tumors carried a mutation and 88% of the recurrences were mutant. (biomedsearch.com)
- Ninety-three patients with World Health Organization grade II gliomas with known IDH1- mutation and 1p/19q-codeletion status (18 IDH1 wild-type, 45 IDH1 mutant and no 1p/19q codeletion, 30 IDH1- mutant and 1p/19q codeleted tumors) underwent DTI. (ajnr.org)
- Next, we generated six lines of transgenic mice carrying a p.Met532Arg mutant αMHC gene, which was identical with the p.Met531Arg mutation in the human βMHC. (portlandpress.com)
- Thus, homology modeling studies suggest a potential mechanism whereby the D614G mutation may confer a competitive advantage at the furin binding domain that may contribute to the rise of the D614G SARS-CoV-2 mutant. (preprints.org)
- Order BTKK / Bruton Tyrosine Kinase ( BTK ) Genotype, Known Mutation. (testcatalog.org)
- The secondary mutations tend to be single amino acid substitutions in the KIT kinase domains and occur most often in exon 17. (aacrjournals.org)
- Moreover, in vitro mutagenesis with or without N -ethyl- N -nitrosourea of Ba/F3 cells expressing KIT AY502-3ins showed acquisition of secondary mutations restricted to the second kinase domain of KIT. (aacrjournals.org)
- In contrast, in vitro resistance to imatinib produces a broader spectrum of secondary mutations including mutations in both KIT kinase domains. (aacrjournals.org)
- The most common mechanism of acquired resistance is through a secondary KIT mutation, usually located in either the NH 2 -terminal or the COOH-terminal kinase domain, which disrupts imatinib binding by stabilizing the receptor in a more active conformation. (aacrjournals.org)
- Li-Fraumeni cancer susceptibility syndrome (with germline TP53 mutations). (oncolink.org)
- There are recent reports that a JAK2 gene haplotype (GGCC or 46/1) confers susceptibility to JAK2 mutation-positive myeloproliferative neoplasms. (haematologica.org)
- A mutation and susceptibility to Recurrent pregnancy loss (RPL), there have been confliction among the results of various ethnic groups. (springer.com)
- Each intragenic mutation found in at least two patients occurred on the same haplotype background, indicating founder mutations. (nih.gov)
- We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations. (nature.com)
- and (iv) the isolation and relative homogeneity of the population which enhances the potential to discover founder mutations. (nature.com)
- FGFR3, HRAS, KRAS, NRAS and PIK3CA mutations in bladder cancer and their potential as biomarkers for surveillance and therapy. (biomedsearch.com)
- We analyzed KRAS mutations in single CTCs from patients with metastatic colorectal cancer (mCRC) using a new single-cell picking system. (springer.com)
- KRAS genotype was evaluated in a total of 284 CTCs from 11 patients, and 15 cells with mutations were identified in four patients. (springer.com)
- In two patients, different KRAS mutations were found among individual CTCs. (springer.com)
- KRAS genotype may not be an accurate predictor of treatment response owing to genetic differences between primary and metastatic tumors. (springer.com)
- The genetic analysis results were obtained using the HaloPlex Target Enrichment system. (arvojournals.org)
- We show here, for the first time, that a null mutation of Hhex results in striking abnormalities of cardiac and vascular development which include: (1) defective vasculogenesis, (2) hypoplasia of the right ventricle, (3) overabundant endocardial cushions accompanied by ventricular septal defects, outflow tract abnormalities and atrio-ventricular (AV) valve dysplasia and (4) aberrant development of the compact myocardium. (biologists.org)
- Genetic analysis of the CHST6 gene was performed, followed by a study of the sequencing results. (bmj.com)
- These results provide the first evidence of an increased risk of obesity in heterozygous carriers of mutations in the PCSK1 gene. (diabetesjournals.org)
- In addition, genotype C (HBV/C) was detected in 42/230 (18%) isolates. (wjgnet.com)
- Surface gene region was sequenced from 45 isolates (27 HBV/C, 9 HBV/A and 9 HBV/D). Phylogenetic analysis revealed that all of the HBV/C sequences clustered with South East Asian subgenotype (HBV/Cs). (wjgnet.com)
- T1762/A1764 mutation in BCP region, associated with high ALT was significantly higher in HBeAg negative isolates than HBeAg positive isolates. (wjgnet.com)
- PCR-RFLP methodology was used to distinguish isolates and capture ELISA was used to demonstrate the antigenic changes resulted from ORF2 gene mutation of the isolates. (biomedcentral.com)
- The 19 isolates were designated into three genotypes (PCV2a, PCV2b and PCV2d). (biomedcentral.com)
- The main site for ROS production is the respiratory chain inside the mitochondria and accumulation of mtDNA mutations, and impaired respiratory chain function have been associated with degenerative diseases and aging. (pnas.org)
- Here we show that these mtDNA mutator mice accumulate mtDNA mutations in an approximately linear manner. (pnas.org)
- iii ) ROS-induced mtDNA mutations lead to the synthesis of functionally impaired respiratory chain subunits, causing respiratory chain dysfunction and augmented ROS production ( 2 ). (pnas.org)
- iv ) This vicious cycle is proposed to cause an exponential increase of mtDNA mutations over time, resulting in aging and associated degenerative diseases. (pnas.org)
- In addition, mammalian aging has been associated with increased oxidative damage to proteins ( 5 ) and accumulation of somatic mtDNA mutations ( 6 - 8 ), and there is also an emerging consensus that there is an age-associated decline of respiratory chain function with increasing age ( 9 ). (pnas.org)
- These mtDNA mutator mice accumulate a substantial burden of somatic mtDNA mutations, associated with premature aging and reduced lifespan. (pnas.org)
- During this project, you will validate the importance of this inherited mutation further, and extend the investigation to other mtDNA mutations we have discovered through our glioblastoma next generation sequencing studies. (port.ac.uk)
- The predominant genotypes D (HBV/D) and A (HBV/A) were detected in 131/230 (57%) and 57/230 (25%) samples. (wjgnet.com)
- Since 2003, variation has been reported in the predominant genotypes of PCV2 worldwide, and genotype PCV2b was thought to be the most prevalent form showing enhanced pathogenicity. (biomedcentral.com)
- The predominant mechanism of acquired resistance to imatinib is via additional mutations in KIT identified in half of the cases. (aacrjournals.org)
- Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk of NB. (icr.ac.uk)
- To establish a comprehensive profile of acquired mutations that confer drug resistance to KIT exon 9 mutants, Ba/F3 cells expressing KIT 502-3AYins were subjected to N -ethyl- N -nitrosourea mutagenesis and sunitinib selection. (aacrjournals.org)
- Overall prevalence of mutations associated with resistance to CQ and SP was extremely high. (biomedcentral.com)
- The Beijing genotype is significantly associated with drug resistance ( 2 , 3 ), especially in geographic areas where prevalence of resistance to anti-TB drugs is high, and it is associated with recent TB transmission ( 2 - 6 ). (cdc.gov)
- In the U.S., for example, among whites the prevalence of homozygosity for C282Y mutation is 0.30% (95% CI 0.12-0.82), about 1 in 333 individuals ( 9 ). (cdc.gov)
- Similar estimates were reported among members of a health maintenance organization where the prevalence of C282/C282Y genotype in whites was 0.4% ( 11 ). (cdc.gov)
- The prevalence of the newly identified mutations was assessed in 6,233 obese and 6,274 lean European adults and children, which showed that carriers of any of these mutations causing partial PCSK1 deficiency had an 8.7-fold higher risk to be obese than wild-type carriers. (diabetesjournals.org)