|
Single-nucleotide Polymorphism Genotyping
SNP genotyping is the measurement of genetic variations of single nucleotide polymorphisms (SNPs) between members of a species. It is a form of genotyping, which is the measurement of more general genetic variation. SNPs are one of the most common types of genetic variation. An SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is > 1%). SNPs are found to be involved in the etiology of many human diseases and are becoming of particular interest in pharmacogenetics. Because SNPs are conserved during evolution, they have been proposed as markers for use in quantitative trait loci ( QTL) analysis and in association studies in place of microsatellites. The use of SNPs is being extended in the HapMap project, which aims to provide the minimal set of SNPs needed to genotype the human genome. SNPs can also provide a genetic fingerprint for use in identity testing. The increase of interest in SNPs has been reflec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Single Nucleotide Polymorphism
In genetics and bioinformatics, 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, a G nucleotide present at a specific location in a reference genome may be replaced by an A in a minority of individuals. The two possible nucleotide variations of this SNP – G or A – are called alleles. SNPs can help explain differences in susceptibility to a wide range of diseases across a population. For example, a common SNP in the CFH gene is associated with increased risk of age-related macular degeneration. Differences in the severity of an illness or response to treatments may also be manifestations of genetic variations caused by SNPs. For example, two common SNPs in the ''A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sequenom
Sequenom, Inc. is an American company based in San Diego, California. It develops enabling molecular technologies, and highly sensitive laboratory genetic tests for NIPT. Sequenom's wholly owned subsidiary, Sequenom Center for Molecular Medicine (SCMM), offers multiple clinical molecular genetics tests to patients, including MaterniT21, plus a noninvasive prenatal test for trisomy 21, trisomy 18, and trisomy 13, and the SensiGene RHD Fetal RHD genotyping test. The company went public via an initial public offering in 2000. In June 2014 the company sold its biosciences unit to Agena Bioscience for up to $35.8 million. In July 2016, it was announced that diagnostic and testing giant LabCorp will acquire Sequenom, paying $2.40 for every outstanding share of Sequenom stock. The acquisition was completed in September 2016. Competition Companies also offering non-invasive prenatal genetic testing include Ariosa, Ravgen, Illumina (Verinata Health), PerkinElmer and Natera (The Pano ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MALDI-TOF
In mass spectrometry, matrix-assisted laser desorption/ionization (MALDI) is an ionization technique that uses a laser energy-absorbing matrix to create ions from large molecules with minimal fragmentation. It has been applied to the analysis of biomolecules (biopolymers such as DNA, proteins, peptides and carbohydrates) and various organic molecules (such as polymers, dendrimers and other macromolecules), which tend to be fragile and fragment when ionized by more conventional ionization methods. It is similar in character to electrospray ionization (ESI) in that both techniques are relatively soft (low fragmentation) ways of obtaining ions of large molecules in the gas phase, though MALDI typically produces far fewer multi-charged ions . MALDI methodology is a three-step process. First, the sample is mixed with a suitable matrix material and applied to a metal plate. Second, a pulsed laser irradiates the sample, triggering ablation and desorption of the sample and matrix materi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Serial Invasive Signal Amplification Reaction
Serial may refer to: Arts, entertainment, and media The presentation of works in sequential segments * Serial (literature), serialised literature in print * Serial (publishing), periodical publications and newspapers * Serial (radio and television), series of radio and television programs that rely on a continuing plot * Serial film, a series of short subjects, with a continuing story, originally shown in theaters, in conjunction with feature films, particularly in the 1930s and 1940s * Indian serial, a type of Indian television program Other uses in arts, entertainment, and media * ''Serial'' (1980 film), based on McFadden's novel, starring Martin Mull and Tuesday Weld * ''Serial'' (podcast), a podcast spinoff of radio series ''This American Life'' * ''The Serial: A Year in the Life of Marin County'', a 1977 novel by Cyra McFadden Computing and technology * SerDes, a Serializer/Deserializer (pronounced sir-deez) * Serial ATA * Serial attached SCSI * Serial bus, e.g., **I²C * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Invader Assay
