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Concordance (genetics)
In genetics, concordance is the probability that a pair of individuals will both have a certain characteristic (phenotypic trait) given that one of the pair has the characteristic. Concordance can be measured with concordance rates, reflecting the odds of one person having the trait if the other does. Important clinical examples include the chance of offspring having a certain disease if the mother has it, if the father has it, or if both parents have it. Concordance among siblings is similarly of interest: what are the odds of a subsequent offspring having the disease if an older child does? In research, concordance is often discussed in the context of both members of a pair of twins. Twins are concordant when both have or both lack a given trait. The ideal example of concordance is that of identical twins, because the genome is the same, an equivalence that helps in differentiating causation, regarding genetic effects versus epigenetic and environmental effects (nature versus ...
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Genus 1 Concordance
Genus ( plural genera ) is a taxonomic rank used in the biological classification of extant taxon, living and fossil organisms as well as Virus classification#ICTV classification, viruses. In the hierarchy of biological classification, genus comes above species and below family (taxonomy), family. In binomial nomenclature, the genus name forms the first part of the binomial species name for each species within the genus. :E.g. ''Panthera leo'' (lion) and ''Panthera onca'' (jaguar) are two species within the genus ''Panthera''. ''Panthera'' is a genus within the family Felidae. The composition of a genus is determined by taxonomy (biology), taxonomists. The standards for genus classification are not strictly codified, so different authorities often produce different classifications for genera. There are some general practices used, however, including the idea that a newly defined genus should fulfill these three criteria to be descriptively useful: # monophyly – all descendants ...
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Homosexuality
Homosexuality is romantic attraction, sexual attraction, or sexual behavior between members of the same sex or gender. As a sexual orientation, homosexuality is "an enduring pattern of emotional, romantic, and/or sexual attractions" to people of the same sex. It "also refers to a person's sense of identity based on those attractions, related behaviors, and membership in a community of others who share those attractions." Along with bisexuality and heterosexuality, homosexuality is one of the three main categories of sexual orientation within the heterosexual–homosexual continuum. Scientists do not yet know the exact cause of sexual orientation, but they theorize that it is caused by a complex interplay of genetic, hormonal, and environmental influences and do not view it as a choice. Although no single theory on the cause of sexual orientation has yet gained widespread support, scientists favor biologically based theories. There is considerably more evidence supportin ...
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Michigan State University Twin Registry
{{primary sources, date=March 2009 The Michigan State University Twin Registry (or MSUTR) is a registry of twins produced by researchers at Michigan State University. The MSUTR has a lifespan perspective focused on understanding risk factors for internalizing and externalizing disorders. Projects The principal investigators of the MSUTR are Kelly L. Klump, Ph.D. and S. Alexandra Burt, Ph.D. The MSUTR involves several independent but related projects, each of which is described below: *Adolescent Twin Study *Adult Twin Study of Personality and Behavioral Adjustment *Michigan Twins Project *Hormones and Behavior Across the Menstrual Cycle *Twin Study of Emotional and Behavioral Development – Child (TBED-C) Adolescent Twin Study The MSUTR Adolescent Twin Study of Behavioral Adjustment and Development is a study of 206 same-sex male, 312 same-sex female, and 120 opposite-sex twins between the ages of 10 and 16 years old. The primary purpose of the study was to investigate g ...
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Fraternal Twins
Twins are two offspring produced by the same pregnancy.MedicineNet > Definition of TwinLast Editorial Review: 19 June 2000 Twins can be either ''monozygotic'' ('identical'), meaning that they develop from one zygote, which splits and forms two embryos, or ''dizygotic'' ('non-identical' or 'fraternal'), meaning that each twin develops from a separate egg and each egg is fertilized by its own sperm cell. Since identical twins develop from one zygote, they will share the same sex, while fraternal twins may or may not. In rare cases twins can have the same mother and different fathers ( heteropaternal superfecundation). In contrast, a fetus that develops alone in the womb (the much more common case, in humans) is called a ''singleton'', and the general term for one offspring of a multiple birth is a ''multiple''. Unrelated look-alikes whose resemblance parallels that of twins are referred to as doppelgängers. Statistics The human twin birth rate in the United States rose 76% ...
