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Genetic variation of recent Alu insertions in human populations.

作者信息

Batzer M A, Arcot S S, Phinney J W, Alegria-Hartman M, Kass D H, Milligan S M, Kimpton C, Gill P, Hochmeister M, Ioannou P A, Herrera R J, Boudreau D A, Scheer W D, Keats B J, Deininger P L, Stoneking M

机构信息

Human Genome Center, Lawrence Livermore National Laboratory, CA 94551, USA.

出版信息

J Mol Evol. 1996 Jan;42(1):22-9. doi: 10.1007/BF00163207.

DOI:10.1007/BF00163207
PMID:8576959
Abstract

The Alu family of interspersed repeats is comprised of over 500,000 members which may be divided into discrete subfamilies based upon mutations held in common between members. Distinct subfamilies of Alu sequences have amplified within the human genome in recent evolutionary history. Several individual Alu family members have amplified so recently in human evolution that they are variable as to presence and absence at specific loci within different human populations. Here, we report on the distribution of six polymorphic Alu insertions in a survey of 563 individuals from 14 human population groups across several continents. Our results indicate that these polymorphic Alu insertions probably have an African origin and that there is a much smaller amount of genetic variation between European populations than that found between other population groups.

摘要

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