''InVader'' is the fourth album by Finnish glam metal band Reckless Love, released on 4 March 2016 through Spinefarm Records. Track listing All songs written by Olli Herman, Pepe Reckless, and Ikka Wirtanen, unless otherwise noted. Reception Writing for ''Classic Rock'', Johnny Sharp pointed out the pop elements of several songs as "flagrant attempts to make radio-friendly sing-alongs" and ultimately said "we realise all this, as someone once sang, ain't nothin' but a good time. That's what they'll tell the taste police anyway." On Dangerdog, Craig Hartranft said the boys "write some quality rock n roll tunes. Damn catchy rock n roll tunes", praised their individual performances and said "it's probably fair to say that there's not a single bad song on this album". Nick Balazs from ''Brave Words & Bloody Knuckles'' also noted the pop and even rap incursions of the band, but felt they "retain the fun, positive-natured attitude of Reckless Love". He concluded his review by saying: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Flap Endonuclease
Flap endonucleases (FENs, also known as 5' durgs in older references) are a class of nucleolytic enzymes that act as both 5'-3' exonucleases and structure-specific endonucleases on specialised DNA structures that occur during the biological processes of DNA replication, DNA repair, and DNA recombination. Flap endonucleases have been identified in eukaryotes, prokaryotes, archaea, and some viruses. Organisms can have more than one FEN homologue; this redundancy may give an indication of the importance of these enzymes. In prokaryotes, the FEN enzyme is found as an N-terminal domain of DNA polymerase I, but some prokaryotes appear to encode a second homologue. The endonuclease activity of FENs was initially identified as acting on a DNA duplex which has a single-stranded 5' overhang on one of the strands (termed a "5' flap", hence the name flap endonuclease). FENs catalyse hydrolytic cleavage of the phosphodiester bond at the junction of single- and double-stranded DNA. Some FENs ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Restriction Fragment Length Polymorphism
In molecular biology, restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologous DNA sequences, known as polymorphisms, populations, or species or to pinpoint the locations of genes within a sequence. The term may refer to a polymorphism itself, as detected through the differing locations of restriction enzyme sites, or to a related laboratory technique by which such differences can be illustrated. In RFLP analysis, a DNA sample is digested into fragments by one or more restriction enzymes, and the resulting ''restriction fragments'' are then separated by gel electrophoresis according to their size. RFLP analysis is now largely obsolete due to the emergence of inexpensive DNA sequencing technologies, but it was the first DNA profiling technique inexpensive enough to see widespread application. RFLP analysis was an important early tool in genome mapping, localization of genes for genetic disorders, determination of risk for disease, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nucleases
In biochemistry, a nuclease (also archaically known as nucleodepolymerase or polynucleotidase) is an enzyme capable of cleaving the phosphodiester bonds that link nucleotides together to form nucleic acids. Nucleases variously affect single and double stranded breaks in their target molecules. In living organisms, they are essential machinery for many aspects of DNA repair. Defects in certain nucleases can cause genetic instability or immunodeficiency. Nucleases are also extensively used in molecular cloning. There are two primary classifications based on the locus of activity. Exonucleases digest nucleic acids from the ends. Endonucleases act on regions in the ''middle'' of target molecules. They are further subcategorized as deoxyribonucleases and ribonucleases. The former acts on DNA, the latter on RNA. History In the late 1960s, scientists Stuart Linn and Werner Arber isolated examples of the two types of enzymes responsible for phage growth restriction in Escherichia col ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNA Polymerase
A DNA polymerase is a member of a family of enzymes that catalyze the synthesis of DNA molecules from nucleoside triphosphates, the molecular precursors of DNA. These enzymes are essential for DNA replication and usually work in groups to create two identical DNA duplexes from a single original DNA duplex. During this process, DNA polymerase "reads" the existing DNA strands to create two new strands that match the existing ones. These enzymes catalysis, catalyze the chemical reaction : deoxynucleoside triphosphate + DNAn pyrophosphate + DNAn+1. DNA polymerase adds nucleotides to the Directionality (molecular biology), three prime (3')-end of a DNA strand, one nucleotide at a time. Every time a Cell division, cell divides, DNA polymerases are required to duplicate the cell's DNA, so that a copy of the original DNA molecule can be passed to each daughter cell. In this way, genetic information is passed down from generation to generation. Before replication can take place, an enzy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
