Noninvasive Genotyping For Conservation
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Noninvasive Genotyping For Conservation
Noninvasive genotyping is a modern technique for obtaining DNA for genotyping that is characterized by the indirect sampling of specimen, not requiring harm to, handling of, or even the presence of the organism of interest. Beginning in the early 1990s, with the advent of Polymerase chain reaction, PCR, researchers have been able to obtain high-quality DNA samples from small quantities of hair, feathers, scales, or excrement. These noninvasive samples are an improvement over older allozyme and DNA sampling techniques that often required larger samples of tissue or the destruction of the studied organism. Noninvasive genotyping is widely utilized in conservation efforts, where capture and sampling may be difficult or disruptive to behavior. Additionally, in medicine, this technique is being applied in humans for the diagnosis of genetic disease and early detection of tumors. In this context, invasivity takes on a separate definition where noninvasive sampling also includes simple blood ...
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Polymerase Chain Reaction
The polymerase chain reaction (PCR) is a method widely used to make millions to billions of copies of a specific DNA sample rapidly, allowing scientists to amplify a very small sample of DNA (or a part of it) sufficiently to enable detailed study. PCR was invented in 1983 by American biochemist Kary Mullis at Cetus Corporation. Mullis and biochemist Michael Smith (chemist), Michael Smith, who had developed other essential ways of manipulating DNA, were jointly awarded the Nobel Prize in Chemistry in 1993. PCR is fundamental to many of the procedures used in genetic testing and research, including analysis of Ancient DNA, ancient samples of DNA and identification of infectious agents. Using PCR, copies of very small amounts of DNA sequences are exponentially amplified in a series of cycles of temperature changes. PCR is now a common and often indispensable technique used in medical laboratory research for a broad variety of applications including biomedical research and forensic ...
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Karyotype
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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DNA Purification
Nucleic acid methods are the techniques used to study nucleic acids: DNA and RNA. Purification *DNA extraction *Phenol–chloroform extraction * Minicolumn purification *RNA extraction * Boom method * Synchronous coefficient of drag alteration (SCODA) DNA purification Quantification *Abundance in weight: spectroscopic nucleic acid quantitation *Absolute abundance in number: real-time polymerase chain reaction (quantitative PCR) *High-throughput relative abundance: DNA microarray *High-throughput absolute abundance: serial analysis of gene expression (SAGE) *Size: gel electrophoresis Synthesis *''De novo'': oligonucleotide synthesis *Amplification: polymerase chain reaction (PCR), loop-mediated isothermal amplification (LAMP), transcription-mediated amplification (TMA) Kinetics * Multi-parametric surface plasmon resonance *Dual-polarization interferometry * Quartz crystal microbalance with dissipation monitoring (QCM-D) Gene function *RNA interference Other *Bisulfite sequencin ...
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Liquid Biopsy
A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood. Like traditional biopsy, this type of technique is mainly used as a diagnostic and monitoring tool for diseases such as cancer, with the added benefit of being largely non-invasive. Liquid biopsies may also be used to validate the efficiency of a cancer treatment drug by taking multiple samples in the span of a few weeks. The technology may also prove beneficial for patients after treatment to monitor relapse. The clinical implementation of liquid biopsies is not yet widespread but is becoming standard of care in some areas. Liquid biopsy refers to the molecular analysis in biological fluids of nucleic acids, subcellular structures, especially exosomes, and, in the context of cancer, circulating tumor cells. Types There are several types of liquid biopsy methods; method selection depends on the condition that is being studied. A wid ...
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Metastasis
Metastasis is a pathogenic agent's spreading from an initial or primary site to a different or secondary site within the host's body; the term is typically used when referring to metastasis by a cancerous tumor. The newly pathological sites, then, are metastases (mets). It is generally distinguished from cancer invasion, which is the direct extension and penetration by cancer cells into neighboring tissues. Cancer occurs after cells are genetically altered to proliferate rapidly and indefinitely. This uncontrolled proliferation by mitosis produces a primary tumor, primary tumour heterogeneity, heterogeneic tumour. The cells which constitute the tumor eventually undergo metaplasia, followed by dysplasia then anaplasia, resulting in a Malignancy, malignant phenotype. This malignancy allows for invasion into the circulation, followed by invasion to a second site for tumorigenesis. Some cancer cells, known as circulating tumor cells (CTCs), are able to penetrate the walls of lymp ...
