Genotype: Difference between revisions
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{{for|a non-technical introduction to the topic|Introduction to genetics}} |
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{{primary sources|date=October 2011}} |
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[[Image:Punnett square mendel flowers.svg|thumb|right|Here the relation between genotype and phenotype is illustrated, using a [[Punnett square]], for the character of petal colour in pea. The letters B and b represent genes for colour and the pictures show the resultant flowers.]] |
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The '''genotype''' is the [[Genetics|genetic]] makeup of a cell, an organism, or an individual (i.e. the specific [[allele]] makeup of the individual) usually with reference to a specific character under consideration.<ref>[http://www.medterms.com/script/main/art.asp?articlekey=8472 Genotype definition - Medical Dictionary definitions]</ref> For instance, the human CFTR gene, which encodes a protein that transports chloride ions across cell membranes, can be dominant (A) as the normal version of the gene, or recessive (a) as a mutated version of the gene. Individuals receiving two [[Recessive|recessive alleles]] will be diagnosed with [[Cystic fibrosis]]. It is generally accepted that inherited genotype, transmitted [[epigenetic]] factors, and non-[[hereditary]] environmental variation contribute to the [[phenotype]] of an individual. |
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Non-hereditary [[DNA]] mutations are not classically understood as representing the individual's genotype. Hence, scientists and [[physicians]] sometimes talk for example about the (geno)type of a particular [[cancer]], that is the genotype of the disease as distinct from the diseased. |
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==Genotype and genomic sequence == |
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{{main|Genome}} |
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One's genotype differs subtly from one's genomic sequence. A sequence is an absolute measure of base composition of an individual, or a representative of a species or group; a genotype typically implies a measurement of how an individual ''differs'' or is specialized within a group of individuals or a species. So typically, one refers to an individual's genotype with regard to a particular [[gene]] of interest and, in [[polyploid]] individuals, it refers to what combination of [[allele]]s the individual carries (see [[homozygous]], [[heterozygous]]). The genetic constitution of an organism is referred to as its genotype, such as the letters Bb. (B - dominant genotype and b - recessive genotype) |
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==Genotype and Mendelian inheritance== |
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{{main|Mendelian inheritance}} |
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The distinction between genotype and phenotype is commonly experienced when studying family patterns for certain [[Genetic disorder|hereditary diseases]] or conditions, for example, [[haemophilia]]. Due to the diploidy of humans (and most animals), there are two [[allele]]s for any given gene. These [[allele]]s can be the same (homozygous) or different (heterozygous), depending on the individual (see [[zygosity|zygote]]). With a [[dominant allele]], the offspring is guaranteed to inherit the trait in question irrespective of the second allele. |
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In the case of an albino with a recessive allele (aa), the phenotype depends upon the other allele (Aa, aa or AA). An affected person mating with a heterozygous individual (Aa or aA, also '''carrier''') there is a 50-50 chance the offspring will be albino's phenotype. If a heterozygote mates with another heterozygote, there is 75% chance passing the gene on and only a 25% chance that the gene will be displayed. A homozygous dominant (AA) individual has a normal phenotype and no risk of abnormal offspring. A homozygous recessive individual has an abnormal phenotype and is guaranteed to pass the abnormal gene onto offspring. |
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In the case of haemophilia, it is sex-linked thus only carried on the X chromosome. Only females can be a '''carrier''' in which the abnormality is not displayed. This woman has a normal phenotype, but runs a 50-50 chance, with an unaffected partner, of passing her abnormal gene on to her offspring. If she mated with a man with haemophilia (another [[genetic carrier|carrier]]) there would be a 75% chance of passing on the gene. |
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==Genotype and mathematics== |
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:''Main articles: [[Genetic programming]] and [[evolutionary algorithm]]'' |
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Inspired by the [[biology|biological]] concept and usefulness of genotypes, [[computer science]] employs simulated phenotypes in [[genetic programming]] and [[evolutionary algorithm]]s. Such techniques can help [[evolution|evolve]] [[mathematics|mathematical]] solutions to certain types of otherwise difficult problems. |
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==Determining genotype== |
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{{main|Genotyping}} |
