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Definition of Polymorphism

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Polymorphism: A variation in the DNA that is too common to be due merely to new mutation. A polymorphism must have a frequency of at least 1% in the population.

Examples of polymorphisms include the genes for sickle cell disease, thalassemia and G6PD deficiency. These genes are widely believed to offer an advantage against malaria.

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