Everything about Genotypical totally explained
The
genotype is the genetic constitution of a cell, an organism, or an individual, that's the specific
allele makeup of the individual, usually with reference to a specific character under consideration
. 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-
hereditary environmental variation contribute to the
phenotype of an individual.
Non-hereditary
DNA mutations are not classically understood as representing the individuals' genotype. Hence, scientists and doctors sometimes talk for example about the (geno)type of a particular
cancer, that's the genotype of the disease as distinct from the diseased.
). 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
hereditary 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 different(
heterozygous), 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
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
Genotyping is the process of ellucidating 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-RFLP)
(External Link
), Amplified Fragment Length Polymorphisms (
AFLP)
(External Link
), and Multiplex Ligation-dependent Probe Amplification (
MLPA)
(External Link
). DNA fragment analysis can also be used to determine such disease causing genetics aberrations as Microsatellite Instability (
MSI)
(External Link
),
Trisomy (External Link
) or
Aneuploidy, and Loss of Heterozygosity (
LOH)
(External Link
). 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.
Typical results for PCR genotyping can be found at [http://www.genetyper.com/ G
Further Information
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