| GPE | guinea pig embryo; granulocyte colony-stimulating factor promoter element |
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| GPEBP | granulocyte colony-stimulating factor promoter element binding protein |
| TEF | Tracheo-Esophageal Fistula ? Tx 1. Infant Warmer ... |
| BD | barbital-dependent; barbiturate dependence; base deficit; base of prism down; basophilic degeneratio... |
| CAGE | cut down, annoyed by criticism, guilty about drinking, eye-opener drinks (a test for alcoholism) |
| down-regulation | <physiology> Development of a refractory or tolerant state consequent upon repeated administration of a pharmacologically or physiologically active substance. It is the process that decreases ligand and receptor interactions or reduces the responsiveness of a cell to a stimulus following first exposure. This is often accompanied by an initial decrease in affinity of receptors for the agent and a subsequent reduction in the number of available receptors expressed on the surface which can result from internalisation of the ligand:receptor complex or from decreased expression of the receptor. Classically the concept referred to hormone receptors but contemporary usage includes other cell surface receptors. (03 Jul 1999) |
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| Down's syndrome | <genetics, syndrome> A congenital disorder in which a person is born with three copies of chromosome 21 (trisomy 21). Clinical features include moderate to severe mental retardation, slanting eyes, a broad short skull, broad hands and short fingers. Other congenital abnormalities include heart defects, oesophageal atresia and an increased incidence of acute lymphocytic leukaemia. Trisomy 21 can be detected in the first few months of pregnancy by amniocentesis. Risk factors include prior child with Down's syndrome and mothers who become pregnant after age 40. This disorder was formerly known as mongolism. Incidence: 1 in 1000 births. (09 Oct 1997) |
| down syndrome | <radiology> Trisomy 21, mongolism, atlantoaxial subluxation, Wormian bones, absent/small paranasal sinuses, endocardial cushion (AV canal) defects, aberrant right subclavian artery, 2 ossification centres for manubrium (90%), 11 or 13 ribs, duodenal atresia / stenosis, tracheo-oesophageal fistula, Hirschsprung disease (12 Dec 1998) |
| turn down ratio | The lowest load at which a boiler will operate efficiently as compared to the boiler's maximum design load. (05 Dec 1998) |
| let-down reflex | <neurology, paediatrics> An involuntary reflex during breast feeding which causes the milk to flow freely. See: milk-ejection reflex (22 Sep 2002) |
| acquired mutation | A change in a gene or chromosome that occurs in a single cell after the conception of the individual. That change is then passed along to all cells descended from that cell. Acquired mutations are involved in the development of cancer. (12 Dec 1998) |
| addition-deletion mutation | <molecular biology> A type of mutation that results from insertion or deletion of a single nucleotide into, or from, an open reading frame in the normal DNA sequence. Normally, the genetic code is read in the wrong frame, three nucleotides at a time, and the entire sequence downstream of the mutation, is translated into a polypeptide with a garbled amino acid sequence from the mutated codon onwards. These mutations may be induced by certain types of mutagens or may occur spontaneously and usually result in the generation, downstream, of nonsense, chain termination codons. Synonym: addition mutation, addition-deletion mutation, deletion mutation, reading-frameshift mutation. (21 Jun 2000) |
| addition mutation | <molecular biology> A type of mutation that results from insertion or deletion of a single nucleotide into, or from, an open reading frame in the normal DNA sequence. Normally, the genetic code is read in the wrong frame, three nucleotides at a time, and the entire sequence downstream of the mutation, is translated into a polypeptide with a garbled amino acid sequence from the mutated codon onwards. These mutations may be induced by certain types of mutagens or may occur spontaneously and usually result in the generation, downstream, of nonsense, chain termination codons. Synonym: addition mutation, addition-deletion mutation, deletion mutation, reading-frameshift mutation. (21 Jun 2000) |
| amber mutation | <molecular biology> A mutation from a codon which codes for an amino acid into the amber codon UAG, which normally signals that the translation of mRNA into an amino acid chain should stop. The mutation causes the amino acid chain to stop forming before it is actually completed. (09 Oct 1997) |
| back mutation | <molecular biology> A mutation that causes a mutant gene to revert to its original wild-type base sequence. Compare: forward mutation. (09 Oct 1997) |
| reading-frameshift mutation | <molecular biology> A type of mutation that results from insertion or deletion of a single nucleotide into, or from, an open reading frame in the normal DNA sequence. Normally, the genetic code is read in the wrong frame, three nucleotides at a time, and the entire sequence downstream of the mutation, is translated into a polypeptide with a garbled amino acid sequence from the mutated codon onwards. These mutations may be induced by certain types of mutagens or may occur spontaneously and usually result in the generation, downstream, of nonsense, chain termination codons. Synonym: addition mutation, addition-deletion mutation, deletion mutation, reading-frameshift mutation. (21 Jun 2000) |
| germinal mutation | A mutation in the germ cells (the cells which will undergo meiosis to form the gametes). Such mutations are therefore passed on to offspring. (09 Oct 1997) |
| germ-line mutation | 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. (12 Dec 1998) |
| reverse mutation | <molecular biology> A mutation that causes a mutant gene to revert to its original wild-type base sequence. Compare: forward mutation. (09 Oct 1997) |
| chromosomal mutation | Can refer to any of a number of DNA mutations which results in a change in the protein encoded by the mutated gene, such as point mutations, insertion or deletion mutations (frameshift mutations), or nonsense mutations. More often this refers to mutations involving chromosomes, such as the inversion of part of one chromosome such that the inverted part no longer matches with its homologous pair, a translocation of one part of a chromosome to a different chromosome, deletions of parts of chromosomes, or accidents which happen during the division of the nucleus like the unequal portioning of chromosomes between the daughter cells. (09 Oct 1997) |