Genetic markerA genetic marker is a gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or species. It can be described as a variation (which may arise due to mutation or alteration in the genomic loci) that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (single nucleotide polymorphism, SNP), or a long one, like minisatellites. For many years, gene mapping was limited to identifying organisms by traditional phenotypes markers.
Polymorphism (biology)In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species. To be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population (one with random mating). Put simply, polymorphism is when there are two or more possibilities of a trait on a gene. For example, there is more than one possible trait in terms of a jaguar's skin colouring; they can be light morph or dark morph.
Transcription factorIn molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism.
MutantIn biology, and especially in genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is generally an alteration of the DNA sequence of the genome or chromosome of an organism. It is a characteristic that would not be observed naturally in a specimen. The term mutant is also applied to a virus with an alteration in its nucleotide sequence whose genome is in the nuclear genome. The natural occurrence of genetic mutations is integral to the process of evolution.
Fusion proteinFusion proteins or chimeric (kī-ˈmir-ik) proteins (literally, made of parts from different sources) are proteins created through the joining of two or more genes that originally coded for separate proteins. Translation of this fusion gene results in a single or multiple polypeptides with functional properties derived from each of the original proteins. Recombinant fusion proteins are created artificially by recombinant DNA technology for use in biological research or therapeutics.
DiseaseA disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies, and autoimmune disorders.
Rare diseaseA rare disease is a disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear.
Congenital heart defectA congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired.
Recent African origin of modern humansIn paleoanthropology, the recent African origin of modern humans is the dominant model of the geographic origin and early migration of anatomically modern humans (Homo sapiens). It follows the early expansions of hominins out of Africa, accomplished by Homo erectus and then Homo neanderthalensis. The model proposes a "single origin" of Homo sapiens in the taxonomic sense, precluding parallel evolution in other regions of traits considered anatomically modern, but not precluding multiple admixture between H.
Finite setIn mathematics, particularly set theory, a finite set is a set that has a finite number of elements. Informally, a finite set is a set which one could in principle count and finish counting. For example, is a finite set with five elements. The number of elements of a finite set is a natural number (possibly zero) and is called the cardinality (or the cardinal number) of the set. A set that is not a finite set is called an infinite set.
Set theorySet theory is the branch of mathematical logic that studies sets, which can be informally described as collections of objects. Although objects of any kind can be collected into a set, set theory, as a branch of mathematics, is mostly concerned with those that are relevant to mathematics as a whole. The modern study of set theory was initiated by the German mathematicians Richard Dedekind and Georg Cantor in the 1870s. In particular, Georg Cantor is commonly considered the founder of set theory.
