Journal of Biochemistry Research

Gene Polymorphism

  Gene polymorphisms can arise in any region of the genome. The seniority of polymorphisms are silent, meaning they do not change the function or expression of a gene. Some polymorphism is visible. For example, in dogs the E locus, can have any of five dissimilar alleles, known as E, Em, Eg, Eh, and  differ combinations of these alleles. A polymorphic variant of a gene can guide to the abnormal expression or to the production of an abnormal form of the protein; this abnormality may cause or be connected with disease. For example, a polymorphic variant of the gene encoding the enzyme CYP4A11, in which thymidine restores cytosine at the gene's nucleotide 8590 position encodes a CYP4A11 protein that substitutes phenylalanine with serine at the protein's amino acid position 434. This variant protein has lessen enzyme activity in metabolizing arachidonic acid to the blood pressure-regulating eicosanoid, 20-Hydroxyeicosatetraenoic acid.

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