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Genetic Studies
Genetic analysis is the overall process of studying and researching in fields of science that involve genetics and molecular biology. There are a number of applications that are developed from this research, and these are also considered parts of the process. The base system of analysis revolves around general genetics. Basic studies include identification of genes and inherited disorders. This research has been conducted for centuries on both a large-scale physical observation basis and on a more microscopic scale. Genetic analysis can be used generally to describe methods both used in and resulting from the sciences of genetics and molecular biology, or to applications resulting from this research. Genetic analysis may be done to identify genetic/inherited disorders and also to make a differential diagnosis in certain somatic diseases such as cancer. Genetic analyses of cancer include detection of mutations, fusion genes, and DNA copy number changes. History Much of the ...
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Research
Research is creative and systematic work undertaken to increase the stock of knowledge. It involves the collection, organization, and analysis of evidence to increase understanding of a topic, characterized by a particular attentiveness to controlling sources of bias and error. These activities are characterized by accounting and controlling for biases. A research project may be an expansion of past work in the field. To test the validity of instruments, procedures, or experiments, research may replicate elements of prior projects or the project as a whole. The primary purposes of basic research (as opposed to applied research) are documentation, discovery, interpretation, and the research and development (R&D) of methods and systems for the advancement of human knowledge. Approaches to research depend on epistemologies, which vary considerably both within and between humanities and sciences. There are several forms of research: scientific, humanities, artistic, eco ...
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DNA Microarrays
A DNA microarray (also commonly known as a DNA chip or biochip) is a collection of microscopic DNA spots attached to a solid surface. Scientists use DNA microarrays to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome. Each DNA spot contains picomoles (10−12 moles) of a specific DNA sequence, known as '' probes'' (or ''reporters'' or '' oligos''). These can be a short section of a gene or other DNA element that are used to hybridize a cDNA or cRNA (also called anti-sense RNA) sample (called ''target'') under high-stringency conditions. Probe-target hybridization is usually detected and quantified by detection of fluorophore-, silver-, or chemiluminescence-labeled targets to determine relative abundance of nucleic acid sequences in the target. The original nucleic acid arrays were macro arrays approximately 9 cm × 12 cm and the first computerized image based analysis was published in 1981. It was inv ...
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Karyotype IsochromosomeX
A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography in the metaphase of the cell cycle, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as ...
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Cytogenetics
Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include Karyotype, karyotyping, analysis of G banding, G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as Fluorescence in situ hybridization, fluorescence ''in situ'' hybridization (FISH) and comparative genomic hybridization (CGH). History Beginnings Chromosomes were first observed in plant cells by Carl Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, Heinrich Wilhelm Gottfried von Waldeyer-Hartz, von Waldeyer in 1888. The next stage took place after the development of genetics in the early 20th century, when it was appreciated ...
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Electrophoresis
Electrophoresis is the motion of charged dispersed particles or dissolved charged molecules relative to a fluid under the influence of a spatially uniform electric field. As a rule, these are zwitterions with a positive or negative net charge. Electrophoresis is used in laboratories to separate macromolecules based on their charges. The technique normally applies a negative charge called cathode so anionic protein molecules move towards a positive charge called anode. Therefore, electrophoresis of positively charged particles or molecules (cations) is sometimes called cataphoresis, while electrophoresis of negatively charged particles or molecules (anions) is sometimes called anaphoresis. Electrophoresis is the basis for analytical techniques used in biochemistry and molecular biology to separate particles, molecules, or ions by size, charge, or binding affinity, either freely or through a supportive medium using a one-directional flow of electrical charge. It is use ...
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Thymine
Thymine () (symbol T or Thy) is one of the four nucleotide bases in the nucleic acid of DNA that are represented by the letters G–C–A–T. The others are adenine, guanine, and cytosine. Thymine is also known as 5-methyluracil, a pyrimidine nucleobase. In RNA, thymine is replaced by the nucleobase uracil. Thymine was first isolated in 1893 by Albrecht Kossel and Albert Neumann from calf thymus glands, hence its name. Derivation As its alternate name (5-methyluracil) suggests, thymine may be derived by methylation of uracil at the 5th carbon. In RNA, thymine is replaced with uracil in most cases. In DNA, thymine (T) binds to adenine (A) via two hydrogen bonds, thereby stabilizing the nucleic acid structures. Thymine combined with deoxyribose creates the nucleoside deoxythymidine, which is synonymous with the term thymidine. Thymidine can be phosphorylated with up to three phosphoric acid groups, producing dTMP (deoxythymidine monophosphate), dTDP, or dTTP (for the ...
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Cytosine
Cytosine () (symbol C or Cyt) is one of the four nucleotide bases found in DNA and RNA, along with adenine, guanine, and thymine ( uracil in RNA). It is a pyrimidine derivative, with a heterocyclic aromatic ring and two substituents attached (an amine group at position 4 and a keto group at position 2). The nucleoside of cytosine is cytidine. In Watson–Crick base pairing, it forms three hydrogen bonds with guanine. History Cytosine was discovered and named by Albrecht Kossel and Albert Neumann in 1894 when it was hydrolyzed from calf thymus tissues. A structure was proposed in 1903, and was synthesized (and thus confirmed) in the laboratory in the same year. In 1998, cytosine was used in an early demonstration of quantum information processing when Oxford University researchers implemented the Deutsch–Jozsa algorithm on a two qubit nuclear magnetic resonance quantum computer (NMRQC). In March 2015, NASA scientists reported the formation of cytosine, alon ...
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Guanine
Guanine () (symbol G or Gua) is one of the four main nucleotide bases found in the nucleic acids DNA and RNA, the others being adenine, cytosine, and thymine ( uracil in RNA). In DNA, guanine is paired with cytosine. The guanine nucleoside is called guanosine. With the formula C5H5N5O, guanine is a derivative of purine, consisting of a fused pyrimidine- imidazole ring system with conjugated double bonds. This unsaturated arrangement means the bicyclic molecule is planar. Properties Guanine, along with adenine and cytosine, is present in both DNA and RNA, whereas thymine is usually seen only in DNA, and uracil only in RNA. Guanine has multiple tautomeric forms. For the imidazole ring, the proton can reside on either nitrogen. For the pyrimidine ring, the ring N-H can center can reside on either of the ring nitrogens. The latter tautomer does not apply to nucleoside or nucleotide versions of guanine. It binds to cytosine through three hydrogen bonds. In cytosine, t ...
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Adenine
Adenine (, ) (nucleoside#List of nucleosides and corresponding nucleobases, symbol A or Ade) is a purine nucleotide base that is found in DNA, RNA, and Adenosine triphosphate, ATP. Usually a white crystalline subtance. The shape of adenine is complementary and pairs to either thymine in DNA or uracil in RNA. In cells adenine, as an independent molecule, is rare. It is almost always covalent bond, covalently bound to become a part of a larger biomolecule. Adenine has a central role in cellular respiration. It is part of adenosine triphosphate which provides the energy that drives and supports most activities in living cell (biology), cells, such as Protein biosynthesis, protein synthesis, chemical synthesis, muscle contraction, and nerve impulse propagation. In respiration it also participates as part of the cofactor (biochemistry), cofactors nicotinamide adenine dinucleotide, flavin adenine dinucleotide, and Coenzyme A. It is also part of adenosine, adenosine monophosphate, cy ...
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Nucleotide Base
Nucleotide bases (also nucleobases, nitrogenous bases) are nitrogen-containing biological compounds that form nucleosides, which, in turn, are components of nucleotides, with all of these monomers constituting the basic building blocks of nucleic acids. The ability of nucleobases to form base pairs and to stack one upon another leads directly to long-chain helical structures such as ribonucleic acid (RNA) and deoxyribonucleic acid (DNA). Five nucleobases—adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U)—are called ''primary'' or ''canonical''. They function as the fundamental units of the genetic code, with the bases A, G, C, and T being found in DNA while A, G, C, and U are found in RNA. Thymine and uracil are distinguished by merely the presence or absence of a methyl group on the fifth carbon (C5) of these heterocyclic six-membered rings. In addition, some viruses have aminoadenine (Z) instead of adenine. It differs in having an extra amine group, crea ...
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Electrophoresis Apparatus
Electrophoresis is the motion of charged dispersed particles or dissolved charged molecules relative to a fluid under the influence of a spatially uniform electric field. As a rule, these are zwitterions with a positive or negative net charge. Electrophoresis is used in laboratories to separate macromolecules based on their charges. The technique normally applies a negative charge called cathode so anionic protein molecules move towards a positive charge called anode. Therefore, electrophoresis of positively charged particles or molecules (cations) is sometimes called cataphoresis, while electrophoresis of negatively charged particles or molecules (anions) is sometimes called anaphoresis. Electrophoresis is the basis for analytical techniques used in biochemistry and molecular biology to separate particles, molecules, or ions by size, charge, or binding affinity, either freely or through a supportive medium using a one-directional flow of electrical charge. It is used e ...
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