Gene polymorphism

Genes which control hair colour are polymorphic.

A gene is said to be polymorphic if more than one allele occupies that gene’s locus within a population.[1] A polymorphic variant of a gene may lead to the abnormal expression or to the production of an abnormal form of the gene; this may cause or be associated with disease. For example, a polymorphic variant of 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. This variant protein has reduced enzyme activity in metabolizing arachidonic acid to the blood pressure-regulating eicosanoid, 20-Hydroxyeicosatetraenoic acid; humans bearing this variant in one or both of their CYP4A11 genes have an increased incidence of hypertension, ischemic stroke, and coronary artery disease.[2]

Examples of polymorphic genes

References

  1. ↑ http://www.biology-online.org/dictionary/Genetic_polymorphism
  2. ↑ Cardiol Rev. 2014 Jan-Feb;22(1):1-12. doi: 10.1097/CRD.0b013e3182961659. Review
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