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Assay
An assay is an investigative (analytic) procedure in laboratory medicine, mining, pharmacology, environmental biology and molecular biology for qualitatively assessing or quantitatively measuring the presence, amount, or functional activity of a target entity. The measured entity is often called the analyte, the measurand, or the target of the assay. The analyte can be a drug, biochemical substance, chemical element or compound, or cell in an organism or organic sample. An assay usually aims to measure an analyte's intensive property and express it in the relevant measurement unit (e.g. molarity, density, functional activity in enzyme international units, degree of effect in comparison to a standard, etc.). If the assay involves exogenous reactants (the reagents), then their quantities are kept fixed (or in excess) so that the quantity and quality of the target are the only limiting factors. The difference in the assay outcome is used to deduce the unknown quality or qu ...
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Somatic Mutation
A somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that occurs in a cell other than a gamete, germ cell, or gametocyte. Unlike germline mutations, which can be passed on to the descendants of an organism, somatic mutations are not usually transmitted to descendants. This distinction is blurred in plants, which lack a dedicated germline, and in those animals that can reproduce asexually through mechanisms such as budding, as in members of the cnidarian genus ''Hydra''. While somatic mutations are not passed down to an organism's offspring, somatic mutations will be present in all descendants of a cell within the same organism. Many cancers are the result of accumulated somatic mutations. Fraction of cells affected The term somatic generally refers to the cells of the body, in contrast to the reproductive (germline) cells, which give rise to the egg or sperm. For example, in ...
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Single Nucleotide Polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with incre ...
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Genotyping
Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence. It reveals the alleles an individual has inherited from their parents. Traditionally genotyping is the use of DNA sequences to define biological populations by use of molecular tools. It does not usually involve defining the genes of an individual. Techniques Current methods of genotyping include restriction fragment length polymorphism identification (RFLPI) of genomic DNA, random amplified polymorphic detection (RAPD) of genomic DNA, amplified fragment length polymorphism detection (AFLPD), polymerase chain reaction (PCR), DNA sequencing, allele specific oligonucleotide (ASO) probes, and hybridization to DNA microarrays or beads. Genotyping is important in research of genes and gene variants associated with disease. Due to curren ...
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Epigenetics
In biology, epigenetics is the study of stable phenotypic changes (known as ''marks'') that do not involve alterations in the DNA sequence. The Greek prefix '' epi-'' ( "over, outside of, around") in ''epigenetics'' implies features that are "on top of" or "in addition to" the traditional genetic basis for inheritance. Epigenetics most often involves changes that affect the regulation of gene expression, but the term can also be used to describe any heritable phenotypic change. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors, or be part of normal development. The term also refers to the mechanism of changes: functionally relevant alterations to the genome that do not involve mutation of the nucleotide sequence. Examples of mechanisms that produce such changes are DNA methylation and histone modification, each of which alters how genes are expressed without altering the underlying DNA sequence. Gene express ...
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Polygenic
A polygene is a member of a group of non- epistatic genes that interact additively to influence a phenotypic trait, thus contributing to multiple-gene inheritance (polygenic inheritance, multigenic inheritance, quantitative inheritance), a type of non-Mendelian inheritance, as opposed to single-gene inheritance, which is the core notion of Mendelian inheritance. The term "monozygous" is usually used to refer to a hypothetical gene as it is often difficult to distinguish the effect of an individual gene from the effects of other genes and the environment on a particular phenotype. Advances in statistical methodology and high throughput sequencing are, however, allowing researchers to locate candidate genes for the trait. In the case that such a gene is identified, it is referred to as a quantitative trait locus (QTL). These genes are generally pleiotropic as well. The genes that contribute to type 2 diabetes are thought to be mostly polygenes. In July 2016, scientists reported ide ...
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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as ...
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Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms among all individuals with such mutation. For example, if a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not. A condition, most commonly inherited in an autosomal dominant manner, is said to show complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation. A condition which shows complete penetrance is neurofibromatosis type 1 – every person who has a mutation in the gene will show symptoms of the condition. The penetrance is 100%. Common examples used to show degrees of penetrance are ...
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