| PHAVER | pterygia-heart defects-autosomal recessive inheritance-vertebral defects-ear anomalies-radial defect... |
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| rec | fresh [Lat. recens]; recessive; recombinant chromosome; record; recovery; recurrence, recurrent |
| RXLI | recessive X-linked ichthyosis |
| XLR | X-linked recessive |
| XLS | X-linked recessive lymphoproliferative syndrome |
| lethal factor | A disorder that prevents effective reproduction by those affected; e.g., Klinefelter syndrome. (05 Mar 2000) |
|---|---|
| lethal midline granuloma | Destruction of the nasal septum, hard palate, lateral nasal walls, paranasal sinuses, skin of the face, orbit and nasopharynx by an inflammatory infiltrate with atypical lymphocytic and histiocytic cells; presumably a form of lymphoma in most cases. An obsolete term for polymorphic reticulosis. Synonym: granuloma gangrenescens, malignant granuloma, midline malignant reticulosis granuloma. (05 Mar 2000) |
| lethal mutation | <genetics, molecular biology> Mutation that eventually results in the death of an organism carrying the mutation. (18 Nov 1997) |
| allelic gene | See: allele, dominance of traits. (05 Mar 2000) |
| antibiotic resistance gene | Genes in a microorganism which confer resistance to antibiotics, for example by coding for enzymes which destroy it, by coding for surface proteins which prevent it from entering the microorganism, or by being a mutant form of the antibiotic's target so that it can ignore it. (09 Oct 1997) |
| autosomal gene | A gene located on any chromosome other than the sex chromosomes (X or Y). (05 Mar 2000) |
| bicoid gene | A group of genes which are important to the proper development of the head and thorax in the embryo of the fruit fly Drosophila melanogaster. (09 Oct 1997) |
| BRCA1 breast cancer susceptibility gene | This mutated (changed) version of the BRCA1 gene makes a person susceptible to developing breast cancer. (12 Dec 1998) |
| calcitonin gene-related peptide | <protein> A second product transcribed from the calcitonin gene. Calcitonin gene related peptide is found in a number of tissues including nervous tissue. It is a vasodilator that may participate in the cutaneous triple response. It is a neuropeptide of 37 amino acids with structural homology to salmon calcitonin. Co-localises with substance P in neurons. It occurs as a result of alternative processing of mRNA from the calcitonin gene. The neuropeptide is widely distributed in neural tissue of the brain, gut, perivascular nerves, and other tissue. The peptide produces multiple biological effects and has both circulatory and neurotransmitter modes of action. In particular, it is a potent endogenous vasodilator. Intracerebral administration leads to a rise in noradrenergic sympathetic outflow, a rise in blood pressure and a fall in gastric secretion. Acronym: CGRP (05 May 2002) |
| cancer susceptibility gene | tumour suppressor gene |
| rab gene | 1. <molecular biology> One of the three main groups of ras like genes specifying small GTP-binding proteins (the others are ras and rho). Rab proteins are involved in vesicular traffic and seem to control translocation from donor to acceptor membranes. 2. <cell biology> Gene family in plants responsive to abscisic acid: encode proteins of 15-17 kD. (18 Nov 1997) |
| pair rule gene | <molecular biology> A segmentation gene, expressed sequentially between gap genes and segment polarity genes. In development of Drosophila, a set of about 8 genes that are expressed only in alternate segments (odd or even) of the developing embryo. Loss of function mutants thus lack alternate segments. Examples: even skipped (eve), fushi tarazu (ftz), hairy. (18 Nov 1997) |
| variable gene | <molecular biology> Those regions in the amino acid sequence of both the heavy and the light chains of immunoglobulins where there is considerable sequence variability from one immunoglobulin to other of the same class, in contrast to constant sequence (C) regions. The V regions are associated with the antigen binding areas. They contain hypervariable regions of particularly high sequence diversity. (18 Nov 1997) |
| gap gene | <molecular biology> Segmentation genes involved in specifying relatively coarse subdivisions of the embryo. They are expressed sequentially in development between egg polarity genes and pair rule genes. In Drosophila, there are at least three such genes, for example Kruppel. (18 Nov 1997) |
| gene | <cell biology, molecular biology> Originally defined as the physical unit of heredity, it is probably best defined as the unit of inheritance that occupies a specific locus on a chromosome, the existence of which can be confirmed by the occurrence of different allelic forms. Genes are formed from DNA, carried on the chromosomes and are responsible for the inherited characteristics that distinguish one individual from another. Each human individual has an estimated 100,000 separate genes. Given the occurrence of split genes, it might be redefined as the set of DNA sequences (exons) that are required to produce a single polypeptide. (09 Oct 1997) |