Article
Superimposing polymorphism: the case of a point mutation within a polymorphic Alu insertion.
Human heredity - 1 Jan 2005
Martinez Laisel, Reategui Erika P, Fonseca Libia R, Sierra-Montes Julie M, Terreros Maria C, Pereira-Simon Simone, Herrera Rene J
Abstract excerpt
The COL3A1 Alu insertion is a member of the AluY subfamily. It has been found to be absent in non-human primates and polymorphic in worldwide human populations. The integration of the element into the human genome seems to have preceded the initial migration(s) of anatomically modern humans out of the African continent. Although the insertion has been detected in populations from all the continents, its highest...
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