What Is The Gene Makeup Of An Organism Called

Function of the genetic makeup of a prison cell which determines one of its characteristics

Look upward genotype in Wiktionary, the gratis dictionary.

The genotype of an organism is its complete set of genetic textile.^[1] Genotype can also be used to refer to the alleles or variants an individual carries in a particular cistron or genetic location.^[two] The number of alleles an individual can have in a specific factor depends on the number of copies of each chromosome constitute in that species, likewise referred to equally ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for whatsoever given factor. If both alleles are the same, the genotype is referred to equally homozygous. If the alleles are dissimilar, the genotype is referred to equally heterozygous.

Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism.^[3] The caste to which genotype affects phenotype depends on the trait. For example, the petal color in a pea found is exclusively adamant by genotype. The petals tin can be purple or white depending on the alleles present in the pea plant.^[iv] All the same, other traits are only partially influenced by genotype. These traits are oft chosen complex traits considering they are influenced by additional factors, such as environmental and epigenetic factors. Not all individuals with the same genotype expect or act the same manner considering advent and behavior are modified past environmental and growing weather. Likewise, not all organisms that expect alike necessarily have the aforementioned genotype.

The term genotype was coined by the Danish botanist Wilhelm Johannsen in 1903.^[5]

Phenotype [edit]

Any given gene will usually cause an appreciable change in an organism, known every bit the phenotype. The terms genotype and phenotype are singled-out for at least two reasons:

• To distinguish the source of an observer's knowledge (ane can know about genotype by observing Deoxyribonucleic acid; 1 tin can know almost phenotype by observing outward appearance of an organism).
• Genotype and phenotype are not always directly correlated. Some genes only express a given phenotype in sure ecology conditions. Conversely, some phenotypes could be the upshot of multiple genotypes. The genotype is ordinarily mixed upward with the phenotype which describes the end result of both the genetic and the environmental factors giving the observed expression (e.m. blue eyes, pilus color, or various hereditary diseases).

A simple example to illustrate genotype every bit distinct from phenotype is the flower colour in pea plants (run into Gregor Mendel). There are 3 available genotypes, PP (homozygous ascendant ), Pp (heterozygous), and pp (homozygous recessive). All three have different genotypes but the first two take the same phenotype (majestic) as singled-out from the third (white).

A more technical example to illustrate genotype is the single-nucleotide polymorphism or SNP. A SNP occurs when corresponding sequences of DNA from dissimilar individuals differ at i DNA base, for example where the sequence AAGCCTA changes to AAGCTTA.^[6] This contains ii alleles : C and T. SNPs typically take three genotypes, denoted generically AA Aa and aa. In the instance above, the three genotypes would be CC, CT and TT. Other types of genetic mark, such as microsatellites, can take more two alleles, and thus many different genotypes.

Penetrance is the proportion of individuals showing a specified genotype in their phenotype nether a given gear up of environmental conditions.^[7]

Mendelian inheritance [edit]

Here the relation between genotype and phenotype is illustrated, using a Punnett square, for the character of petal colour in a pea constitute. The messages B and b represent alleles for colour and the pictures testify the resultant flowers. The diagram shows the cross betwixt ii heterozygous parents where B represents the ascendant allele (regal) and b represents the recessive allele (white).

Traits that are determined exclusively by genotype are typically inherited in a Mendelian pattern. These laws of inheritance were described extensively past Gregor Mendel, who performed experiments with pea plants to determine how traits were passed on from generation to generation.^[eight] He studied phenotypes that were easily observed, such as establish height, petal color, or seed shape.^[8] He was able to notice that if he crossed two true-breeding plants with singled-out phenotypes, all the offspring would have the same phenotype. For example, when he crossed a tall plant with a short plant, all the resulting plants would be tall. Even so, when he cocky-fertilized the plants that resulted, about 1/4 of the second generation would be short. He ended that some traits were dominant, such as alpine height, and others were recessive, like short height. Though Mendel was non aware at the fourth dimension, each phenotype he studied was controlled past a single gene with ii alleles. In the instance of constitute top, one allele caused the plants to be tall, and the other acquired plants to exist short. When the tall allele was present, the plant would be tall, even if the plant was heterozygous. In order for the found to be short, it had to be homozygous for the recessive allele.^{[eight] [9]}

