Genotype

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The genotype is the 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.[1] For instance, the human albino gene has two recessive alleles, recessive a and recessive a. It is generally accepted 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 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

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). The genetic constitution of an organism is referred to as its genotype.

Genotype and Mendelian inheritance

The distinction between genotype and phenotype is commonly experienced when studying family patterns for certain 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.

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.

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 hemophilia (another carrier) there would be a 75% chance of passing on the gene.

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