Glossary Term
Germline Variation
Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.
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Glossary Term
Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.
Glossary Term
The covalent chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, by glycosyl transferases.
Glossary Term
A way of denoting the collective genotype of a number of closely linked loci on a chromosome.
Glossary Term
Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin.
Glossary Term
Having two different allelic forms of a gene, one inherited from each parent, on each of the two homologous chromosomes.
Glossary Term
Major protein component of chromatin. Highly conserved basic proteins, originally classified into classes based on the relative amounts of arginine and lysine in each protein. The various classes are now termed H1, H2A, H2B, H3, and H4. In chromatin, they are found in an octamer, containing two each of H2A, H2B, H3, and H4, complexed with DNA in nucleosomes. The histones in the octamer complex are also known as the core histones. The H1 class of histones, termed the linker histones, is loosely associated with the nucleosome.
Glossary Term
The process of exchange of genetic material between autonomous replicons, which depends on regions of extensive sequence homology between the participating DNA strands. This process involves double-strand breakage of one participant, resection of the break, and strand invasion, followed by formation, displacement and resolution of the Holliday junction. This process is involved in repairing broken DNA and creating combinations of genes that may be unique from the parent duplexes. Disruptions in this process can result in inviability, premature aging and predisposition to cancers and degenerative diseases.
Glossary Term
Having two identical allelic forms of a gene, one inherited from each parent, on each of the two homologous chromosomes.
Glossary Term
The X or Y chromosome in human beings that determines the sex of an individual. Females have two X chromosomes in diploid cells; males have an X and a Y chromosome. The sex chromosomes comprise the 23rd chromosome pair in a human karyotype.
Glossary Term
A reagent, reagent product, calibrator, control material, kit, instrument, apparatus, piece of equipment, software or system, whether used alone or in combination, intended by the manufacturer to be used in vitro for the examination of specimens, including blood and tissue donations, derived from the human body, solely or principally for the purpose of providing information to aid towards a diagnosis.
Glossary Term
The relative frequency of occurrence of something.
Glossary Term
A mutation class that includes insertion mutations, deletion mutations and mutation events where both an insertion and a deletion has occurred.