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Genotypically
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous. Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the petal color in a pea plant is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. However ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microsatellite
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists. Microsatellites and their longer cousins, the minisatellites, together are classified as VNTR (variable number of tandem repeats) DNA. The name "satellite" DNA refers to the early observation that centrifugation of genomic DNA in a test tube separates a prominent layer of bulk DNA from accompanying "satellite" layers of repetitive DNA. They are widely used for DNA profiling in cancer diagnosis, in kinship analysis (especially paternity testing) and in forensic identific ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Expressivity (genetics)
In genetics, expressivity is the degree to which a phenotype is expressed by individuals having a particular genotype. (Alternately, it may refer to the expression of particular gene by individuals having a certain phenotype.) Expressivity is related to the ''intensity'' of a given phenotype; it differs from penetrance, which refers to the ''proportion'' of individuals with a particular genotype that actually express the phenotype. Variable expressivity Variable expressivity refers to the degree in which a genotype is phenotypically expressed. For example, multiple people with the same disease can have the same genotype but one may express more severe symptoms, while another carrier may appear normal. This variation in expression can be affected by modifier genes, epigenetic factors or the environment. Modifier genes can alter the expression of other genes in either an additive or multiplicative way. Meaning the phenotype that is observed can be a result of two different alleles b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntington's Disease
Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age but can start at any age. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as ''juvenile HD'', which typically present with the slow movement symptoms of Parkinson's d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Example Autosomal Recessive Pedigree
Example may refer to: * '' exempli gratia'' (e.g.), usually read out in English as "for example" * .example, reserved as a domain name that may not be installed as a top-level domain of the Internet ** example.com, example.net, example.org, example.edu, second-level domain names reserved for use in documentation as examples * HMS ''Example'' (P165), an Archer-class patrol and training vessel of the Royal Navy Arts * ''The Example'', a 1634 play by James Shirley * ''The Example'' (comics), a 2009 graphic novel by Tom Taylor and Colin Wilson * Example (musician), the British dance musician Elliot John Gleave (born 1982) * ''Example'' (album), a 1995 album by American rock band For Squirrels See also * * Exemplar (other), a prototype or model which others can use to understand a topic better * Exemplum, medieval collections of short stories to be told in sermons * Eixample The Eixample (; ) is a district of Barcelona between the old city (Ciutat Vella) and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Example Autosomal Dominant Pedigree 01
Example may refer to: * '' exempli gratia'' (e.g.), usually read out in English as "for example" * .example, reserved as a domain name that may not be installed as a top-level domain of the Internet ** example.com, example.net, example.org, example.edu, second-level domain names reserved for use in documentation as examples * HMS ''Example'' (P165), an Archer-class patrol and training vessel of the Royal Navy Arts * ''The Example'', a 1634 play by James Shirley * ''The Example'' (comics), a 2009 graphic novel by Tom Taylor and Colin Wilson * Example (musician), the British dance musician Elliot John Gleave (born 1982) * ''Example'' (album), a 1995 album by American rock band For Squirrels See also * * Exemplar (other), a prototype or model which others can use to understand a topic better * Exemplum, medieval collections of short stories to be told in sermons * Eixample The Eixample (; ) is a district of Barcelona between the old city (Ciutat Vella) and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Garland Science
Garland Science was a publishing group that specialized in developing textbooks in a wide range of life sciences subjects, including cell biology, cell and molecular biology, immunology, protein chemistry, genetics, and bioinformatics. It was a subsidiary of the Taylor & Francis Group. History The firm was founded as "Garland Publishing" in 1969 by Gavin Borden (1939-1991). Initially it published "18th-century literary criticism".Michael F. Suarez, S.J."Garland Publishing" in: ''The Oxford Companion to the Book'', Oxford University Press, 2010 (online edition). Retrieved 8 July 2022. By the late 1970s it was mainly publishing academic reference books along with facsimile and reprint editions for niche markets. Notable book series published by Garland Publishing included the Garland Reference Library of the Humanities (1975- ), the Garland Reference Library of Social Science (1983- ), and Garland Medieval Bibliographies (1989- ). The ''Garland Encyclopedia of World Music'' (10 volu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 chromosomal 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 Heredity, 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 linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Punnett Square
The Punnett square is a square diagram that is used to predict the genotypes of a particular cross or breeding experiment. It is named after Reginald C. Punnett, who devised the approach in 1905. The diagram is used by biologists to determine the probability of an offspring having a particular genotype. The Punnett square is a tabular summary of possible combinations of maternal alleles with paternal alleles. These tables can be used to examine the genotypical outcome probabilities of the offspring of a single trait (allele), or when crossing multiple traits from the parents. The Punnett square is a visual representation of Mendelian inheritance. It is important to understand the terms "heterozygous", "homozygous", "double heterozygote" (or homozygote), "dominant allele" and "recessive allele" when using the Punnett square method. For multiple traits, using the "forked-line method" is typically much easier than the Punnett square. Phenotypes may be predicted with at least better ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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