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Circulating Tumor DNA
Circulating tumor DNA (ctDNA) is tumor-derived fragmented DNA in the bloodstream that is not associated with cells. ctDNA should not be confused with cell-free DNA ( cfDNA), a broader term which describes DNA that is freely circulating in the bloodstream, but is not necessarily of tumor origin. Because ctDNA may reflect the entire tumor genome, it has gained traction for its potential clinical utility; " liquid biopsies" in the form of blood draws may be taken at various time points to monitor tumor progression throughout the treatment regimen. Recent studies have laid the foundation for inferring gene expression from cfDNA (and ctDNA), with EPIC-seq emerging as a notable advancement. This method has substantially raised the bar for the noninvasive inference of expression levels of individual genes, thereby augmenting the assay's applicability in disease characterization, histological classification, and monitoring treatment efficacy. ctDNA originates directly from the tumor or f ...
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21 Trisomy - Down Syndrome
1 (one, unit, unity) is a number, numeral, and glyph. It is the first and smallest positive integer of the infinite sequence of natural numbers. This fundamental property has led to its unique uses in other fields, ranging from science to sports, where it commonly denotes the first, leading, or top thing in a group. 1 is the unit of counting or measurement, a determiner for singular nouns, and a gender-neutral pronoun. Historically, the representation of 1 evolved from ancient Sumerian and Babylonian symbols to the modern Arabic numeral. In mathematics, 1 is the multiplicative identity, meaning that any number multiplied by 1 equals the same number. 1 is by convention not considered a prime number. In digital technology, 1 represents the "on" state in binary code, the foundation of computing. Philosophically, 1 symbolizes the ultimate reality or source of existence in various traditions. In mathematics The number 1 is the first natural number after 0. Each natural number, ...
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Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ...
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Noninvasive
Minimally invasive procedures (also known as minimally invasive surgeries) encompass surgical techniques that limit the size of incisions needed, thereby reducing wound healing time, associated pain, and risk of infection. Surgery by definition is invasive, and many operations requiring incisions of some size are referred to as ''open surgery''. Incisions made during open surgery can sometimes leave large wounds that may be painful and take a long time to heal. Advancements in medical technologies have enabled the development and regular use of minimally invasive procedures. For example, endovascular aneurysm repair, a minimally invasive surgery, has become the most common method of repairing abdominal aortic aneurysms in the US as of 2003. The procedure involves much smaller incisions than the corresponding open surgery procedure of open aortic surgery. Interventional radiologists were the forerunners of minimally invasive procedures. Using imaging techniques, radiologists ...
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Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell (biology), cell, for example a human somatic (biology), somatic cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more ploidy#Haploid and monoploid, complete sets of chromosomes. A cell with any number of complete chromosome sets is called a ''ploidy#Euploid, euploid'' cell. An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. About 68% of human solid tumors are aneuploid. Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are Down syndrome, 21, Edwards syndrome, 18 and Patau syndrome, 13. Chromosome abnormality, Chromosome abnormalities are detected in 1 of 160 live huma ...
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Cell-free Fetal DNA
Cell-free fetal DNA (cffDNA) is fetal DNA that circulates freely in the maternal blood. Maternal blood is sampled by venipuncture. Analysis of cffDNA is a method of non-invasive prenatal diagnosis frequently ordered for pregnant women of advanced age. Two hours after delivery, cffDNA is no longer detectable in maternal blood. Background cffDNA originates from placental trophoblasts. Fetal DNA is fragmented when placental microparticles are shed into the maternal blood circulation. cffDNA fragments are approximately 200 base pairs (bp) in length. They are significantly smaller than maternal DNA fragments. The difference in size allows cffDNA to be distinguished from maternal DNA fragments. Approximately 11 to 13.4 percent of the cell-free DNA in maternal blood is of fetal origin. The amount varies widely from one pregnant woman to another. cffDNA is present after five to seven weeks gestation. The amount of cffDNA increases as the pregnancy progresses. The quantity of cffDNA ...
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