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Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms.

Abstract：

:We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived state) is lowest in Africa (.42) but is higher and similar in India (.55), Europe (.56), and Asia (.57). A comparison with 30 restriction-site polymorphisms (RSPs) for which the ancestral state has been determined shows that the frequency of derived RSP alleles is also lower in Africa (.35) than it is in Asia (.45) and in Europe (.46). Neighbor-joining networks based on Alu insertions or RSPs are rooted in Africa and show African populations as separate from other populations, with high statistical support. Correlations between genetic distances based on Alu and nuclear RSPs, short tandem-repeat polymorphisms, and mtDNA, in the same individuals, are high and significant. For the 35 loci, Alu gene diversity and the diversity attributable to population subdivision is highest in Africa but is lower and similar in Europe and Asia. The distribution of ancestral alleles is consistent with an origin of early modern human populations in sub-Saharan Africa, the isolation and preservation of ancestral alleles within Africa, and an expansion out of Africa into Eurasia. This expansion is characterized by increasing frequencies of Alu inserts and by derived RSP alleles with reduced genetic diversity in non-African populations.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Watkins WS,Ricker CE,Bamshad MJ,Carroll ML,Nguyen SV,Batzer MA,Harpending HC,Rogers AR,Jorde LB

doi

10.1086/318793

subject

Has Abstract

pub_date

2001-03-01 00:00:00

pages

738-52

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63112-7

journal_volume

68

pub_type

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