One way this can be illustrated is using a Punnett square. In a Punnett foursquare, the genotypes of the parents are placed on the outside. An uppercase letter is typically used to correspond the dominant allele, and a lowercase letter is used to represent the recessive allele. The possible genotypes of the offspring can then be determined by combining the parent genotypes.^[ten] In the example on the right, both parents are heterozygous, with a genotype of Bb. The offspring tin can inherit a dominant allele from each parent, making them homozygous with a genotype of BB. The offspring can inherit a ascendant allele from ane parent and a recessive allele from the other parent, making them heterozygous with a genotype of Bb. Finally, the offspring could inherit a recessive allele from each parent, making them homozygous with a genotype of bb. Plants with the BB and Bb genotypes will look the same, since the B allele is ascendant. The plant with the bb genotype volition have the recessive trait.

These inheritance patterns can besides be applied to hereditary diseases or conditions in humans or animals.^{[xi] [12] [13]} Some atmospheric condition are inherited in an autosomal dominant pattern, meaning individuals with the condition typically accept an affected parent as well. A classic full-blooded for an autosomal ascendant condition shows afflicted individuals in every generation.^{[eleven] [12] [13]}

An example of a pedigree for an autosomal dominant condition

Other conditions are inherited in an autosomal recessive pattern, where affected individuals do not typically have an affected parent. Since each parent must have a copy of the recessive allele in order to have an affected offspring, the parents are referred to as carriers of the condition.^{[11] [12] [13]} In autosomal conditions, the sex of the offspring does not play a role in their hazard of being afflicted. In sex-linked conditions, the sex of the offspring affects their chances of having the condition. In humans, females inherit two X chromosomes, 1 from each parent, while males inherit an Ten chromosome from their mother and a Y chromosome from their father. X-linked ascendant weather can exist distinguished from autosomal dominant conditions in pedigrees by the lack of transmission from fathers to sons, since affected fathers only laissez passer their X chromosome to their daughters.^{[xiii] [14] [xv]} In Ten-linked recessive weather condition, males are typically afflicted more usually because they are hemizygous, with only one 10 chromosome. In females, the presence of a second 10 chromosome will preclude the condition from actualization. Females are therefore carriers of the condition and can pass the trait on to their sons.^{[thirteen] [fourteen] [15]}

An instance of a full-blooded for an autosomal recessive status

Mendelian patterns of inheritance can be complicated by boosted factors. Some diseases show incomplete penetrance, meaning non all individuals with the illness-causing allele develop signs or symptoms of the disease.^{[13] [xvi] [17]} Penetrance can likewise be age-dependent, significant signs or symptoms of disease are not visible until after in life. For example, Huntington illness is an autosomal dominant status, but upwardly to 25% of individuals with the afflicted genotype volition non develop symptoms until subsequently age l.^[18] Some other factor that can complicate Mendelian inheritance patterns is variable expressivity, in which individuals with the same genotype show unlike signs or symptoms of illness.^{[xiii] [16] [17]} For example, individuals with polydactyly can take a variable number of extra digits.^{[16] [17]}

Non-Mendelian inheritance [edit]

Many traits are non inherited in a Mendelian fashion, only take more complex patterns of inheritance.

Incomplete dominance [edit]

For some traits, neither allele is completely dominant. Heterozygotes often accept an advent somewhere in betwixt those of homozygotes.^{[19] [20]} For case, a cantankerous between true-breeding red and white Mirabilis jalapa results in pink flowers.^[xx]

Codominance [edit]

Codominance refers to traits in which both alleles are expressed in the offspring in approximately equal amounts.^[21] A classic example is the ABO claret group system in humans, where both the A and B alleles are expressed when they are present. Individuals with the AB genotype have both A and B proteins expressed on their red claret cells.^{[21] [22]}

Epistasis [edit]

Epistasis is when the phenotype of 1 gene is affected by ane or more other genes.^[23] This is often through some sort of masking issue of one gene on the other.^[24] For example, the "A" gene codes for pilus color, a ascendant "A" allele codes for brownish hair, and a recessive "a" allele codes for blonde hair, but a separate "B" cistron controls hair growth, and a recessive "b" allele causes alopecia. If the private has the BB or Bb genotype, and so they produce pilus and the hair colour phenotype can be observed, only if the individual has a bb genotype, then the person is bald which masks the A gene entirely.

