Published online before print
June 12, 2003, 10.1101/gr.894603
Genome Res. 13:1607-1618, 2003
©2003 by Cold Spring Harbor Laboratory Press; ISSN 1088-9051/03 $5.00
Letter
Genetic Variation Among World Populations: Inferences From 100 Alu Insertion Polymorphisms
W. Scott Watkins1,
Alan R. Rogers2,
Christopher T. Ostler1,
Steve Wooding1,
Michael J. Bamshad1,3,
Anna-Marie E. Brassington1,
Marion L. Carroll4,
Son V. Nguyen5,
Jerilyn A. Walker5,
B.V. Ravi Prasad6,
P. Govinda Reddy7,
Pradipta K. Das8,
Mark A. Batzer5 and
Lynn B. Jorde1,9
1 Department of Human Genetics, University of Utah, Salt Lake City, Utah
84112, USA
2 Department of Anthropology, University of Utah, Salt Lake City, Utah
84112, USA
3 Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112,
USA
4 Department of Chemistry, Xavier University of Louisiana, New Orleans,
Louisiana 70125, USA
5 Department of Biological Sciences, Louisiana State University, Baton
Rouge, Louisiana 70803, USA
6 Department of Anthropology, Andhra University, Visakhapatnam, Andhra
Pradesh 530 003, India
7 Department of Anthropology, University of Madras, Chennai 600-005, Tamil
Nadu 600 005, India
8 Department of Anthropology, Utkal University, Bhubaneswar 751004,
India
We examine the distribution and structure of human genetic diversity for
710 individuals representing 31 populations from Africa, East Asia, Europe,
and India using 100 Alu insertion polymorphisms from all 22
autosomes. Alu diversity is highest in Africans (0.349) and lowest in
Europeans (0.297). Alu insertion frequency is lowest in Africans
(0.463) and higher in Indians (0.544), E. Asians (0.557), and Europeans
(0.559). Large genetic distances are observed among African populations and
between African and non-African populations. The root of a neighbor-joining
network is located closest to the African populations. These findings are
consistent with an African origin of modern humans and with a bottleneck
effect in the human populations that left Africa to colonize the rest of the
world. Genetic distances among all pairs of populations show a significant
product-moment correlation with geographic distances (r = 0.69,
P < 0.00001). FST, the proportion of genetic diversity
attributable to population subdivision is 0.141 for Africans/E.
Asians/Europeans, 0.047 for E. Asians/Indians/Europeans, and 0.090 for all 31
populations. Resampling analyses show that 50 Alu polymorphisms
are sufficient to obtain accurate and reliable genetic distance estimates.
These analyses also demonstrate that markers with higher FST values
have greater resolving power and produce more consistent genetic distance
estimates.
Article and publication are at
http://www.genome.org/cgi/doi/10.1101/gr.894603.
9 Corresponding author. E-MAIL
lbj{at}genetics.utah.edu;
FAX (801) 585-9148.
Article published online before print in June 2003.
[Supplemental material is available online at www.genome.org. The following
individuals kindly provided reagents, samples, or unpublished information as
indicated in the paper: J.M. Naiad, B.B. Rao, T. Jenkins, J. Kidd, K. Kidd,
and H. Soodyall.]

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