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20-September-2008 09:55:54 - Genotype July 2008 For a non-technical introduction to the topic, see Introduction to genetics. 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. 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. The genotype is the genetic constitution 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 12. For instance, the human albino gene has two allelic forms, dominant A and recessive a, and there are three possible genotypes- AA homozygous dominant, Aa heterozygous, and aa homozygous recessive. It is a generally accepted theory that inherited genotype, transmitted epigenetic factors, and non-herary environmental variation contribute to the phenotype of an individual. Non-herary DNA mutations are not classically understood as representing the individuals' genotype. Hence, scientists and doctors sometimes talk for example about the genotype of a particular cancer, that is the genotype of the disease as distinct from the diseased. Contents 1 Genotype and genomic sequence 2 Genotype and phenotype 3 Genotype and Mendelian inheritance 4 Genotype and genetics 5 Genotype and mathematics 6 Determining Genotype 7 References Genotype and genomic sequence Main article: Genome 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 alleles the individual carries see homozygous, heterozygous. Genotype and phenotype Main article: Phenotype Any given gene will usually cause an observable change in an organism, known as the phenotype. The terms genotype and phenotype are distinct for at least two reasons: To distinguish the source of an observer's knowledge one can know about genotype by observing DNA; one can know about phenotype by observing outward appearance of an organism. Genotype and phenotype are not always directly correlated. Some genes only express a given phenotype in certain environmental conditions. Conversely, some phenotypes could be the result of multiple genotypes. The genotype is commonly mixed up with the Phenotype which describes the end result of both the genetic and the environmental factors giving the observed expression e.g. blue eyes, hair colour, or various herary diseases. A simple example to illustrate genotype as distinct from phenotype is the flower colour in pea plants see Gregor Mendel. There are three available genotypes, PP homozygous dominant, Pp heterozygous, and pp homozygous recessive. All three have different genotypes but the first two have the same phenotype purple as distinct 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 different individuals differ at one DNA base, for example where the sequence AAGCCTA changes to AAGCTTA. This contains two alleles : C and T. SNPs typically have three genotypes, denoted generically AA Aa and aa. In the example above, the three genotypes would be CC, CT and TT. Other types of genetic marker, such as microsatellites, can have more than two alleles, and thus many different genotypes. Genotype and Mendelian inheritance Main article: Mendelian inheritance The distinction between genotype and phenotype is commonly experienced when studying family patterns for certain herary diseases or conditions, for example, haemophilia. Due to the diploidy of humans and most animals, there are two alleles for any given gene. These alleles can be the same homozygous or differentheterozygous, depending on the individual see zygote. With a dominant allele, the offspring is guaranteed to inherit the trait in question irrespective of the second allele. With a recessive allele, the phenotype depends upon the other allele. In the case of haemophilia and similarly recessive diseases a heterozygous individual is a carrier. This person has a normal phenotype but runs a 50-50 risk of passing his or her abnormal gene on to offspring. A homozygous recessive individual has a normal phenotype and no risk of abnormal offspring. A homozygous dominant individual has an abnormal phenotype and is guaranteed to pass the abnormal gene onto offspring. Genotype and genetics Main article: Genetics With careful experimental design, one can use statistical methods to correlate differences in the genotypes of populations with differences in their observed phenotype. These genetic association studies can be used to determine the genetic risk factors associated with a disease. They may even be able to differentiate between populations who may or may not respond favorably to a particular drug treatment. Such an approach is known as personalized medicine or pharmacogenetics. Genotype and mathematics Main articles: Genetic programming and evolutionary algorithm Inspired by the biological concept and usefulness of genotypes, computer science employs simulated phenotypes in genetic programming and evolutionary algorithms. Such techniques can help evolve mathematical solutions to certain types of otherwise difficult problems. Determining Genotype Main article: Genotyping Genotyping is the process of elucidating the genotype of an individual with a biological assay. Also known as a genotypic assay, techniques include PCR, DNA fragment analysis, ASO probes, sequencing, and nucleic acid hybridization to microarrays or beads. Several common genotyping techniques include Restriction Fragment Length Polymorphism RFLP, Terminal Restriction Fragment Length Polymorphism t-RFLP1, Amplified Fragment Length Polymorphisms AFLP2, and Multiplex Ligation-dependent Probe Amplification MLPA3. DNA fragment analysis can also be used to determine such disease causing genetics aberrations as Microsatellite Instability MSI4, Trisomy 5 or Aneuploidy, and Loss of Heterozygosity LOH6. MSI and LOH in particular have been associated with cancer cell genotypes for colon, breast, and cervical cancer. 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. References Look up genotype, phenotype, inheritance, genome in Wiktionary, the free dictionary. ^ wiktionary:genotype retrieved 2007-Apr-22 ^ Genotype definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms Retrieved from http://en..org/wiki/Genotype Categories: GeneticsHidden category: Articles needing additional references from July 2008 Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages БългарÑ?ки Català Česky Dansk Deutsch Eesti Español Français Galego í•œêµì–´ Italiano עברית Magyar Nederlands 日本語 Polski Português Română РуÑ?Ñ?кий SlovenÄ?ina SlovenÅ¡Ä?ina СрпÑ?ки / Srpski Suomi Svenska ไทย Тоҷикӣ Türkçe УкраїнÑ?ька ä¸æ–‡ This page was last modified on 7 August 2008, at 23:22
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