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Glossary Term
Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer.
Technology
A physical mapping approach that uses fluorescent tags to detect hybridization of probes within metaphase chromosomes or less condensed somatic interphase chromatin. This technique can be used for identification of chromosomal abnormalities and for gene mapping.
Artículo
Research record from Hum Pathol, 2026-04-27. PMID 42055234.
Artículo
Research record from Br J Biomed Sci, 2026-04-22. PMID 42099507.
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)
Artículo
Research record from J Med Genet, 2026-10-12. PMID 42864007.
Glossary Term
The chromosomal morphology and number in somatic cells of an individual.
Pruebas
A TP53 genetic test uses a sample of your blood, bone marrow, or tissue from a tumor to look for changes in the tumor protein 53 gene, or TP53 for short. Changes in your genes are also called gene variants or mutations.