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''Genotyping'' is the process of elucidating the genotype of an individual with a biological [[assay]]. Also known as a ''genotypic assay'', techniques include [[PCR]], [[Restriction digest|DNA fragment analysis]], [[allele specific oligonucleotide]] (ASO) probes, [[DNA sequencing]], and [[nucleic acid hybridization]] to [[DNA microarrays]] or beads. Several common genotyping techniques include [[restriction fragment length polymorphism]] (''RFLP''), [[terminal restriction fragment length polymorphism]] (''t-RFLP''),<ref>{{cite web|author=Hulce, David; Liu, ChangSheng (Jonathan)|date=July 2006 |url=http://www.softgenetics.com/T-RFLPapplicationnote.pdf |title=SoftGenetics Application Note - GeneMarker® Software for Terminal-Restriction Fragment Length Polymorphism (T-RFLP) Data Analysis |publisher=SoftGenetics |format=PDF }}</ref> [[amplified fragment length polymorphism]] (''AFLP''),<ref>[http://www.keygene.com/home/index.php "Keygene.com Homepage"]</ref> and [[multiplex ligation-dependent probe amplification]] (''MLPA'').<ref>{{cite web|url=http://www.softgenetics.com/MethylationDetectionApplicationNote.pdf |title=SoftGenetics Application Note - Software for Multiplex Ligation-dependent Probe Amplification (MLPA™) |format=PDF |date= April, 2006 |publisher=SoftGenetics |accessdate=2011-03-13}}</ref> |
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DNA fragment analysis can also be used to determine such disease causing genetics aberrations as [[microsatellite instability]] (''MSI''),<ref>{{cite web |title=SoftGenetics Application Note - Microsatellite Instability Analysis with GeneMarker® Tamela Serensits|author= He, Haiguo; Ning, Wan; Liu, Jonathan |url=http://www.softgenetics.com/MSIApplicationNote.pdf |publisher=SoftGenetics |date=March 2007 |format=PDF}}</ref> ''[[trisomy]]''<ref>{{cite web |title=SoftGenetics Application Note - GeneMarker® Software for Trisomy Analysis |url=http://www.softgenetics.com/Trisomyapplicationnote.pdf |format=PDF |publisher=SoftGenetics |date=November 2006}}</ref> or [[aneuploidy]], and [[loss of heterozygosity]] (''LOH'').<ref>{{cite web |title=SoftGenetics Application Note - Loss of Heterozygosity Detection with GeneMarker| author=Serensits, Pamela; He, Haiguo, Ning, Wan; Liu, Jonathan|publisher=SoftGenetics |date=March 2007 |url=http://www.softgenetics.com/LOHapplicationnote.pdf }}</ref> MSI and LOH in particular have been associated with [[cancer cell]] genotypes for [[Colon cancer|colon]], [[Breast cancer|breast]] and [[cervical cancer]]. |
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The most common chromosomal aneuploidy is a trisomy of chromosome 21 which manifests itself as [[Down syndrome]]. Current technological limitations typically allow only a fraction of an individual’s genotype to be determined efficiently. |
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==References== |
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{{reflist|2}} |
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==External links== |
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{{wiktionary|genotype|phenotype|inheritance|genome}} |
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*[http://www.sci.sdsu.edu/~smaloy/MicrobialGenetics/topics/mutations/nomenclature-v3.pdf Genetic nomenclature] |
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[[Category:Genetics]] |
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[[Category:Polymorphism]] |
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[[ar:نمط جيني]] |
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[[bg:Генотип]] |
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[[ca:Genotip]] |
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[[cs:Genotyp]] |
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[[da:Genotype]] |
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[[de:Genotyp]] |
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[[et:Genotüüp]] |
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[[el:Γονότυπος]] |
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[[es:Genotipo]] |
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[[eu:Genotipo]] |
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[[fa:ژنوتیپ]] |
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[[fr:Génotype]] |
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[[gl:Xenotipo]] |
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[[ko:유전형]] |
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[[hy:Գենոտիպ]] |
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[[is:Arfgerð]] |
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[[it:Genotipo]] |
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[[he:גן (ביולוגיה)#מושגים בסיסיים]] |
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[[kk:Тектік түр]] |
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[[ky:Генотип]] |
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[[la:Genotypus]] |
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[[hu:Genotípus]] |
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[[nl:Genotype]] |
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[[ja:遺伝子型]] |
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[[nds:Genotyyp]] |
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[[pl:Genotyp]] |
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[[pt:Genótipo]] |
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[[ro:Genotip]] |
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[[ru:Генотип]] |
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[[stq:Genotyp]] |
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[[simple:Genotype]] |
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[[sk:Genotyp]] |
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[[sl:Genotip]] |
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[[sr:Генотип]] |
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[[fi:Genotyyppi]] |
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[[sv:Genotyp]] |
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[[tl:Henotipo]] |
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[[ta:மரபணுவமைப்பு]] |
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[[th:ลักษณะทางพันธุกรรม]] |
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[[tg:Генотип]] |
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[[tr:Genotip]] |
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[[uk:Генотип]] |
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[[zh:基因型]] |
Revision as of 19:16, 1 November 2012
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