 |
Microdeletion
In genetics, a deletion (also called gene deletion, deficiency, or Deletion anomaly, deletion mutation) (sign: delta (letter), Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single Nucleobase, base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur, which result in the deletion of a part of the chromosome. The breaks can be induced by heat, viruses, radiation, or chemical reactions. When a chromosome breaks, if a part of it is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single DNA base ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
 |
Williams Syndrome
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people have an outgoing personality, a happy disposition, an openness to engaging with other people, increased empathy and decreased aggression. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of hypercalcemia, high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a Deletion (genetics), deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
|
Deletion Of Chromosome Section
Deletion or delete may refer to: Arts and entertainment Music * Deletion (music industry), removal from a label's catalog * Delete (Dara Bubamara song), "Delete" (Dara Bubamara song), 2012 * Delete (DMA's song), "Delete" (DMA's song), 2014 * Delete (Story Untold song), "Delete" (Story Untold song), 2017 * Delete (Sid song), "Delete" (Sid song), 2020 * "Deletion", a song by Hans Zimmer from Dark Phoenix (soundtrack), ''Dark Phoenix'' (soundtrack), 2019 * "Delete", a song by Capsule from ''Caps Lock (album), Caps Lock'', 2013 * "Delete", a song by Killing Joke from ''Pylon (album), Pylon'', 2015 * "Delete", a song by Shinedown from ''Planet Zero'', 2022 * "Delete", a song by Younha from ''Gobaek Ha Gi Joheun Nal'', 2007 * "Deleted", a song by Tech N9ne and MacKenzie Nicole from ''The Storm (Tech N9ne album), The Storm'', 2016 Film and television * Delete (miniseries), ''Delete'' (miniseries), a 2013 TV miniseries * Deleted (film), ''Deleted'' (film), a 2022 Singaporean-Malaysian film ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
|
 |
Chromosomal Crossover
Chromosomal crossover, or crossing over, is the exchange of genetic material during sexual reproduction between two homologous chromosomes' sister chromatids, non-sister chromatids that results in recombinant chromosomes. It is one of the final phases of genetic recombination, which occurs in the ''pachytene'' stage of prophase I of meiosis during a process called synapsis. Synapsis is usually initiated before the synaptonemal complex develops and is not completed until near the end of prophase I. Crossover usually occurs when matching regions on matching chromosomes break and then reconnect to the other chromosome, resulting in Chiasma (genetics), chiasma which are the visible evidence of crossing over. History of discovery Crossing over was described, in theory, by Thomas Hunt Morgan; the term crossover was coined by Morgan and Eleth Cattell. Hunt relied on the discovery of Frans Alfons Janssens who described the phenomenon in 1909 and had called it "chiasmatypie". Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
 |
Infertility
In biology, infertility is the inability of a male and female organism to Sexual reproduction, reproduce. It is usually not the natural state of a healthy organism that has reached sexual maturity, so children who have not undergone puberty, which is the body's start of fertility, reproductive capacity, are excluded. It is also a normal state in women after menopause. In humans, ''infertility'' is defined as the inability to become pregnant after at least one year of unprotected and regular sexual intercourse involving a male and female partner. There are many causes of infertility, including some that Assisted reproductive technology, medical intervention can treat. Estimates from 1997 suggest that worldwide about five percent of all heterosexual couples have an unresolved problem with infertility. Many more couples, however, experience involuntary childlessness for at least one year, with estimates ranging from 12% to 28%. Male infertility is responsible for 20–30% of infert ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
 |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
 |
Translation (genetics)
In biology, translation is the process in living cells in which proteins are produced using RNA molecules as templates. The generated protein is a sequence of amino acids. This sequence is determined by the sequence of nucleotides in the RNA. The nucleotides are considered three at a time. Each such triple results in the addition of one specific amino acid to the protein being generated. The matching from nucleotide triple to amino acid is called the genetic code. The translation is performed by a large complex of functional RNA and proteins called ribosomes. The entire process is called gene expression. In translation, messenger RNA (mRNA) is decoded in a ribosome, outside the nucleus, to produce a specific amino acid chain, or polypeptide. The polypeptide later folds into an active protein and performs its functions in the cell. The polypeptide can also start folding during protein synthesis. The ribosome facilitates decoding by inducing the binding of complementary transfe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
 |
Codon
