Genetic variation of recent Alu insertions in human populations

✍ Scribed by Mark A. Batzer; Santosh S. Arcot; Joshua W. Phinney; Michelle Alegria-Hartman; David H. Kass; Stephen M. Milligan; Colin Kimpton; Peter Gill; Manfred Hochmeister; Panayiotis A. Ioannou; Rene J. Herrera; Donald A. Boudreau; W. Douglas Scheer; Bronya J. B. Keats; Prescott L. Deininger; Mark Stoneking

• Publisher: Springer
• Year: 1996
• Tongue: English
• Weight: 819 KB
• Volume: 42
• Category: Article
• ISSN: 0022-2844
• DOI: 10.1007/bf00163207

✦ Synopsis

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 gehome 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 Eu-