Polygenic traits [edit]

A polygenic trait is ane whose phenotype is dependent on the additive furnishings of multiple genes. The contributions of each of these genes are typically small and add upwards to a last phenotype with a large corporeality of variation. A well studied example of this is the number of sensory bristles on a fly.^[25] These types of additive effects is also the explanation for the amount of variation in human centre color.

Genotyping [edit]

Genotyping refers to the method used to determine an individual's genotype. In that location are a diversity of techniques that can be used to appraise genotype. The genotyping method typically depends on what information is existence sought. Many techniques initially require distension of the DNA sample, which is commonly washed using PCR.

Some techniques are designed to investigate specific SNPs or alleles in a particular gene or set of genes, such as whether an private is a carrier for a particular condition. This can be done via a variety of techniques, including allele specific oligonucleotide (ASO) probes or DNA sequencing.^{[26] [27]} Tools such as multiplex ligation-dependent probe distension can as well be used to look for duplications or deletions of genes or cistron sections.^[27] Other techniques are meant to assess a large number of SNPs across the genome, such as SNP arrays.^{[26] [27]} This type of technology is commonly used for genome-wide association studies.

Large-scale techniques to assess the entire genome are also available. This includes karyotyping to determine the number of chromosomes an individual has and chromosomal microarrays to assess for big duplications or deletions in the chromosome.^{[26] [27]} More detailed information tin be adamant using exome sequencing, which provides the specific sequence of all Dna in the coding region of the genome, or whole genome sequencing, which sequences the entire genome including non-coding regions.^{[26] [27]}

See also [edit]

• Endophenotype
• Genotype–phenotype stardom
• Nucleic acid sequence
• Phenotype
• Sequence (biology)

References [edit]