Genetic code is a set of rules used by living cells to translate information encoded within genetic material (DNA or RNA sequences of nucleotide triplets or codons) into proteins. Translation is accomplished by the ribosome, which links proteinogenic amino acids in an order specified by messenger RNA (mRNA), using transfer RNA (tRNA) molecules to carry amino acids and to read the mRNA three nucleotides at a time. The genetic code is highly similar among all organisms and can be expressed in a simple table with 64 entries. The codons specify which amino acid will be added next during protein biosynthesis. With some exceptions, a three-nucleotide codon in a nucleic acid sequence specifies a single amino acid. The vast majority of genes are encoded with a single scheme (see the RNA codon table). That scheme is often called the canonical or standard genetic code, or simply ''the'' genetic code, though variant codes (such as in mitochondria) exist. History Efforts to understan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
 |
Frameshift Mutation
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels ( insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein. A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. A frameshift mutation will in general cause the reading of the codons after the mutation to code for different amino acids. The frameshift mutation will also alter the first stop codon ("UAA", "UGA" or "UAG") encountered in the sequence. The polypeptide being created could be abnormally short or abnormally long, and will most li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
|
Nomenclature
Nomenclature (, ) is a system of names or terms, or the rules for forming these terms in a particular field of arts or sciences. (The theoretical field studying nomenclature is sometimes referred to as ''onymology'' or ''taxonymy'' ). The principles of naming vary from the relatively informal conventions of everyday speech to the internationally agreed principles, rules, and recommendations that govern the formation and use of the specialist terminology used in scientific and any other disciplines. Naming "things" is a part of general human communication using words and language: it is an aspect of everyday taxonomy as people distinguish the objects of their experience, together with their similarities and differences, which observers identify, name and classify. The use of names, as the many different kinds of nouns embedded in different languages, connects nomenclature to theoretical linguistics, while the way humans mentally structure the world in relation to word meanings a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
|
 |
Human Chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most important of these proteins are the histones. Aided by chaperone proteins, the histones bind to and condense the DNA molecule to maintain its integrity. These eukaryotic chromosomes display a complex three-dimensional structure that has a significant role in transcriptional regulation. Normally, chromosomes are visible under a light microscope only during the metaphase of cell division, where all chromosomes are aligned in the center of the cell in their condensed form. Before this stage occurs, each chromosome is duplicated (S phase), and the two copies are joined by a centromere—resulting in either an X-shaped structure if the centromere is located equatorially, or a two-armed structure if the centromere is located distally; the joined co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
|
International System For Human Cytogenomic Nomenclature
The International System for Human Cytogenomic Nomenclature (ISCN; previously the International System for Human Cytogenetic Nomenclature) is an international standard for human chromosome nomenclature, which includes band names, symbols, and abbreviated terms used in the description of human chromosome and chromosome abnormalities. The ISCN has been used as the central reference among cytogeneticists since 1960.Slovak M.L., Theisen A., Shaffer L.G. (2013) "Human Chromosome Nomenclature: An Overview and Definition of Terms." In: Gersen S., Keagle M. (eds) ''The Principles of Clinical Cytogenetics.'' Springer, New York, NY Abbreviations of this system include a minus sign (-) for chromosome deletions, and ''del'' for deletions of parts of a chromosome. Revision history * ISCN (2024). S. Karger Publishing. * ISCN (2020). S. Karger Publishing. * ISCN (2016). S. Karger Publishing. * ISCN (2013). S. Karger Publishing. * ISCN (2009). S. Karger Publishing. * ISCN (2005). ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
|
 |
Human Karyotype With Bands And Sub-bands
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing#Evolution of hairlessness, hairlessness, bipedality, bipedalism, and high Human intelligence, intelligence. Humans have large Human brain, brains, enabling more advanced cognitive skills that facilitate successful adaptation to varied environments, development of sophisticated tools, and formation of complex social structures and civilizations. Humans are Sociality, highly social, with individual humans tending to belong to a Level of analysis, multi-layered network of distinct social groups — from families and peer groups to corporations and State (polity), political states. As such, social interactions between humans have established a wide variety of Value theory, values, norm (sociology), social norms, languages, and traditions (co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |