Medical Definition of Duplication

  • 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.

Duplication: Part of a chromosome in duplicate, a particular kind of mutation (change) involving the production of one or more copies of any piece of DNA, including a gene or even an entire chromosome.

Duplications typically arise from an event termed unequal crossing-over (a kind of recombination) that occurs between misaligned homologous chromosomes during meiosis (germ cell formation). The chance of this event happening is a function of the degree of sharing of repetitive elements between two chromosomes. The recombination products of such an event are a duplication at the site of the exchange and a reciprocal deletion. A remarkable class of duplications in which the duplicated region has popped up far away from home base has also been discovered.

Duplications have been important in the evolution of the human genome (and the evolution of the genomes of many other organisms).

A duplication is the opposite of a deletion.

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Reviewed on 12/4/2018

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