Journal of Genetics and Molecular Biology

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Journal of Genetics and Molecular Biology 44 7897 074717

Gene-polymorphism

A gene is said to be polymorphic if more than one allele occupy that gene's locus within a population. In adding to having more than one allele at a specific locus, each allele have to also occur in the population at a pace of at least 1% to usually be considered polymorphic. A polymorphic alternate of a gene can lead to the abnormal expression or to the manufacture of an abnormal form of the protein; this aberration may cause or be associated with disease. For example, a polymorphic variant of the gene encoding the enzyme CYP4A11, in which thymidine replaces 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.

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