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Glossary Term
Any hybrid gene formed from two previously separate genes. Such fusions occur as a result of translocation, intersititial deletion or chromosomal inversion, and often result in gene products with functions different from the two fusion partners. Gene fusions are associated frequently with hematological cancers, sarcomas and prostate cancer.
Glossary Term
Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.
Glossary Term
The complete genomic content of an organism, and possibly the full DNA sequence of that organism. It is contained in a set of chromosomes in eukaryotes, a single chromosome in bacteria, or a DNA or RNA molecule in viruses.
Glossary Term
Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.
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
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 weighted concentration of ions in solutions.
Glossary Term
An isomer of propyl alcohol with antibacterial properties. Although the exact mechanism of isopropanol's disinfecting action is not known, it might kill cells by denaturing cell proteins and DNA, interfering with cellular metabolism, and dissolving cell lipo-protein membranes. Isopropanol is used in soaps and lotions as an antiseptic.
Glossary Term
The chromosomal morphology and number in somatic cells of an individual.
Glossary Term
The lowest concentration of an analyte that can be quantified with acceptable accuracy and precision under stated conditions — distinct from, and higher than, the limit of detection.
