Glossary Term
Point Mutation
A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.
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Glossary Term
A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.
Technology
A procedure used to demonstrate nucleotide sequence variations that occur in the same region of DNA between individuals within a species, or between alleles in an individual to detect mutations in various genes, such as oncogenes, tumor suppressor genes, or genes responsible for genetic diseases. The method detects different conformations adopted by partially denatured DNA fragments resulting from their specific nucleotide sequences under denaturing conditions. Denatured single-stranded DNA fragments are allowed to partially renature without formation of double-stranded DNA. The particular conformations adopted by each of the renatured fragments depend on each of their specific nucleotide sequences. The fragments are run on polyacrylamide gels to detect subtle changes in migration due to their particular secondary structures. Resulting fragment band in the gel will misalign if any point mutations are present to alter the conformation.
Glossary Term
Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis.
Indicadores
Immunoglobulin Light Chain Kappa is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains. Ig kappa light chains contain a variable and a constant region. Kappa light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. Diversity in the kappa light chain V region arises during differentiation of an activated (kappa-type) antibody-producing B-cell from variable recombination of kappa V genes with kappa J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM and NCI)
Indicadores
Immunoglobulin Light Chain Lambda is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains but Ig lambda light chains contain a variable and a constant region. Lambda light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. During differentiation of an activated (lambda-type) antibody-producing B-cell, diversity in the lambda light chain V region arises from variable recombination of lambda V genes with lambda J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM 147220 and NCI)
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected.
Glossary Term
A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine.
Company
established in 1974. We develop, manufacture, and distribute reliable and fast CE marked diagnostic tests for point of care. Our aim is to aid global
Company
We specialise in the development, manufacturing and distribution of a range of Medical Diagnostic and Point of Care Tests for a global market.
Company
EKF develops and manufactures point-of-care medical devices and tests (in-vitro diagnostics (IVD)) that can be used at or near the patient’s location. Designed to provide