1. ^ "What is genotype? What is phenotype? – pgEd". pged.org . Retrieved 2020-06-22 .
2. ^ "Genotype". Genome.gov . Retrieved 2021-11-09 .
3. ^ Pierce, Benjamin (2020). Genetics A Conceptual Approach. NY, New York: Macmillian. ISBN978-1-319-29714-5.
4. ^ Alberts B, Bray D, Hopkin Chiliad, Johnson A, Lewis J, Raff 1000, Roberts Grand, Walter P (2014). Essential Prison cell Biological science (4th ed.). New York, NY: Garland Scientific discipline. p. 659. ISBN978-0-8153-4454-4.
5. ^ Johannsen W (1903). "Om arvelighed i samfund og i rene linier". Oversigt Birdy over Det Kongelige Danske Videnskabernes Selskabs Forhandlingerm (in Danish). 3: 247–70. German language ed. "Erblichkeit in Populationen und in reinen Linien" (in German). Jena: Gustav Fischer. 1903. Archived from the original on 2009-05-thirty. Retrieved 2017-07-19 . . Likewise run across his monograph Johannsen W (1905). Arvelighedslærens elementer horse [The Elements of Heredity] (in Danish). Copenhagen. which was rewritten, enlarged and translated into German language as Johannsen W (1905). Elemente der exakten Erblichkeitslehre (in German). Jena: Gustav Fischer. Archived from the original on 2009-05-30. Retrieved 2017-07-19 .
6. ^ Vallente, R. U., PhD. (2020). Single Nucleotide Polymorphism. Salem Press Encyclopedia of Science.
7. ^ Allaby, Michael, ed. (2009). A lexicon of zoology (3rd ed.). Oxford: Oxford Academy Printing. ISBN9780199233410. OCLC 260204631.
8. ^ ^{a b c} "Gregor Mendel and the Principles of Inheritance | Learn Science at Scitable". www.nature.com . Retrieved 2021-xi-15 .
9. ^ "12.ane Mendel'south Experiments and the Laws of Probability - Biology | OpenStax". openstax.org . Retrieved 2021-eleven-15 .
10. ^ "three.6: Punnett Squares". Biology LibreTexts. 2016-09-21. Retrieved 2021-11-15 .
11. ^ ^{a b c} Alliance, Genetic; Health, District of Columbia Department of (2010-02-17). Classic Mendelian Genetics (Patterns of Inheritance). Genetic Alliance.
12. ^ ^{a b c} "Mendelian Inheritance". Genome.gov . Retrieved 2021-11-xv .
13. ^ ^{a b c d eastward f g} Strachan, T. (2018). Homo molecular genetics. Andrew P. Read (5th ed.). New York: Garland Science. ISBN978-0-429-82747-one. OCLC 1083018958.
14. ^ ^{a b} Alliance, Genetic; Health, District of Columbia Department of (2010-02-17). Classic Mendelian Genetics (Patterns of Inheritance). Genetic Brotherhood.
15. ^ ^{a b} "iv.4.one: Inheritance patterns for X-linked and Y-linked genes". Biology LibreTexts. 2020-06-24. Retrieved 2021-11-fifteen .
16. ^ ^{a b c} "14.two: Penetrance and Expressivity". Biology LibreTexts. 2021-01-13. Retrieved 2021-xi-19 .
17. ^ ^{a b c} "Phenotype Variability: Penetrance and Expressivity | Larn Science at Scitable". www.nature.com . Retrieved 2021-11-19 .
18. ^ Caron, Nicholas South.; Wright, Galen EB; Hayden, Michael R. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie Eastward. (eds.), "Huntington Affliction", GeneReviews®, Seattle (WA): Academy of Washington, Seattle, PMID 20301482, retrieved 2021-11-nineteen
19. ^ "Genetic Authority: Genotype-Phenotype Relationships | Larn Science at Scitable". world wide web.nature.com . Retrieved 2021-11-fifteen .
20. ^ ^{a b} Frizzell, One thousand.A. (2013), "Incomplete Say-so", Brenner's Encyclopedia of Genetics, Elsevier, pp. 58–60, doi:10.1016/b978-0-12-374984-0.00784-1, ISBN978-0-08-096156-nine , retrieved 2021-11-15
21. ^ ^{a b} Xia, X. (2013), "Codominance", Brenner's Encyclopedia of Genetics, Elsevier, pp. 63–64, doi:10.1016/b978-0-12-374984-0.00278-iii, ISBN978-0-08-096156-ix , retrieved 2021-eleven-15
22. ^ "Genetic Dominance: Genotype-Phenotype Relationships | Learn Science at Scitable". www.nature.com . Retrieved 2021-11-fifteen .
23. ^ Gros, Pierre-Alexis; Nagard, Hervé Le; Tenaillon, Olivier (2009-05-01). "The Evolution of Epistasis and Its Links With Genetic Robustness, Complication and Drift in a Phenotypic Model of Accommodation". Genetics. 182 (1): 277–293. doi:10.1534/genetics.108.099127. ISSN 0016-6731. PMC2674823. PMID 19279327.
24. ^ Rieger, Rigomar. (1976). Glossary of genetics and cytogenetics : classical and molecular. Michaelis, Arnd,, Green, Melvin M. (4th completely rev. ed.). Berlin: Springer-Verlag. ISBN0-387-07668-9. OCLC 2202589.
25. ^ Mackay, T. F. (Dec 1995). "The genetic basis of quantitative variation: numbers of sensory beard of Drosophila melanogaster as a model arrangement". Trends in Genetics. 11 (12): 464–470. doi:10.1016/s0168-9525(00)89154-iv. ISSN 0168-9525. PMID 8533161.
26. ^ ^{a b c d} Jain, Kewal M. (2015), Jain, Kewal K. (ed.), "Molecular Diagnostics in Personalized Medicine", Textbook of Personalized Medicine, New York, NY: Springer, pp. 35–89, doi:10.1007/978-1-4939-2553-7_2, ISBN978-i-4939-2553-seven , retrieved 2021-11-19
27. ^ ^{a b c d eastward} Wallace, Stephanie East.; Edible bean, Lora JH (2020-06-18). Educational Materials — Genetic Testing: Current Approaches. University of Washington, Seattle.

External links [edit]

Wikimedia Commons has media related to Genotypes.

• Genetic nomenclature

Source: https://en.wikipedia.org/wiki/Genotype

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