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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)
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.
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.
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.
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.
Mixed Nucleotide Abnormalities definition: Point mutations at various locations in a DNA sequence from eukaryotic or prokaryotic organisms in which a nucleotide substitution, deletion or insertion has occurred at each affected site. These abnormalities can be either heritable or occur somatically.
Multiple Transition Abnormalities definition: Multiple point mutations in a DNA sequence from eukaryotic or prokaryotic organisms in which each mutation occurs by substitution of a purine base for a different purine base or a pyrimidine base for another pyrimidine base. These abnormalities can be either heritable or occur somatically.
Multiple Transversion Abnormalities definition: Multiple point mutations in a DNA sequence from eukaryotic or prokaryotic organisms in which each mutation occurs by substitution of a purine base for a pyrimidine base or vice versa. These abnormalities can be either heritable or occur somatically.
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.