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Definition
 
enEnglish
Mutation definition: 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 definition: Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if mutations occur in other types of cells, they are not inherited. Certain mutations may lead to cancer or other diseases.
Mutation definition: Permanent, transmissible changes in the genetic material of an organism. Mutations can range from a single base change to the loss of a significant portion of a chromosome. These occur when DNA is not repaired prior to replication. Mutations in germ cells can be inherited. However, in somatic cells, they are not inherited. Somatic mutations can arise via exposure to chemical mutagens or ionizing radiation. These fixed changes in the genetic material can, in some cases, lead to cancer or other diseases.
suppressor mutation definition: a second mutation occurring at a site different from the first mutation and able to mask or suppress the phenotypic expression of the first mutation; include (1) intragenic suppressor mutation within the same gene, and (2) intergenic suppressor mutation by a suppressor gene.
Frameshift Mutation definition: 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.
frameshift mutation definition: insertions or deletions of genetic material that lead to a shift in the translation of the reading frame; the mutation usually leads to nonfunctional proteins.
Frameshift Mutation Abnormality definition: Insertion or deletion of one, two or four nucleotides that alters the correct reading frame of an amino acid-coding DNA sequence, resulting in an amino acid sequence that is changed or truncated. Frame shift mutations typically result in a mutated protein product that is inactive. This type of mutation abnormality can be either inherited or somatic.
Frameshift Mutation definition: A type of mutation in which one or more paired nucleotides are inserted or deleted in the coding region of a gene, which causes the triplet codons to be read in the wrong frame; the resulting polypeptide has a garbled amino acid sequence from the mutated codon on. (BioTech Life Science Dictionary)
Mutagenesis, Site-Directed definition: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
site directed mutagenesis definition: mutagenesis where the mutation is caused by in vitro induction directed at a specific site in a DNA molecule; the most common method involves use of a chemically synthesized oligonucleotide mutant which can hybridize with the DNA target molecule; the resulting mismatch-carrying DNA duplex may then be transfected into a bacterial cell line and the mutant strands recovered.
Targeted Mutation definition: A mutation created in a gene at a specific location.
Site-Directed Mutagenesis definition: Any of several methods used to create alterations in a gene at a specific location.
Point Mutation definition: 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.
point mutation definition: mutation caused by the substitution of one nucleotide for another; the DNA molecule changes a single base pair.
Point Mutation definition: A mutation that causes the replacement of a single base pair with another pair.
Germ-Line Mutation definition: 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.
hereditary mutation definition: A gene change in the body's reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; germline mutations are passed on from parents to offspring.
Germline Mutation definition: 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.
Nonsense Mutation definition: A mutation in which a base change creates a stop codon, resulting in premature termination of a polypeptide product.
Mutation, Nonsense definition: A mutation that converts a sense codon (CODON) into a stop codon (CODON, TERMINATOR) or an unassigned codon and leads to the formation of truncated proteins.
somatic mutations definition: Alterations in DNA that occur after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
Somatic Mutation Abnormality definition: A mutation in a somatic cell. All eukaryotic cells, with the exception of germ cells (egg and sperm), are classified as somatic cells. A somatic mutation may affect the phenotype of the cell in which it occurs. However, the mutation will not be transmitted to offspring. These alterations are postulated to contribute to the development of cancer and other diseases.
Somatic Mutation definition: A mutation that occurs in the somatic tissues of an organism and that will not, therefore, be heritable, since it is not present in the germ line. Somatic mutations may contribute to a disease state.
gene mutation definition: 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.
Gene Mutation definition: A gene mutation is an alteration in the nucleotide sequence of a gene, involving a single or multiple nucleotide substitution, deletion, insertion, or rearrangement that is perpetuated in subsequent divisions of the cell in which it occurs.
Mutation, Missense definition: 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)
Missense Mutation definition: A mutation in which a base change results in substitution of one amino acid for another. This change may result in alteration of the protein's activity or stability.
Transition Mutation definition: A point mutation involving substitution of one base-pair for another, i.e., replacement of one purine for another purine or of one pyrimidine for another pyrimidine without change in the purine-pyrimidine orientation.
Transversion Mutation definition: A point mutation involving base substitution in which the orientation of purine and pyrimidine is reversed, in contradistinction to transition mutation.
Mutation Analysis definition: A procedure to test for the presence of a specific mutation or a set of mutations as opposed to complete gene sequencing or mutation scanning, which detect most, if not all, mutations in the tested region. (From GeneTests).
BRCA1 Mutation definition: A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA1 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA1 gene. Approximately 75% of these alterations result in a truncated form of the breast cancer type 1 susceptibility protein. Mutations in the BRCA1 gene predispose individuals to breast and ovarian cancers.
BRCA2 Mutation definition: A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer.
Deletion Mutation definition: A loss of any genetic material on a chromosome, ranging from loss of a single nucleotide, to loss of part or all of a gene, to loss of a visible portion of the chromosome involving multiple genes. Deletions often disrupt gene or protein function and cell function as a result.
Induced Mutation definition: A mutation triggered by outside influences (e.g., radiation, chemicals or other means) as opposed to those created by the inherent infidelity of DNA polymerase.
Insertion Mutation definition: A mutation consisting of the addition of extra nucleotides into a chromosome.
Insertion Mutation definition: Mutations that result in the insertion of one or more nucleotides into a wild type DNA sequence. Can result in a frame shift in the coding sequence of a gene.
Mutation Detection definition: The detection by physical, chemical, or biological means of an altered DNA sequence. Includes SSCP, DNA sequencing, hybridization, and reporter gene expression.
Mutation Fixation definition: In avoiding recognition and removal by the mismatch repair system, a Mutation Fixation involves stabilization of a DNA sequence alteration in both strands so that the sequence change is propagated to progeny cells.
Mutation Spectra definition: The range of mutations that have occurred to a gene, or at a specific locus.
Silent Mutation definition: A mutation that alters the DNA sequence, but encodes the same amino acid.
Nucleotide Transition Abnormality definition: A point mutation that involves the substitution of a pyrimidine base for a different pyrimidine base or substitution of a purine base for a different purine base. Nucleotide transitions do not change the purine-pyrimidine orientation of a DNA sequence. A nucleotide transition abnormality may be heritable or occur somatically.
Nucleotide Transversion Abnormality definition: A point mutation that involves the substitution of a pyrimidine base for a purine base or substitution of a purine base for a pyrimidine base. Nucleotide transversions change the purine-pyrimidine orientation of a DNA sequence. A nucleotide transversion abnormality may be heritable or occur somatically.
Mutation Abnormality definition: A general term referring to single or multiple alterations in the genetic material of an organism that ranges from a single base change in a gene to the loss or addition of complete chromosomes. A mutation abnormality may be heritable or occur somatically.
Insertion Mutation Abnormality definition: Insertion of one or more nucleotides into a DNA sequence. An insertion mutation abnormality can result in a frame shift abnormality if the length of the inserted nucleotide strand is not divisible by three. This type of mutation abnormality can be either heritable or occur somatically.
Germline Mutation Abnormality definition: A mutation in the genomic DNA of reproductive cells (egg or sperm) that is retained during meiosis, mitosis, and cell differentiation. Ultimately, the mutation is present in every cell in the body of the offspring.
Inversion Mutation Abnormality definition: A structural change in genomic DNA where the 5' to 3' order of a nucleotide sequence is completely reversed to the 3' to 5' order relative to its adjacent sequences. This inversion is termed either pericentric, if it includes the centromere of a chromosome, or pancentric, if it excludes the centromere. An inversion mutation abnormality may be heritable or occur somatically.
Missense Mutation Abnormality definition: A point mutation in a coding DNA sequence that causes a base change which results in an amino acid change in the protein product. This alteration may affect the stability and/or activity of the protein. A missense mutation abnormality may be heritable or occur spontaneously.
Adenosine to Cytosine Transversion Abnormality definition: A point mutation involving the substitution of Cytosine (a pyrimidine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.
Adenosine to Guanosine Transition Abnormality definition: A point mutation involving the substitution of Guanosine (a purine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.
Adenosine to Thymidine Transversion Abnormality definition: A point mutation involving the substitution of Thymidine (a pyrimidine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.
Inframe Mutation definition: Any mutation that does not cause a change in reading frame.
Intronic Mutation definition: A mutation within an intron at a distance greater than 10 bases from the exon junction.
3' Flank Mutation definition: A mutation in the sequences downstream from a coding region.
3' Untranslated Region Mutation definition: A mutation within the sequence region at the 3' end of a messenger RNA (following the stop codon) that is not translated into protein and may contain transcription and translation regulating sequences.
5' Flank Mutation definition: A mutation in the sequences upstream from a coding region.
5' Untranslated Region Mutation definition: A mutation within the sequence region at the 5' end of a messenger RNA (preceding the initiation codon) that is not translated into protein and may contain the ribosome binding site and other transcription and translation regulating sequences.
INDEL Mutation definition: 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.
 
 
deGerman
Mutation definition: [1] Biologie / Genetik: eine Veränderung des Erbgutes eines Organismus durch Veränderung der Abfolge der Nukleinbasen oder durch Veränderung der Chromosomenzahl, die weder auf Rekombination noch auf Segregation beruht.
Änderung definition: [1] Wechsel eines Zustandes; etwas wird anders; etwas verändert sich
Mutation definition: Mutation, mutation génétique
 
frFrench
mutation definition: Remplacement d’une personne par une autre.
mutation definition: Changement.
mutation definition: Modification spontanée ou provoquée, le plus souvent héréditaire, du génome d'une cellule, d'un tissu ou d'un organisme.
mutation definition: Résultat de cette modification.
mutation definition: Changement qui, dans certaines langues comme les langues celtiques et le finnois, affecte certaines consonnes.